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A case of successful management with splenectomy of intractable ascites due to congenital dyserythropoietic anemia type II-induced cirrhosis
The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morphological aberrations of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II is the most frequent type. All types of congenital dyserythropoietic anemias distinctly share a high incidence of iron loading. Iron accumulation occurs even in untransfused patients and can result in heart failure and liver cirrhosis. We have reported about a patient who presented with liver cirrhosis and intractable ascites caused by congenital dyserythropoietic anemia type II. Her clinical course was further complicated by the development of autoimmune hemolytic anemia. Splenectomy was eventually performed which achieved complete resolution of ascites, increase of hemoglobin concentration and abrogation of transfusion requirements.
Vassiliadis, Themistoklis; Garipidou, Vassilia; Perifanis, Vassilios; Tziomalos, Konstantinos; Giouleme, Olga; Patsiaoura, Kalliopi; Avramidis, Michalis; Nikolaidis, Nikolaos; Vakalopoulou, Sofia; Tsitouridis, Ioannis; Antoniadis, Antonios; Semertzidis, Panagiotis; Kioumi, Anna; Premetis, Evangelos; Eugenidis, Nikolaos
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I
The congenital dyserythropoietic anemias are a heterogeneous group of rare disorders primarily affecting erythropoiesis with characteristic morphological abnormalities and a block in erythroid maturation. Mutations in the CDAN1 gene, which encodes Codanin-1, underlie the majority of congenital dyserythropoietic anemia type I cases. However, no likely pathogenic CDAN1 mutation has been detected in approximately 20% of cases, suggesting the presence of at least one other locus. We used whole genome sequencing and segregation analysis to identify a homozygous T to A transversion (c.533T>A), predicted to lead to a p.L178Q missense substitution in C15ORF41, a gene of unknown function, in a consanguineous pedigree of Middle-Eastern origin. Sequencing C15ORF41 in other CDAN1 mutation-negative congenital dyserythropoietic anemia type I pedigrees identified a homozygous transition (c.281A>G), predicted to lead to a p.Y94C substitution, in two further pedigrees of SouthEast Asian origin. The haplotype surrounding the c.281A>G change suggests a founder effect for this mutation in Pakistan. Detailed sequence similarity searches indicate that C15ORF41 encodes a novel restriction endonuclease that is a member of the Holliday junction resolvase family of proteins.
Babbs, Christian; Roberts, Nigel A.; Sanchez-Pulido, Luis; McGowan, Simon J.; Ahmed, Momin R.; Brown, Jill M.; Sabry, Mohamed A.; Bentley, David R.; McVean, Gil A.; Donnelly, Peter; Gileadi, Opher; Ponting, Chris P.; Higgs, Douglas R.; Buckle, Veronica J.
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.
Congenital dyserythropoietic anemia type II is an autosomally recessive form of hereditary anemia caused by SEC23B gene mutations. Patients exhibit characteristic phenotypes including multinucleate erythroblasts, erythrocytes with hypoglycosylated membrane proteins and an apparent double plasma membrane. Despite ubiquitous expression of SEC23B, the effects of mutations in this gene are confined to the erythroid lineage and the basis of this erythroid specificity remains to be defined. In addition, little is known regarding the stage at which the disparate phenotypes of this disease manifest during erythropoiesis. We employ an in vitro culture system to monitor the appearance of the defining phenotypes associated with congenital dyserythropoietic anemia type II during terminal differentiation of erythroblasts derived from small volumes of patient peripheral blood. Membrane protein hypoglycosylation was detected by the basophilic stage, preceding the onset of multinuclearity in orthochromatic erythroblasts that occurs coincident with the loss of secretory pathway proteins including SEC23A during erythropoiesis. Endoplasmic reticulum remnants were observed in nascent reticulocytes of both diseased and healthy donor cultures but were lost upon further maturation of normal reticulocytes, implicating a defect of ER clearance during reticulocyte maturation in congenital dyserythropoietic anemia type II. We also demonstrate distinct isoform and species-specific expression profiles of SEC23 during terminal erythroid differentiation and identify a prolonged expression of SEC23A in murine erythropoiesis compared to humans. We propose that SEC23A is able to compensate for the absence of SEC23B in mouse erythroblasts, providing a basis for the absence of phenotype within the erythroid lineage of a recently described SEC23B knockout mouse. PMID:23935019
Satchwell, Timothy J; Pellegrin, Stephanie; Bianchi, Paola; Hawley, Bethan R; Gampel, Alexandra; Mordue, Kathryn E; Budnik, Annika; Fermo, Elisa; Barcellini, Wilma; Stephens, David J; van den Akker, Emile; Toye, Ashley M
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis
Congenital dyserythropoietic anemia type II is an autosomally recessive form of hereditary anemia caused by SEC23B gene mutations. Patients exhibit characteristic phenotypes including multinucleate erythroblasts, erythrocytes with hypoglycosylated membrane proteins and an apparent double plasma membrane. Despite ubiquitous expression of SEC23B, the effects of mutations in this gene are confined to the erythroid lineage and the basis of this erythroid specificity remains to be defined. In addition, little is known regarding the stage at which the disparate phenotypes of this disease manifest during erythropoiesis. We employ an in vitro culture system to monitor the appearance of the defining phenotypes associated with congenital dyserythropoietic anemia type II during terminal differentiation of erythroblasts derived from small volumes of patient peripheral blood. Membrane protein hypoglycosylation was detected by the basophilic stage, preceding the onset of multinuclearity in orthochromatic erythroblasts that occurs coincident with the loss of secretory pathway proteins including SEC23A during erythropoiesis. Endoplasmic reticulum remnants were observed in nascent reticulocytes of both diseased and healthy donor cultures but were lost upon further maturation of normal reticulocytes, implicating a defect of ER clearance during reticulocyte maturation in congenital dyserythropoietic anemia type II. We also demonstrate distinct isoform and species-specific expression profiles of SEC23 during terminal erythroid differentiation and identify a prolonged expression of SEC23A in murine erythropoiesis compared to humans. We propose that SEC23A is able to compensate for the absence of SEC23B in mouse erythroblasts, providing a basis for the absence of phenotype within the erythroid lineage of a recently described SEC23B knockout mouse.
Satchwell, Timothy J.; Pellegrin, Stephanie; Bianchi, Paola; Hawley, Bethan R.; Gampel, Alexandra; Mordue, Kathryn E.; Budnik, Annika; Fermo, Elisa; Barcellini, Wilma; Stephens, David J.; van den Akker, Emile; Toye, Ashley M.
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity.
Congenital dyserythropoietic anemia (CDA) type-1 is a rare genetic disorder of ineffective erythropoiesis, which manifests in macrocytic anemia. We report a CDA1 patient who as a newborn presented with macrocytic anemia and persistent pulmonary hypertension of the newborn (PPHN) requiring mechanical ventilation. Post-infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1. Patient is a compound heterozygote for a known maternal-derived missense-mutation (c.1796A?>?G/p.Asn589Ser) and a novel paternal-derived deletion-mutation (c.1104_1106del/Phe365del) in CDAN1. This report highlights the importance of recognizing PPHN as a presenting symptom of CDA1 and expands the repertoire of the accompanying mutations and axial skeletal malformations. Pediatr Blood Cancer 2014; 61:1460-1462. � 2014 Wiley Periodicals, Inc. PMID:24420417
El-Sheikh, Ayman A; Hashem, Hasan; Holman, Carol; Vyas, Yatin M
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.
Congenital dyserythropoietic anemia type 1 (CDA-1), a rare inborn anemia characterized by abnormal chromatin ultrastructure in erythroblasts, is caused by abnormalities in codanin-1, a highly conserved protein of unknown function. We have produced 3 monoclonal antibodies to codanin-1 that demonstrate its distribution in both nucleus and cytoplasm by immunofluorescence and allow quantitative measurements of patient and normal material by Western blot. A detailed analysis of chromatin structure in CDA-1 erythroblasts shows no abnormalities in overall histone composition, and the genome-wide epigenetic landscape of several histone modifications is maintained. However, immunofluorescence analysis of intermediate erythroblasts from patients with CDA-1 reveals abnormal accumulation of HP1? in the Golgi apparatus. A link between mutant codanin-1 and the aberrant localization of HP1? is supported by the finding that codanin-1 can be coimmunoprecipitated by anti-HP1? antibodies. Furthermore, we show colocalization of codanin-1 with Sec23B, the protein defective in CDA-2 suggesting that the CDAs might be linked at the molecular level. Mice containing a gene-trapped Cdan1 locus demonstrate its widespread expression during development. Cdan1(gt/gt) homozygotes die in utero before the onset of primitive erythropoiesis, suggesting that Cdan1 has other critical roles during embryogenesis. PMID:21364188
Renella, Raffaele; Roberts, Nigel A; Brown, Jill M; De Gobbi, Marco; Bird, Louise E; Hassanali, Tasneem; Sharpe, Jacqueline A; Sloane-Stanley, Jacqueline; Ferguson, David J P; Cordell, Jacqueline; Buckle, Veronica J; Higgs, Douglas R; Wood, William G
Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated
Background Congenital dyserythropoietic anemia type I is an inherited autosomal recessive macrocytic anemia associated with ineffective erythropoiesis and the development of secondary hemochromatosis. Distinct erythroid precursors with internuclear chromatin bridges and spongy heterochromatin are pathognomonic for the disease. The mutated gene (CDAN1) encodes a ubiquitously expressed protein of unknown function, codanin-1. Based on the morphological features of congenital dyserythropoietic anemia type I erythroblasts and data on a role in cell cycle progression of codanin-1 homolog in Drosophila we investigated the cellular localization and possible involvement of codanin-1 during the cell cycle. Design and Methods Codanin-1 localization was studied by immunofluorescence and immune electron microscopy. Cell cycle expression of codanin-1 was evaluated using synchronized HeLa cells. E2F proteins are the main regulator of G1/S transition. An E2F1-inducible cell line (U20S-ER-E2F1) enabled us to study codanin-1 expression following ectopic E2F1 induction. Direct binding of E2F1 to codanin-1 promoter was assessed by chromatin immunoprecipitation. We used a luciferase-reporter plasmid to study activation of CDAN1 transcription by E2F1. Results We localized codanin-1 to heterochromatin in interphase cells. During the cell cycle, high levels of codanin-1 were observed in the S phase. At mitosis, codanin-1 underwent phosphorylation, which coincided with its exclusion from condensed chromosomes. The proximal CDAN1 gene promoter region, containing five putative E2F binding sites, was found to be a direct target of E2F1. Conclusions Taken together, these data suggest that codanin-1 is a cell cycle-regulated protein active in the S phase. The exact role of codanin-1 during the S phase remains to be determined. Nevertheless this represents the first step towards understanding the function of the proteins involved in congenital dyserythropoietic anemia.
Noy-Lotan, Sharon; Dgany, Orly; Lahmi, Roxane; Marcoux, Nathaly; Krasnov, Tanya; Yissachar, Nissan; Ginsberg, Doron; Motro, Benny; Resnitzky, Peretz; Yaniv, Isaac; Kupfer, Gary M.; Tamary, Hannah
Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis
The congenital dyserythropoietic anemias (CDAs) comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by distinct morphological abnormalities of the majority of erythroblasts in the bone marrow. The classification in three types as proposed in 1968 is still valid, but there is genetic heterogeneity within each type, and there
Hermann Heimpel
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.
CDA are a group of inherited, rare diseases that are characterized by dyserythropoiesis and ineffective erythropoiesis associated with transfusion dependency in approximately 10% of cases. For these latter patients, the only curative treatment is HSCT. There are very limited data on HSCT experience in this rare disease. Herein, we report a five-yr six-month-old girl with compound heterozygous mutations in SEC23B gene, who was diagnosed to have CDA type II and underwent successful HSCT from her matched sibling donor. PMID:24724984
Unal, Sule; Russo, Roberta; Gumruk, Fatma; Kuskonmaz, Baris; Cetin, Mualla; Sayli, Tulin; Tavil, Betul; Langella, Concetta; Iolascon, Achille; Uckan Cetinkaya, Duygu
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding. alpha. -mannosidase II
Congenital dyserythropoietic anemia type II, or hereditary erythroblastic multinuclearity with a positive acidified-serum-lysis test (HEMPAS), is a genetic anemia in humans inherited by an autosomally recessive mode. The enzyme defect in most HEMPAS patients has previously been proposed as a lowered activity of N-acetylglucosaminyltransferase II, resulting in a lack of polylactosamine on proteins and leading to the accumulation of polylactosaminyl lipids. A recent HEMPAS case, G.C., has now been analyzed by cell-surface labeling, fast-atom-bombardment mass spectrometry of glycopeptides, and activity assay of glycosylation enzymes. Significantly decreased glycosylation of polylactosaminoglycan proteins and incompletely processed asparagine-linked oligosaccharides were detected in the erythrocyte membranes of G.C. These results suggest that G.C. cells contain a mutation in {alpha}-ManII-encoding gene that results in inefficient expression of {alpha}-ManII mRNA, either through reduced transcription or message instability. This report demonstrates that HEMPAS is caused by a defective gene encoding an enzyme necessary for the synthesis of asparagine-linked oligosaccharides.
Fukuda, M.N.; Masri, K.A. (La Jolla Cancer Research Foundation, CA (USA)); Dell, A. (Imperial College of Science Technology and Medicine, London (England)); Luzzatto, L. (Hammersmith Hospital, London (England)); Moremen, K.W. (Massachusetts Institute of Technology, Cambridge, MA (USA))
Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3.
Congenital dyserythropoietic anemias (CDA) are a rare group of red-blood-cell disorders of unknown etiology that are characterized by ineffective erythropoiesis, pathognomonic cytopathology of the nucleated red blood cells in the bone marrow, and secondary hemochromatosis. In CDA type I, bone-marrow electron microscopy reveals characteristic findings in erythroid precursors, including spongy heterochromatin and enlarged nuclear pores. Since the genetic basis of CDA type I is not evident, we used homozygosity and linkage mapping to localize the genetic defect responsible for CDA type I in 25 Bedouins from four large consanguineous families. We report the linkage of this disease to markers on chromosome 15 located at q15. 1-q15.3. Fourteen markers within a 12-cM interval were typed in the relevant family members. Nine of the markers yielded maximum LOD scores of 1.625-12.928 at a recombination fraction of .00. Linkage disequilibrium was found only with marker D15S779. Haplotype analysis revealed eight different carrier haplotypes and highlighted the existence of a founder haplotype. Identification of historical crossover events further narrowed the gene location to between D15S779 and D15S778. The data suggest localization of the CDA type I gene within a 0.5-cM interval. The founder mutation probably occurred >/= 400 years ago. Sequence analysis of the coding region of protein 4.2, the only known erythroid-specific gene in the locus, did not reveal any change in the CDA type I patients. Future analysis of this locus may lead to the identification of a gene essential to normal erythropoiesis.
Tamary, H; Shalmon, L; Shalev, H; Halil, A; Dobrushin, D; Ashkenazi, N; Zoldan, M; Resnitzky, P; Korostishevsky, M; Bonne-Tamir, B; Zaizov, R
Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II.
Congenital dyserythropoietic anemia type II or hereditary erythroblastic multinuclearity with positive acidified serum test (HEMPAS) is a genetic disease caused by membrane abnormality. Previously we have found that Band 3 and Band 4.5 are not glycosylated by lactosaminoglycans in HEMPAS erythrocytes, whereas normally these proteins have lactosaminoglycans (Fukuda, M. N., Papayannopoulou, T., Gordon-Smith, E. C., Rochant, H., and Testa, U. (1984) Br. J. Haematol. 56, 55-68). In order to find out where glycosylation of lactosaminoglycans stops, we have analyzed the carbohydrate structures of HEMPAS Band 3. By fast atom bombardment-mass spectrometry, methylation analysis, and hydrazinolysis followed by exoglycosidase treatments, the following structure was elucidated: (formula; see text) N-Linked glycopeptides synthesized in vitro by reticulocyte microsomes from HEMPAS were shown to be predominantly the above short oligosaccharide, whereas those from normal reticulocytes contain large molecular weight carbohydrates. The N-acetylglucosaminyltransferase II, which transfers N-acetylglucosamine to the C-2 position of the Man alpha 1----6Man beta 1----arm of the biantennary core structure, was therefore examined by using Man alpha 1----6(GlcNAc beta 1----2Man alpha 1----3)Man beta 1----4GlcNAc beta 1----4GlcNAcol as an acceptor. N-Acetylglucosaminyltransferase II activity was demonstrated in the lymphocyte microsome fraction from normal individuals. However, this enzyme activity was found to be decreased in those from HEMPAS patients. These results suggest that the primary defect of HEMPAS lies in the lowered activity of N-acetylglucosaminyltransferase II. PMID:2953718
Fukuda, M N; Dell, A; Scartezzini, P
Congenital dyserythropoietic anemia in China: a case report from two families and a review.
Congenital dyserythropoietic anemias (CDAs) are a group of hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of erythroblasts in the bone marrow. Most cases of CDA, caused by a wide spectrum of mutations, have been reported from Europe and Mediterranean countries, while a few cases have been described in China. Here, we present three cases of CDA, one from one family and two from a second unrelated family, with typical morphologic features and clinical presentations. Sequence analysis of CDA-related genes revealed that the proband with CDA ? in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ?? in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H). This study suggests that more patients with CDA, sharing a phenotype and genetic background like those of European and Mediterranean origin, remain to be diagnosed and reported in China. PMID:24196372
Ru, Yongxin; Liu, Gang; Bai, Jie; Dong, Shuxu; Nie, Neng; Zhang, Huamei; Zhao, Shixuan; Zheng, Yizhou; Zhu, Xiaofan; Nie, Guangjun; Zhang, Fengkui; Eyden, Brian
A variant of the congenital dyserythropoietic anaemia type II with structural abnormalities in the granulocytic series
Typical features of congenital dyserythropoietic anaemia (CDA) were found in a 13-year-old girl admitted for chronic recurrent multifocal osteomyelitis. The findings on light microscopy were in agreement with those described in CDA type II, whereas on electron microscopy, the ultrastructure findings were compatible with both types I and II. The acidified serum lysis test (Ham test) performed with eight normal
C. Vermylen; J. M. Scheiff; J. Rodhain; J. Ninane; G. Cornu
Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II)
Type II congenital dyserythropoietic anaemia (CDA-II or HEMPAS) is an autosomal recessive disorder, representing the most frequent form of congenital dyserythropoiesis. It is characterised by normocytic anaemia, variable jaundice and hepato-splenomegaly. Gallbladder disease and secondary haemochromatosis are frequent complications. We report a case characterised by severe transfusion-dependent anaemia. The proband inherited CDA-II in association with beta-thalassaemia trait. Splenectomy did not
A Iolascon; V Sabato; D de Mattia; F Locatelli
A variant of the congenital dyserythropoietic anaemia type II with structural abnormalities in the granulocytic series.
Typical features of congenital dyserythropoietic anaemia (CDA) were found in a 13-year-old girl admitted for chronic recurrent multifocal osteomyelitis. The findings on light microscopy were in agreement with those described in CDA type II, whereas on electron microscopy, the ultrastructure findings were compatible with both types I and II. The acidified serum lysis test (Ham test) performed with eight normal sera was negative. The patient's red blood cells showed an increased agglutinability with anti-i antibodies. Morphological changes were also shown in the mature neutrophilic granulocyte suggesting that the primary disorder exists already in the multipotent stem cell. PMID:3769984
Vermylen, C; Scheiff, J M; Rodhain, J; Ninane, J; Cornu, G
Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia.
Channel-forming integral protein (CHIP) is the archetypal member of the Aquaporin family of water channels. Delayed CHIP expression was shown recently in perinatal rat (Smith, B. L., R. Baumgarten, S. Nielsen, D. Raben, M. L. Zeidel, and P. Agre. 1993. J. Clin. Invest. 92:2035-2041); here we delineate the human patterns. Compared with adult, second and third trimester human fetal red cells had lower CHIP/spectrin ratios (0.72 +/- 0.12, 0.94 +/- 0.22 vs 1.18 +/- 0.11) and reduced osmotic water permeability (0.029, 0.026 vs 0.037 cm/s); CHIP was already present in human renal tubules by the second trimester. A patient with a novel form of congenital dyserythropoietic anemia (CDA) with persistent embryonic and fetal globins and absent red cell CD44 protein was studied because of reduced CHIP-associated Colton antigens. Novel CDA red cells contained < 10% of the normal level of CHIP and had remarkably low osmotic water permeability (< 0.01 cm/s), but no mutation was identified in Aquaporin-1, the gene encoding CHIP. These studies demonstrate: (a) unlike rat, human CHIP expression occurs early in fetal development; (b) red cell water channels are greatly reduced in a rare phenotype; and (c) disrupted expression of red cell CHIP and CD44 suggests an approach to the molecular defect in a novel form of CDA. Images
Agre, P; Smith, B L; Baumgarten, R; Preston, G M; Pressman, E; Wilson, P; Illum, N; Anstee, D J; Lande, M B; Zeidel, M L
Genetics Home Reference: Dyserythropoietic anemia and thrombocytopenia
... proliferation) of immature red blood cells and platelet-precursor cells (megakaryocytes) and helps with their differentiation. GATA1 ... inheritance ; inherited ; injury ; iron ; mutation ; neutropenia ; oxygen ; platelets ; precursor ; prevalence ; proliferation ; protein ; red blood cell ; sex chromosomes ; ...
Genetics Home Reference: Congenital dyserythropoietic anemia
... can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), ... relatives with the condition. Where can I find information about diagnosis or management of CDA? These resources ...
[Pernicious anemia in an adolescent with type 1 diabetes mellitus].
The most frequent organ-specific autoimmune diseases associated with type 1 diabetes mellitus in children are hypothyroidism and celiac disease. Among adults, other associations exist, notably with pernicious anemia, which is extremely rare in children. We relate the observation of an adolescent with type 1 diabetes mellitus and hypothyroidism, admitted for severe anemia in addition to chronic anemia caused by autoimmune gastritis. Blood cell count showed severe aregenerative anemia with pancytopenia, with signs of non-autoimmune hemolysis. Vitamin B12 levels were low, bone marrow aspiration revealed erythroid hyperplasia, and anti-intrinsic factor antibodies were positive, providing the diagnosis of pernicious anemia. Treatment with intramuscular vitamin B12 produced brisk reticulosis after 6 days, with a subsequent rapid resolution of the anemia. Follow-up of type 1 diabetes mellitus in children requires screening for organ-specific autoimmune diseases; in case of unexplained anemia, autoimmune gastritis must be suggested. It can evolve into pernicious anemia. PMID:19211232
Carneiro, M; Dumont, C
Macrocytic achylic anemia; Congenital pernicious anemia; Juvenile pernicious anemia; Vitamin B12 deficiency (malabsorption) ... Pernicious anemia is a type of vitamin B12 anemia. The body needs vitamin B12 to make red blood cells. ...
Anemias continue to present a challenge to the health care profession. Anemia is defined as a reduction in one or more of the RBC indices. Patients presenting with a mild form of anemia may be asymptomatic; however, in more serious cases the anemia can become life threatening. In many cases the clinical presentation also reflects the underlying cause. Anemia may be attributed to various causes, whereas autoimmune RBC destruction may be attributed to intrinsic and extrinsic factors. Laboratory tests are essential in facilitating early detection and differentiation of anemia. PMID:24267278
Broadway-Duren, Jacqueline B; Klaassen, Hillary
\\u000a Anemia is defined as a reduction in the red cell mass due to decreased production, increased loss\\/ decreased survival, or\\u000a increased destruction of red blood cells (RBCs). As most of the oxygen is transported by the RBCs to the body tissues, a reduction\\u000a in the red cell mass causes reduced oxygen supply to the body cells. Consequently, anemia is a
Rosalind Bryant
Expression of the iron hormone hepcidin distinguishes different types of anemia in African children.
Childhood anemia is a major global health problem resulting from multiple causes. Iron supplementation addresses iron deficiency anemia but is undesirable for other types of anemia and may exacerbate infections. The peptide hormone hepcidin governs iron absorption; hepcidin transcription is mediated by iron, inflammation, and erythropoietic signals. However, the behavior of hepcidin in populations where anemia is prevalent is not well established. We show that hepcidin measurements in 1313 African children from The Gambia and Tanzania (samples taken in 2001 and 2008, respectively) could be used to identify iron deficiency anemia. A retrospective secondary analysis of published data from 25 Gambian children with either postmalarial or nonmalarial anemia demonstrated that hepcidin measurements identified individuals who incorporated >20% oral iron into their erythrocytes. Modeling showed that this sensitivity of hepcidin expression at the population level could potentially enable simple groupings of individuals with anemia into iron-responsive and non-iron-responsive subtypes and hence could guide iron supplementation for those who would most benefit. PMID:24807559
Pasricha, Sant-Rayn; Atkinson, Sarah H; Armitage, Andrew E; Khandwala, Shivani; Veenemans, Jacobien; Cox, Sharon E; Eddowes, Lucy A; Hayes, Theodore; Doherty, Conor P; Demir, Ayse Y; Tijhaar, Edwin; Verhoef, Hans; Prentice, Andrew M; Drakesmith, Hal
Pernicious anemia in a patient with Type 1 diabetes mellitus and alopecia areata universalis
A 27-year-old male, who had developed diabetes mellitus type 1 (DMT1) since the age of eighteen and alopecia areata universalis nine months later, attended the outpatient clinics complaining of general fatigue and shortness of breath. A Schilling test was indicative of pernicious anemia. Antigastric parietal cell (AGPA) and anti-intrinsic factor antibodies were positive, confirming diagnosis of pernicious anemia. Thyroid and
Thrasivoulos G. Tzellos; Dimitrios K. Tahmatzidis; Aimilios Lallas; Kiriaki Apostolidou; Dimitrios G. Goulis
Inborn Anemias in Mice: (Annual Report, 1981-1982).
National Technical Information Service (NTIS)
Hereditary anemias of mice are the chief objects of investigation, specificially four macrocytic anemias, 3 types of hemolytic anemia, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, the autoimmune hemolyti...
S. E. Bernstein
Pernicious anemia in a patient with Type 1 diabetes mellitus and alopecia areata universalis.
A 27-year-old male, who had developed diabetes mellitus type 1 (DMT1) since the age of eighteen and alopecia areata universalis nine months later, attended the outpatient clinics complaining of general fatigue and shortness of breath. A Schilling test was indicative of pernicious anemia. Antigastric parietal cell (AGPA) and anti-intrinsic factor antibodies were positive, confirming diagnosis of pernicious anemia. Thyroid and Addison's disease were excluded. Gastroscopy revealed atrophic gastritis without any evidence of carcinoid tumors. The aim of this case, which, to our knowledge, is the first one to describe a correlation between diabetes mellitus Type 1 (DMT1), pernicious anaemia, and alopecia areata universalis, is to remind the clinician of the increased risk of pernicious anaemia and gastric carcinoids in DMT1 patients. Screening for AGPA followed by serum gastrin and vitamin B(12) levels constitute the most evidence-based diagnostic approach. PMID:18614380
Tzellos, Thrasivoulos G; Tahmatzidis, Dimitrios K; Lallas, Aimilios; Apostolidou, Kiriaki; Goulis, Dimitrios G
Type 1 diabetes mellitus in a patient with homozygous sickle cell anemia.
In children with sickle cell disease, reports of type 1 diabetes mellitus (T1D) are extremely rare. Several studies failed to show the co-existence of the two conditions. In the few cases reported, the diagnosis has been made solely based on the clinical presentation. Here we report the case of an adolescent with sickle cell anemia who presented with hyperglycemia and positive T1D-specific auto-antibodies. PMID:23813357
Shoar, Zohreh; Rezvani, Geoffrey; De Luca, Francesco
[Successful treatment with rituximab in a patient with refractory mixed-type autoimmune hemolytic anemia].
The evidence that rituximab is effective therapy for refractory warm or cold autoimmune hemolytic anemia (AIHA) has been accumulating; however, the efficacy of rituximab for mixed-type AIHA is not evident. Herein, we report a case of mixed-type AIHA refractory to corticosteroids and splenectomy, but successfully treated with rituximab (375 mg/m(2)/day, once weekly, four times). She achieved a complete response, which has been maintained for 16 months, to date, despite steroid tapering. Our case suggests that rituximab therapy should be considered for refractory AIHA even of mixed-type. PMID:24305538
Ono, Kaoru; Sato, Tsutomu; Iyama, Satoshi; Tatekoshi, Ayumi; Hashimoto, Akari; Kamihara, Yusuke; Horiguchi, Hiroto; Kikuchi, Shohei; Takada, Kohichi; Hayashi, Tsuyoshi; Miyanishi, Koji; Sato, Yasushi; Takimoto, Rishu; Kobune, Masayoshi; Kato, Junji
... acid in your diet Hemolytic anemia Long-term alcoholism Use of certain medications (such as phenytoin [Dilantin], ... raise your risk for this type of anemia: Alcoholism Eating overcooked food Poor diet (often seen in ...
... from the NHLBI on Twitter. What Is Aplastic Anemia? Aplastic anemia (a-PLAS-tik uh-NEE-me-uh) is ... heart, heart failure , infections, and bleeding. Severe aplastic anemia can even cause death. Overview Aplastic anemia is ...
... from the NHLBI on Twitter. What Is Pernicious Anemia? Pernicious anemia (per-NISH-us uh-NEE-me-uh) is ... nervous system working properly. People who have pernicious anemia can't absorb enough vitamin B12 from food. ...
... from the NHLBI on Twitter. What Is Hemolytic Anemia? Hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh) ... blood cells to replace them. However, in hemolytic anemia, the bone marrow can't make red blood ...
[Discrete type subaortic stenosis disclosed by hemolytic anemia after aortic and mitral valve replacement].
We report a case of discrete type subaortic stenosis disclosed by hemolytic anemia 7 years after aortic and mitral prosthetic valve replacement. A 53-year-old female complained of general fatigue, dyspnea, macrohematuria and hemolysis. She had undergone aortic valve replacement for non-coronary cusp perforation 15 years before, and mitral valve replacement and tricuspid annuloplasty 7 years before. Echocardiography showed mitral prosthetic valve regurgitation (III/IV degree) and symptomatic hemolysis might be caused by accelerated blood flow through the prosthetic valve. A mild aortic stenosis (peak flow verocity:3.73 m/s) was alsopointed out. The redo double valve replacement was performed. Intraoperative findings showed discrete type subaortic stenosis due to extensive pannus formation, but that the previously implanted prosthetic valves were intact. The blood flow biased by the interference of the subaortic stenosis might have obstructed closure of the mitral prosthetic valve and caused mitral regurgitation. Postoperatively, hemolysis and mitral regurgitation were diminished, and aortic stenosis was improved. PMID:24743533
Kawahara, Yu; Inage, Yuichi; Masaki, Naoki; Kobayashi, Yuriko; Jinbu, Ryota; Toyama, Shuji; Fukasawa, Manabu
A LTHOUGH patients with hemolytic anemia are not numerous, they continue to be a problem of special interest and great difficulty. In the majority of cases the disease is of the familial or congenital type. The commonly accepted criteria for the diagnosis of congenital hemolytic anemia include the presence of a microsphero- cytic blood picture with an increase in signs
Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make ... cause is unknown. Your doctor will diagnose aplastic anemia based on your medical and family histories, a ...
Prevalence of anemia in patients with type II diabetes and mild to moderate chronic kidney disease and the impact of anti-RAS medications.
Anemia is a common feature of diabetes and chronic kidney disease (CKD) mainly due to erythropoietin (EPO) deficiency and uremic toxicity. Angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) have been established as first-choice medications for the treatment of diabetic nephropathy. However, there are conflicting data regarding their impact on hemoglobin levels in patients with diabetic nephropathy. We evaluated the prevalence of anemia in 101 patients with diabetes mellitus type II and CKD at stage III-IV (group A) compared with 101 non-diabetic patients with similar renal function (group B). Moreover, we evaluated the impact of ACE inhibitors and ARBs on patients' anemia. Anemia was observed in 60 patients in group A and in 47 patients in group B (P < 0.01). Thirty-one (31) patients in group A and 19 patients in group B were receiving exogenous EPO for correction of renal anemia (P <0.05). Mean values of hemoglobin did not show significant differences (12.5 � 1.8 vs 12.6 � 1.7 g/dL) between the two groups. Seventy-five patients in group A and 52 patients in group B were receiving ACE inhibitors and/or ARBs (P <0.01), but, after multivariate analysis, we could not detect any association between anemia and the prescription of these medications. Anemia is more common in diabetic patients with CKD stage III-IV than in non-diabetic patients with similar renal function. Our results indicate that ACE inhibitors and ARBs are not a significant cause of anemia for both populations. PMID:24821151
Dousdampanis, Periklis; Trigka, Konstantina; Fourtounas, Costas
Coefficient of variation of R-R intervals in electrocardiogram is a sensitive marker of anemia induced by autonomic neuropathy in type 1 diabetes.
The present study investigated the relationship between hemoglobin (Hb) levels and autonomic failure using a sensitive marker, coefficient of variation of R-R intervals in electrocardiogram (CVR-R) in order to clarify a cause of normocytic normochromic anemia in type 1 diabetic patients without overt nephropathy. We recruited 46 patients with type 1 diabetes and measured creatinine clearance (Ccr), HbA1c, albuminuria, Hb levels and CVR-R of all patients. In addition, the status of diabetic retinopathy and neuropathy were also evaluated. Serum erythropoietin (EPO), Fe, total iron binding capacity, lactate dehydrogenase, total bilirubin levels and number of reticulocytes and mean corpuscular volume were also measured to distinguish types of anemia. To survey the statistical correlation existing between Hb and body mass index (BMI), Ccr, HbA1c, albuminuria or retinopathy, multiple regression analysis was performed. Serum EPO, Fe, TIBC, LDH and TB levels and number of reticulocytes and MCV were within normal limits. Multiple regression analysis disclosed that HbA1c, nephropathy evaluated by albuminuria and Ccr, and retinopathy has no concern with Hb level. There is only significant relationship between Hb levels and CVR-R. Similar results were obtained even if we analyzed a group of male and female separately. We conclude that CVR-R has the strong relationship on anemia without overt nephropathy in type 1 diabetes, indicating that autonomic failure contributes on the progression of anemia via a poor response of EPO to anemia. PMID:17481773
Saito, Takatoshi; Tojo, Katsuyoshi; Nishimura, Rimei; Kageyama, Shigeru; Tajima, Naoko
Anemia is a significant cause of morbidity and mortality in patients with chronic kidney disease and end-stage renal disease.\\u000a The anemia in this setting results primarily from inadequate erythrocyte production by the bone marrow due to a deficiency\\u000a of erythropoietin. Other factors may contribute to the development of anemia, including most notably iron deficiency, inflammation,\\u000a and malnutrition. Treatment options, including
Arthur Tsai; Jeffrey S. Berns
Anemia And Fatigue Anemia And Fatigue htmAnemiaAndFatigue Left untreated, anemia can lead to a lack of energy and, more seriously, strokes, heart attacks ... 12 t InteliHealth Medical Content 2014-12-08 Anemia And Fatigue What Is Anemia? Anemia means that ...
... other cancers, usually leukemia or cancers of the head, neck, or urinary system. Medicines called growth factors (such ... including leukemia, myelodysplastic syndrome, and cancer of the head, neck, or urinary system. Women with Fanconi's anemia who ...
Coefficient of variation of R�R intervals in electrocardiogram is a sensitive marker of anemia induced by autonomic neuropathy in type 1 diabetes
The present study investigated the relationship between hemoglobin (Hb) levels and autonomic failure using a sensitive marker, coefficient of variation of R�R intervals in electrocardiogram (CVR-R) in order to clarify a cause of normocytic normochromic anemia in type 1 diabetic patients without overt nephropathy. We recruited 46 patients with type 1 diabetes and measured creatinine clearance (Ccr), HbA1c, albuminuria, Hb
Takatoshi Saito; Katsuyoshi Tojo; Rimei Nishimura; Shigeru Kageyama; Naoko Tajima
Effect of Erythropoietin on Urinary Liver-Type Fatty-Acid-Binding Protein in Patients with Chronic Renal Failure and Anemia
Background\\/Aim: The urinary liver-type fatty-acid-binding protein (L-FABP) level reflects the clinical progression of chronic kidney disease. We conducted a study to determine whether administration of erythropoietin (EPO), which is produced in response to hypoxic stress, affects urinary protein excretion and L-FABP levels in patients with chronic renal failure (CRF) and anemia. Methods: The study was an interventional trial that included
Tsukasa Nakamura; Takeshi Sugaya; Yasuhiro Kawagoe; Tsukasa Suzuki; Yoshihiko Ueda; Hikaru Koide
Reticulocytopenia in severe autoimmune hemolytic anemia (AIHA) of the warm antibody type
A patient with severe AIHA of the warm antibody type, absence of reticulocytes and red cell hyperplasia of the bone marrow is described. In order to maintain a reasonable hemoglobin level 38 units of washed packed red cells were required within 24 days. The treatment with high doses of steroids showed no permanent beneficial effect. After splenectomy the red cell
G. Hauke; A. A. Fauser; S. Weber; D. Maas
Inborn anemias in mice: (Annual report, 1981-1982)
Hereditary anemias of mice are the chief objects of investigation, specificially four macrocytic anemias, 3 types of hemolytic anemia, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, the autoimmune hemolytic anemia of NZB mice, an ..cap alpha..-thalassemia and a new hypochromic anemia with hemochromatosis. New types of anemia may be analyzed as new mutations appear. Three new mutations have been identified during the past 18 months. These anemias are studied through characterization of peripheral blood values, determinations of radiosensitivity under a variety of conditions, measurements of iron metabolism and heme synthesis, study of normal and abnormal erythrocyte membrane proteins, histological and biochemical characterization of blood-forming tissue, functional tests of the stem-cell component, examination of responses to erythroid stimuli, and transplantation of tissue and parabiosis between individuals of differently affected genotypes. 31 refs.
Bernstein, S.E.
Summary��Six types of autoimmune hemolytic anemias have been described. Table 1 provides summary highlights for each type of AIHA.\\u000a WAIHA accounts for the majority of cases, followed by CAIHA and DIAHA. In recent years, AIHA status post-BMT has been noted\\u000a to occur more often than previously reported, particularly in T-cell-depleted graft recipients. The clinical presentation\\u000a is diverse among the various
Claire Hashimoto
Sickle cell anemia - resources
Resources - sickle cell anemia ... The following organizations are good resources for information on sickle cell anemia : American Sickle Cell Anemia Association - www.ascaa.org/ National Heart, Blood, and Lung Institute - www. ...
... Email this page Print this page Severe aplastic anemia (SAA) Severe aplastic anemia (SAA) is a disease in which the bone ... make enough blood cells for the body. Aplastic anemia is rare and occurs more frequently in eastern ...
... ve had an illness or condition that could cause anemia. Let your doctor know about any medicines you ... blood cells and a clue as to the cause of your anemia. In iron-deficiency anemia , for example, red blood ...
... not have the disease itself. What Is Sickle Cell Anemia? Sickle cell anemia is a blood disorder ... blood vessels. Continue What Happens With Sickle-Shaped Cells Sickle cell anemia occurs because an abnormal form ...
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... Research 4 Home � Health Information for the Public � Health Topics � Iron-Deficiency Anemia � What Is ... Iron-Deficiency Anemia Explore Iron-Deficiency Anemia What Is ... Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical ...
... can lead to problems with the hemoglobin, cell membrane, or enzymes that maintain healthy red blood cells. ... In this condition, a defect in the surface membrane (the outer covering) of red blood cells causes ...
What Are the Signs and Symptoms of Fanconi Anemia?
... What Are the Signs and Symptoms of Fanconi Anemia? Major Signs and Symptoms Your doctor may suspect ... sisters also should be tested for the disorder. Anemia The most common symptom of all types of ...
Anemia in pregnancy is a global health problem affecting nearly half of all pregnant women worldwide. High fetal demands for iron render iron deficiency the most common cause of anemia of pregnancy, with other micronutrient deficiencies contributing less frequently. In certain geographical populations, human pathogens such as hookworm, malarial parasite and human immunodeficiency virus are important factors in anemia of pregnancy. The hemoglobinopathies, sickle cell disease and thalassemia, represent diverse causes of anemia of pregnancy, requiring specialized care. Aplastic anemia is a rare, morbid cause of anemia of pregnancy and is managed with transfusions until the completion of pregnancy. PMID:21444028
Lee, Alfred Ian; Okam, Maureen M
"VA", a new type of erythrocyte polyagglutination characterized by depressed H receptors and associated with hemolytic anemia. I. Serological and hematological observations.
This report describes a case of persistent polyagglutinability restriced to the red blood cells, and associated with hemolytic anemia in a 20-year-old male. AIME WITH NORMAL INTERVALS. His red blood cells were weakly agglutinated by almost all adult sera. No autoagglutination was noted and the direct antihuman globulin test was negative. Polyagglutinability of his red blood cells was clearly distinguishable from T, Tn and Tk. No reaction was noted with Dolichos biflorus and peanut extracts. The cells differed from normal erythrocytes in their positive reactions with various snail agglutinins and their weak reaction with a range of anti-H reagents. There was normal aggregation by Polybrene. MN determinants were normally expressed. The symbol "VA" is roposed for this type of polyagglutination. PMID:857420
Graninger, W; Rameis, H; Fischer, K; Poschmann, A; Bird, G W; Wingham, J; Neumann, E
HLA-DQB1*0501-restricted Th1 type immune responses to Plasmodium falciparum liver stage antigen 1 protect against malaria anemia and reinfections.
Protective immunity against Plasmodium falciparum requires constant exposure to the pathogen. T cell-mediated immune responses are induced by T cell epitopes of pre-erythrocytic stage antigens of P. falciparum and involve HLA-restricted CD4 and CD8 cells. Cytotoxic T cell responses to a conserved epitope of P. falciparum liver stage antigen (LSA) type 1 are restricted by the HLA class I allele Bw53. The role of HLA class II alleles in mediating cellular responses against P. falciparum LSA-1 has not yet been demonstrated. In a longitudinal study performed for >4 years, associations were found between the HLA class II allele DQB1*0501 and protection from malaria anemia and malarial reinfections in Gabonese children. Children carrying DQB1*0501 had a higher frequency of interferon-gamma responses to LSA-1 T cell epitopes, compared with noncarriers. PMID:11076705
May, J; Lell, B; Luty, A J; Meyer, C G; Kremsner, P G
... for their irondeficiency anemia. These treatments include blood transfusions, medicines such as erythropoietin therapy to help the bone ... as possible. Aplastic anemia is treated with blood transfusions, medicines, blood and marrow stem cell transplants, and other ...
... from the NHLBI on Twitter. Living With Fanconi Anemia Improvements in blood and marrow stem cell transplants ... FA can be costly). Rate This Content: Fanconi Anemia Clinical Trials Clinical trials are research studies that ...
Congenital spherocytic anemia is a disorder of the surface layer (membrane) of red blood cells. It leads to red blood cells that are shaped like spheres, and premature breakdown of red blood cells ( hemolytic anemia ).
ERIC Educational Resources Information Center
Diagnosing anemia in athletes is complicated because athletes normally have a pseudoanemia that needs no treatment. Athletes, however, can develop anemia from iron deficiency or footstrike hemolysis, which require diagnosis and treatment. (Author/MT)
Eichner, Edward R.
... Wound care for leg ulcers Bone marrow or stem cell transplants can cure sickle cell anemia, but this ... cell anemia patients often cannot find well-matched stem cell donors. People with sickle cell disease should have ...
Aging is associated with increased incidence and prevalence of both cancer and anemia. Cancer and aging may conspire in making anemia more frequent and more severe. This article reviews the causes and the consequences of anemia in the older individual. The most common causes include chronic inflammation that is a typical manifestation of aging, iron deficiency that may be due
L. Balducci
We herein report on an 80-year old male patient with a history of muscle weakness, fatigue and weight loss since several months. Because of a pathologic synacthen test in combination with decreased levels of ACTH, we diagnosed a secondary chronic adrenal insufficiency. Because of a normochromic, normocytic, and hypo-proliferative anemia, bone marrow puncture was performed, showing an anemia of chronic disease. We initiated hydrocortisone and anemia and patients' symptoms were fully reconstituted. PMID:19953473
Ivanova, K; Zeller, A
hereditary anemias of mice have been the chief objects of investigation. At present under study are four macrocytic anemias, five hemolytic anemias, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, an ..cap alpha..-thalassemia, and a new target-cell anemia. Each of these blood dyscrasias is caused by the action of a unique mutant gene, which determines the structure of different intracellular molecules, and thus controls a different metabolic process. Thus our wide range of different hereditary anemias has considerable potential for uncovering many different aspects of hemopoietic homeostatic mechanisms in the mouse. Each anemia is studied through: (a) characterization of peripheral blood values, (b) determinations of radiosensitivity under a variety of conditions, (c) measurements of iron metabolism and heme synthesis, (d) histological and biochemical study of blood-forming tissue, (e) functional tests of the stem cell component, (f) examination of responses to erythroid stimuli, and (g) transplantation of tissue between individuals of differently affected genotypes.
Bernstein, S.E.; Barker, J.E.; Russell, E.S.
How Is Pernicious Anemia Treated?
... from the NHLBI on Twitter. How Is Pernicious Anemia Treated? Doctors treat pernicious anemia by replacing the missing vitamin B12 in the body. People who have pernicious anemia may need lifelong treatment. The goals of treating ...
Improving the potency of DNA vaccine against Chicken Anemia Virus (CAV) by fusing VP1 protein of CAV to Marek's Disease Virus (MDV) Type-1 VP22 protein
Background Studies have shown that the VP22 gene of Marek's Disease Virus type-1 (MDV-1) has the property of movement between cells from the original cell of expression into the neighboring cells. The ability to facilitate the spreading of the linked proteins was used to improve the potency of the constructed DNA vaccines against chicken anemia virus (CAV). Methods The VP1 and VP2 genes of CAV isolate SMSC-1 were amplified and inserted into eukaryotic co-expression vector, pBudCE4.1 to construct pBudVP2-VP1. We also constructed pBudVP2-VP1/VP22 encoding CAV VP2 and the VP22 of MDV-1 linked to the CAV VP1. In vitro expression of the genes was confirmed by using RT-PCR, Western blot and indirect immunofluorescence. The vaccines were then tested in 2-week-old SPF chickens which were inoculated with the DNA plasmid constructs by the intramuscular route. After in vivo expression studies, immune responses of the immunized chickens were evaluated pre- and post-immunization. Results Chickens vaccinated with pBudVP2-VP1/VP22 exhibited a significant increase in antibody titers to CAV and also proliferation induction of splenocytes in comparison to the chickens vaccinated with pBudVP2-VP1. Furthermore, the pBudVP2-VP1/VP22-vaccinated group showed higher level of the Th1 cytokines IL-2 and IFN-?. Conclusions This study showed that MDV-1 VP22 gene is capable of enhancing the potency of DNA vaccine against CAV when fused with the CAV VP1 gene.
Inclusion Body Anemia with Pigmenturia.
National Technical Information Service (NTIS)
Congential inclusion body anemia with abnormal pigment metabolism is a rare form of hemolytic anemia. Criteria for diagnosis of this anemia consist of (1) the presence of a hemolytic anemia since birth or early choldhood, (2) the presence of numerous larg...
T. W. Sheehy
Iron is an important mineral element used by the body in a variety of metabolic and physiologic processes. These processes are highly active when the body is undergoing physical exercises. Prevalence of exercise-induced iron deficiency anemia (also known as sports anemia) is notably high in athletic populations, particularly those with heavy training loads. The pathogenesis of sports anemia is closely related to disorders of iron metabolism, and a more comprehensive understanding of the mechanism of iron metabolism in the course of physical exercises could expand ways of treatment and prevention of sports anemia. In recent years, there have been remarkable research advances regarding the molecular mechanisms underlying changes of iron metabolism in response to physical exercises. This review has covered these advances, including effects of exercise on duodenum iron absorption, serum iron status, iron distribution in organs, erythropoiesis, and hepcidin�s function and its regulation. New methods for the treatment of exercise-induced iron deficiency are also discussed.
Cooley's Anemia Foundation Leading the Fight against Thalassemia About Us Mission/Purpose History Medical Research Board/Staff Contact the Foundation Learn about Thalassemia About Thalassemia Clinical Trials Blood ...
... Infections acquired before birth, such as toxoplasmosis, rubella, cytomegalovirus infection, herpes simplex virus infection, or syphilis, may also ... and Diamond-Blackfan anemia. Some infections (such as cytomegalovirus infection, syphilis, and HIV) also prevent the bone marrow ...
Current concepts in the pathophysiology and treatment of aplastic anemia
Aplastic anemia, an unusual hematologic disease, is the paradigm of the human bone marrow failure syndromes. Almost universally fatal just a few decades ago, aplastic anemia can now be cured or ameliorated by stem-cell transplantation or immunosuppressive drug therapy. The pathophysiology is immune mediated in most cases, with activated type 1 cyto- toxic T cells implicated. The molecular basis of
Neal S. Young; Rodrigo T. Calado; Phillip Scheinberg; Hematology Branch
[Anemia in selected diseases of the gastrointestinal tract in children].
Anemia is a frequent symptom of diseases of alimentary tract, also in children. Among others, inflammatory bowel disease, celiac disease and Helicobacter pylori are most often complicated by anemia. Not infrequently these disorders are accompanied by more than one type of anemia and moreover its pathogenesis may be complex. In children with inflammatory bowel disease iron deficiency anemia is predominant, which is caused by the loss and insufficient supply of iron, but also in this group of diseases anemia of chronic diseases pose a problem. In patient with celiac disease, especially in small children, the main cause of anemia is malabsorption of iron, also its loss due to microdamage of the intestine mucosa has also been observed. In Helicobacter pylori infection the origin of anemia is still being discussed. The treatment of iron deficiency anemia (most frequent in the diseases of the alimentary tract) consists mainly of the treatment of underlying disease, supply of iron in food and in the form of drugs. Transfusions of blood ingredients are done only in severe anemia leading to hemodynamic disturbances. Iron may be supplemented either by oral or intravenous route. PMID:23894782
Krzesiek, Elzbieta; Iwa?czak, Barbara
Equine Infectious Anemia: 2001 Update.
National Technical Information Service (NTIS)
Equine infectious anemia (EIA) has been recognized as a major infectious disease of equines for more than 150 years. Since 1970, tools have been available to identify persistently infected carriers of the equine infectious anemia virus (EIAV). Testing of ...
Facts about Diamond Blackfan Anemia
... message, please visit this page: About CDC.gov . Diamond Blackfan Anemia (DBA) Facebook Recommend Twitter Tweet Share ... Favorites Delicious Digg Google Bookmarks Facts About DBA Diamond Blackfan anemia (DBA) is a rare blood disorder ...
How Is Aplastic Anemia Diagnosed?
... from the NHLBI on Twitter. How Is Aplastic Anemia Diagnosed? Your doctor will diagnose aplastic anemia based on your medical and family histories, a ... your primary care doctor thinks you have aplastic anemia, he or she may refer you to a ...
How Is Fanconi Anemia Treated?
... from the NHLBI on Twitter. How Is Fanconi Anemia Treated? Doctors decide how to treat Fanconi anemia (FA) based on a person's age and how ... Long-term treatments for FA can: Cure the anemia. Damaged bone marrow cells are replaced with healthy ...
Management of Anemia of Inflammation in the Elderly
Anemia of any degree is recognized as a significant independent contributor to morbidity, mortality, and frailty in elderly patients. Among the broad types of anemia in the elderly a peculiar role seems to be played by the anemia associated with chronic inflammation, which remains the most complex form of anemia to treat. The origin of this nonspecific inflammation in the elderly has not yet been clarified. It seems more plausible that the oxidative stress that accompanies ageing is the real cause of chronic inflammation of the elderly and that the same oxidative stress is actually a major cause of this anemia. The erythropoietic agents have the potential to play a therapeutic role in this patient population. Despite some promising results, rHuEPO does not have a specific indication for the treatment of anemia in the elderly. Moreover, concerns about their side effects have spurred the search for alternatives. Considering the etiopathogenetic mechanisms of anemia of inflammation in the elderly population, an integrated nutritional/dietetic approach with nutraceuticals that can manipulate oxidative stress and related inflammation may prevent the onset of this anemia and its negative impact on patients' performance and quality of life.
Maccio, Antonio; Madeddu, Clelia
Anemia and inflammatory bowel diseases
Abstract Too often anemia,is considered,a rare or unimportant manifestation,in inflammatory,bowel,disease,(IBD). However, over the last 10 years a number of studies have been conducted,and the most relevant conclusions obtained are: (1) anemia,is quite common,in IBD; (2) although,in many,cases anemia,parallels the clinical activity of the disease, many patients in remission have anemia, and iron, vitamin B12 and\\/or folic acid deficiency; (3) anemia,
Fernando Gomoll�n; Javier P Gisbert
Unexplained Anemia in the Elderly
Among the elderly, anemia occurs with increasing frequency with each advancing decade. Unlike when anemia occurs in younger adults, the cause of anemia in the elderly is oftentimes not readily apparent or attributable to a single cause. However, this commonly observed form of anemia in the elderly (termed unexplained anemia [UA]) can generally be dissected to its root causes, which include renal insufficiency, inflammation, testosterone deficiency, and stem cell proliferative decline. Myelodysplasia (MDS) occurs commonly in this age group but can and should, for both diagnostic and therapeutic considerations, be distinguished from UA.
Makipour, Sasan; Kanapuru, Bindu; Ershler, William B.
For Parents of Children with Diamond Blackfan Anemia
... For Parents of Children with Diamond Blackfan Anemia Parenting Corner Q&A When your child is evaluated ... Number of children in the family � Family lifestyle � Parenting styles � Personality types of the children � Age differences ...
National Technical Information Service (NTIS)
Equine infectious anemia is a disease that affects horses, mules, and burros. EIA, also known as swamp fever, is found in all areas of the United States. Highly infectious, EIA is spread by mosquitoes, biting flies, and by use of contaminated equipment su...
Anemia and School Participation
ERIC Educational Resources Information Center
Anemia is among the most widespread health problems for children in developing countries. This paper evaluates the impact of a randomized health intervention delivering iron supplementation and deworming drugs to Indian preschool children. At baseline, 69 percent were anemic and 30 percent had intestinal worm infections. Weight increased among�
Bobonis, Gustavo J.; Miguel, Edward; Puri-Sharma, Charu
Anemia and inflammatory bowel diseases
Too often anemia is considered a rare or unimportant manifestation in inflammatory bowel disease (IBD). However, over the last 10 years a number of studies have been conducted and the most relevant conclusions obtained are: (1) anemia is quite common in IBD; (2) although in many cases anemia parallels the clinical activity of the disease, many patients in remission have anemia, and iron, vitamin B12 and/or folic acid deficiency; (3) anemia, and also iron deficiency without anemia, have important consequences in the clinical status and quality of life of the patient; (4) oral iron can lead to gastrointestinal intolerance and failure of treatment; (5) intravenous iron is an effective and safe way to treat iron deficiency; (6) erythropoietin is needed in a significant number of cases to achieve normal hemoglobin levels. Thus, the clinician caring for IBD patients should have a comprehensive knowledge of anemia, and apply recently published guidelines in clinical practice.
Gomollon, Fernando; Gisbert, Javier P
Erythroleukemia induction by replication-competent type C viruses cloned from the anemia- and polycythemia-inducing isolates of Friend leukemia virus
In this study, the biological properties of the replication-competent viruses, F-MuLVA, present in the anemia-inducing isolate of Friend leukemia virus complex (FV-A); and F-MuLVP, present in the polycythemia- inducing isolate of Friend leukemia virus complex (FV-P) have been examined. BALB/c mice infected as newborns with clonal isolates of F- MuLVA or F-MuLVP become anemic and show splenic enlargement characterized by an increased proportion of cells that resemble immature nucleated erythroid cells. In addition, the spleens of these F- MuLVA- or F-MuLVP-infected mice contain a markedly increased proportion of both erythropoietin-dependent erythroid progenitor cells and spectrin-containing erythroid cells. These results suggest that Friend murine leukemia virus (F-MuLV) by itself can induce an erythroleukemic transformation in newborn BALB/c mice similar to that induced by the anemia-inducing spleen focus-forming virus (SFFVA) in newborn or adult mice. Kinetic studies indicated that the alterations in hemopoietic cell populations induced by F-MuLVA or F-MuLVP in newborn BALB/c mice occurred more slowly than the rapid changes observed after infection with FV-A. In addition, adult BALB/c mice were fully susceptible to the erythroleukemic transformation induced by either SFFVA or SFFVP, whereas only newborn mice were susceptible to F-MuLV. Taken together, these results suggest that, although the replication-defective Friend spleen focus-forming viruses appear to be the major determinant of erythroleukemia induction in adults, the replication-competent helper F- MuLV also have erythroleukemic potential when assayed in newborn animals.
This chapter explores the management of anemia in older cancer patients. Cancer is a disease of aging: more than 50% of all\\u000a malignancies currently occur in the 12% of the population aged 65 and over; by the year 2030 older individuals are expected\\u000a to account for 20% of the population and 70% of all cancer cases (1). Though not unique
Kaaron Benson; Lodovico Balducci; Matti Aapro
Various blood indices vary in a newborn as compared to older child or adult. It depends on the gestational age, day of life, maternal factors, mode of delivery and site of blood collection. Hemoglobin, HCT & MCV tend to be higher in newborns. They further increase in first 2 days of life. Reticulocytosis and presence of nucleated red cells are normally seen in first week of life. Neonatal anemia is a common problem in NICU. It is usually caused by either hemorrhage or hemolysis and rarely due to decreased production. Hemorrhage can be ante or intra or post natal and it could be external or internal. It could be acute or chronic. Management of acute severe hemorrhage includes packed cell transfusion. Hemolysis is usually due to isoimmune hemolysis, G6PD deficiency or rarely due to the hemoglobinopathy like alpha-thalassemia or due to spherocytosis. Usually patients will have indirect hyperbilirubinemia which needs phototherapy or exchange transfusion. Rarely congenital pure red cell aplasia can present at birth with physical anomalies and anemia. Treatment of neonatal anemia depends on the arteriology. PMID:10773920
Lokeshwar, M R; Dalal, R; Manglani, M; Shah, N
Anemia in Heart Failure Patients
Heart failure is a very common disease, with severe morbidity and mortality, and a frequent reason of hospitalization. Anemia and a concurrent renal impairment are two major risk factors contributing to the severity of the outcome and consist of the cardio renal anemia syndrome. Anemia in heart failure is complex and multifactorial. Hemodilution, absolute or functional iron deficiency, activation of the inflammatory cascade, and impaired erythropoietin production and activity are some pathophysiological mechanisms involved in anemia of the heart failure. Furthermore other concomitant causes of anemia, such as myelodysplastic syndrome and chemotherapy, may worsen the outcome. Based on the pathophysiology of cardiac anemia, there are several therapeutic options that may improve hemoglobin levels, tissues' oxygenation, and probably the outcome. These include administration of iron, erythropoiesis-stimulating agents, and blood transfusions but still the evidence provided for their use remains limited.
Alexandrakis, Michael G.; Tsirakis, George
Anemia in Kidney Disease and Dialysis
... value of the hematocrit. [ Top ] When does anemia begin? Anemia may begin to develop in the early stages of kidney ... test that measures creatinine. Experts recommend that doctors begin a detailed evaluation of anemia in men and ...
Treatment of iron deficiency anemia in pediatric inflammatory bowel disease
Opinion statement��Anemia is a frequent extraintestinal manifestation of inflammatory bowel disease (IBD) that is commonly overlooked, despite\\u000a its significant impact on quality of life. Characteristic symptoms include chronic fatigue, headache, and subtle impairment\\u000a of cognitive function, although some less common symptoms include dyspnea, dizziness, pica, angular stomatitis, shortened\\u000a attention span, and esophageal webs. Several types of anemia are associated with
Meena Thayu; Petar Mamula
'VA', a new type of erythrocyte polyagglutination characterized by depressed H receptors and associated with hemolytic anemia. II. Observations by immunofluorescence, electron microscopy, cell electrophoresis and Biochemistry.
With help of immunoflorescence, best with anti-AHP from Helix pomatia, a stippled structure could be demonstrated on the patient"s red blood cells. Thus an "A-like" receptor could be detected on the erythrocyte membrane of this group O patient. The reactive antigen was proved not to be a crypt antigen exposed by the action of neuraminidase. The same stippled fluorescence with antiAhp was observed on the red blood cells of a patient suffering from hemolytic anemia induced by influnza A2 virus. In this case this virus was shown not to be responsible for polyagglutination. No virus or microorganism could be isolated from the patient"s blood. Also by immunofluorescence the weak expression of the H antigen could be demonstrated with an extract of Evonymus europaeus. Electron microscopy of erythrocytes was normal. The neuraminic acid content and the electrophoretic mobility were found to be decreased to a minor degree. No distinct cell populations could be observed. PMID:324127
Graninger, W; Poschmann, A; Fischer, K; Schedl-Giovannoni, I; H�randner, H; Klaushofer, K
Managing Anemia of Chronic Kidney Disease
Anemia begins early in the course of declining kidney function and is a frequent complication of chronic kidney disease. Both anemia and chronic kidney disease are underdiagnosed and undertreated. Anemia is associated with significantly increased risk of morbidity and mortality, including increased risks of left ventricular hypertrophy and heart failure. Although the detrimental effects of anemia are more common in
Susan A. Krikorian
The author presents a novel algorithm for anaemia based on the erythrocyte haemoglobin content. The scheme is based on the aberrations of erythropoiesis and not on the pathophysiology of anaemia. The hemoglobin content of one erytrocyte is between 28-35 picogram. Any disturbance in hemoglobin synthesis can lead to a lower than 28 picogram hemoglobin content of the erythrocyte which will lead to hypochromic anaemia. In contrary, disturbances of nucleic acid metabolism will result in a hemoglobin content greater than 36 picogram, and this will result in hyperchromic anaemia. Normochromic anemia, characterised by hemoglobin content of erythrocytes between 28 and 35 picogram, is the result of alteration in the proliferation of erythropoeisis. Based on these three categories of anaemia, a unique system can be constructed, which can be used as a model for basic laboratory investigations and work-up of anaemic patients. PMID:24583558
Egyed, Mikl�s
Immunotherapy treatments of warm autoimmune hemolytic anemia.
Warm autoimmune hemolytic anemia (WAIHA) is one of four clinical types of autoimmune hemolytic anemia (AIHA), with the characteristics of autoantibodies maximally active at body temperature. It produces a variable anemia-sometimes mild and sometimes severe. With respect to the absence or presence of an underlying condition, WAIHA is either idiopathic (primary) or secondary, which determines the treatment strategies in practice. Conventional treatments include immune suppression with corticosteroids and, in some cases, splenectomy. In recent years, the number of clinical studies with monoclonal antibodies and immunosuppressants in the treatment of WAIHA increased as the knowledge of autoimmunity mechanisms extended. This thread of developing new tools of treating WAIHA is well exemplified with the success in using anti-CD20 monoclonal antibody, Rituximab. Following this success, other treatment methods based on the immune mechanisms of WAIHA have emerged. We reviewed these newly developed immunotherapy treatments here in order to provide the clinicians with more options in selecting the best therapy for patients with WAIHA, hoping to stimulate researchers to find more novel immunotherapy strategies. PMID:24106518
Liu, Bainan; Gu, Wangang
Immunotherapy Treatments of Warm Autoimmune Hemolytic Anemia
Warm autoimmune hemolytic anemia (WAIHA) is one of four clinical types of autoimmune hemolytic anemia (AIHA), with the characteristics of autoantibodies maximally active at body temperature. It produces a variable anemia�sometimes mild and sometimes severe. With respect to the absence or presence of an underlying condition, WAIHA is either idiopathic (primary) or secondary, which determines the treatment strategies in practice. Conventional treatments include immune suppression with corticosteroids and, in some cases, splenectomy. In recent years, the number of clinical studies with monoclonal antibodies and immunosuppressants in the treatment of WAIHA increased as the knowledge of autoimmunity mechanisms extended. This thread of developing new tools of treating WAIHA is well exemplified with the success in using anti-CD20 monoclonal antibody, Rituximab. Following this success, other treatment methods based on the immune mechanisms of WAIHA have emerged. We reviewed these newly developed immunotherapy treatments here in order to provide the clinicians with more options in selecting the best therapy for patients with WAIHA, hoping to stimulate researchers to find more novel immunotherapy strategies.
Gu, Wangang
Anemia Due to Excessive Bleeding
... Blood Cell Disorders Plasma Cell Disorders Leukemias Lymphomas Myeloproliferative Disorders Spleen Disorders Topics in Anemia Overview of ... stomach or small intestine and diverticulosis, polyps, or cancers in the large intestine. Other sources of chronic ...
Fanconi Anemia Relationship to Cancer
... patients have a much greater risk of developing acute myeloid leukemia (AML) than people without Fanconi anemia. Leukemia Leukemia ... more... Seattle gene therapy clinical trial opens to children 4 years and older learn more... home learn ...
Molecular Pathogenesis of Fanconi Anemia
Fanconi anemia (FA) is a rare inherited disorder characterized clinically by aplastic anemia, developmental defects, and a susceptibility to cancer. Eleven complementation groups have been identified (FA-A, -B, -C, -D1, -D2, -E, -F, -G, -I, -J, and -L), and the genes responsible for 9 groups (FANCA, B, C, D1, D2, E, F, G, and L) have been cloned. The proteins
Natalie Collins; Gary M. Kupfer
Iron refractory iron deficiency anemia
Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values. The anemia appears in the post-natal period, although in some cases it is only diagnosed in adulthood. The disease is refractory to oral iron treatment but shows a slow response to intravenous iron injections and partial correction of the anemia. To date, 40 different Matriptase-2 mutations have been reported, affecting all the functional domains of the large ectodomain of the protein. In vitro experiments on transfected cells suggest that Matriptase-2 cleaves Hemojuvelin, a major regulator of hepcidin expression and that this function is altered in this genetic form of anemia. In contrast to the low/undetectable hepcidin levels observed in acquired iron deficiency, in patients with Matriptase-2 deficiency, serum hepcidin is inappropriately high for the low iron status and accounts for the absent/delayed response to oral iron treatment. A challenge for the clinicians and pediatricians is the recognition of the disorder among iron deficiency and other microcytic anemias commonly found in pediatric patients. The current treatment of iron refractory iron deficiency anemia is based on parenteral iron administration; in the future, manipulation of the hepcidin pathway with the aim of suppressing it might become an alternative therapeutic approach.
De Falco, Luigia; Sanchez, Mayka; Silvestri, Laura; Kannengiesser, Caroline; Muckenthaler, Martina U.; Iolascon, Achille; Gouya, Laurent; Camaschella, Clara; Beaumont, Carole
Iron deficiency: beyond anemia.
Iron deficiency is the most common nutritional disorder affecting at least one third of world's population. Though anemia is common manifestation of iron deficiency, other effects of iron deficiency on various tissues, organs and systems are usually under recognized. Impaired brain development and cognitive, behavioural and psychomotor impairment are most worrisome manifestations of iron deficiency. Studies have demonstrated that some of these changes occurring during period of brain growth spurt (<2 years age) may be irreversible. Association of iron deficiency with febrile seizures, pica, breath holding spells, restless leg syndrome and thrombosis is increasingly being recognized. Impaired cell-mediated immunity and bactericidal function are generally noted in iron-deficient persons; however, the findings are inconsistent. Despite proven reversible functional immunological defects in vitro studies, a clinically important relationship between states of iron deficiency and susceptibility to infections remains controversial. Studies from malaria endemic regions have reported increased incidence of malaria in association with iron supplementation. These and some other aspects of iron deficiency are reviewed in this article. PMID:20814842
Yadav, Dinesh; Chandra, Jagdish
Malaria, erythrocytic infection, and anemia.
Malaria is a major world health problem. It results from infection of parasites belonging to the genus Plasmodium. Plasmodium falciparum and Plasmodium vivax cause the major human malarias, with P falciparum being the more virulent. During their blood stages of infection, both P falciparum and P vivax induce anemia. Severe malarial anemia caused by P falciparum is responsible for approximately a third of the deaths associated with disease. Malarial anemia appears to be multi-factorial. It involves increased removal of circulating erythrocytes as well as decreased production of erythrocytes in the bone marrow. The molecular mechanisms underlying malarial anemia are largely unknown. Over the last five years, malaria parasite ligands have been investigated for their remodeling of erythrocytes and possible roles in destruction of mature erythrocytes. Polymorphisms in cytokines have been associated with susceptibility to severe malarial anemia: these cytokines and malaria "toxins" likely function by perturbing erythropoiesis. Finally a number of co-infections increase susceptibility to malarial anemia, likely because they exacerbate inflammation caused by malaria. Because of the complexities involved, the study of severe malarial anemia may need a "systems approach" to yield comprehensive understanding of defects in both erythropoiesis and immunity associated with disease. New and emerging tools such as (i) mathematical modeling of the dynamics of host control of malarial infection, (ii) ex vivo perfusion of human spleen to measure both infected and uninfected erythrocyte retention, and (iii) in vitro development of erythroid progenitors to dissect responsiveness to cytokine imbalance or malaria toxins, may be especially useful to develop integrated mechanistic insights and therapies to control this major and fatal disease pathology. PMID:20008186
Haldar, Kasturi; Mohandas, Narla
Classification of anemia for gastroenterologists
Most anemia is related to the digestive system by dietary deficiency, malabsorption, or chronic bleeding. We review the World Health Organization definition of anemia, its morphological classification (microcytic, macrocytic and normocytic) and pathogenic classification (regenerative and hypo regenerative), and integration of these classifications. Interpretation of laboratory tests is included, from the simplest (blood count, routine biochemistry) to the more specific (iron metabolism, vitamin B12, folic acid, reticulocytes, erythropoietin, bone marrow examination and Schilling test). In the text and various algorithms, we propose a hierarchical and logical way to reach a diagnosis as quickly as possible, by properly managing the medical interview, physical examination, appropriate laboratory tests, bone marrow examination, and other complementary tests. The prevalence is emphasized in all sections so that the gastroenterologist can direct the diagnosis to the most common diseases, although the tables also include rare diseases. Digestive diseases potentially causing anemia have been studied in preference, but other causes of anemia have been included in the text and tables. Primitive hematological diseases that cause anemia are only listed, but are not discussed in depth. The last section is dedicated to simplifying all items discussed above, using practical rules to guide diagnosis and medical care with the greatest economy of resources and time.
Moreno Chulilla, Jose Antonio; Romero Colas, Maria Soledad; Gutierrez Martin, Martin
Inborn anemias in mice: (Annual report, 1980-1981)
The basic purpose of this study is the delineation and exploitation of inborn anemias of the laboratory mouse, carried out by utilization of genetically homogeneous stocks segregating only for anemia-producing genes; by physiological and histological descriptions of each condition at all stages in the life history; by determination of tissue sites of primary gene action through tissue culture studies, tissue transplantation and parabiosis experiments; by analysis of reactions of normal and anemic mice to a variety of stressful stimuli, including x-irradiation, hypoxia, and toxic chemicals, and by biochemical comparisons between tissues, especially erythrocytes and hemopoietic cells of normal vs each type of anemic mouse. At present 16 single-locus anemias are known in the mouse, plus one with multifactorial inheritance (the autoimmune hemolytic anemia of NZB inbred mice). Of these, six are maintained only by the Jackson Laboratory, and two others have but one additional source. Effects of anemia-producing mutant alleles of these loci (an; f; ja; ha; Hba/sup th/; mk; nb; Sl and Sl/sup d/; sla; sph; and W, W/sup v/, W/sup J/ and 10 other putative W-alleles) are currently under investigation at the Jackson Laboratory. 15 refs.
Bernstein, S.E.
Genetics Home Reference: Diamond-Blackfan anemia
... first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor). People with Diamond-Blackfan anemia have an increased risk of several serious complications related to their malfunctioning ...
FastStats: Anemia or Iron Deficiency
... Data Related Links Accessibility NCHS Home FastStats Home Anemia or Iron Deficiency Data are for the U.S. ... care Number of visits to emergency departments with anemia as the primary diagnosis: 209,000 Source: National ...
How Is Sickle Cell Anemia Treated?
... from the NHLBI on Twitter. How Is Sickle Cell Anemia Treated? Sickle cell anemia has no widely ... severity of the disease. Blood and Marrow Stem Cell Transplant A blood and marrow stem cell transplant ...
Optimal management of pernicious anemia
Pernicious anemia (also known as Biermer�s disease) is an autoimmune atrophic gastritis, predominantly of the fundus, and is responsible for a deficiency in vitamin B12 (cobalamin) due to its malabsorption. Its prevalence is 0.1% in the general population and 1.9% in subjects over the age of 60 years. Pernicious anemia represents 20%�50% of the causes of vitamin B12 deficiency in adults. Given its polymorphism and broad spectrum of clinical manifestations, pernicious anemia is a great pretender. Its diagnosis must therefore be evoked and considered in the presence of neurological and hematological manifestations of undetermined origin. Biologically, it is characterized by the presence of anti-intrinsic factor antibodies. Treatment is based on the administration of parenteral vitamin B12, although other routes of administration (eg, oral) are currently under study. In the present update, these various aspects are discussed with special emphasis on data of interest to the clinician.
Andres, Emmanuel; Serraj, Khalid
Fanconi Anemia and its Diagnosis
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both hematologic malignancies and solid tumors. Congenital anomalies vary from patient to patient and may affect skeletal morphogenesis as well as any of the major organ systems. Although this highly variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, laboratory study of chromosomal breakage induced by diepoxybutane (DEB) or other crosslinking agents provides a unique cellular marker for the diagnosis of the disorder either prenatally or postnatally. Diagnosis based on abnormal response to DNA crosslinking agents can be used to identify the pre-anemia patient as well as patients with aplastic anemia or leukemia who may or may not have the physical stigmata associated with the syndrome. This overview will present our present knowledge regarding the varied phenotypic manifestations of FA and procedures for diagnosis based upon abnormal DNA damage responses.
Auerbach, Arleen D.
Erythropoietin Deficiency and Late-Life Anemia
As discussed extensively in this volume, anemia occurs with increasing frequency as people age. Curiously, a specific explanation\\u000a for anemia is less readily apparent for older patients and approximately one-third of those with anemia over 65 years of age\\u000a meet criteria for �Unexplained Anemia� (UA) as defined by Guralnik (1) and Artz (2). Although, by definition, those with kidney\\u000a disease
Bindu Kanapuru; Andrew S. Artz; William B. Ershler
Target for glycemic control in type 2 diabetic patients on hemodialysis: effects of anemia and erythropoietin injection on hemoglobin A(1c).
In hemodialysis (HD) patients the glycated hemoglobin (Hb(A1c)) level may underestimate glycemic control. The aim of this study is to estimate accurate glycemic control in type 2 diabetic patients on HD. Type 2 diabetes patients (N = 87) who had been receiving maintenance HD for at least one year were enrolled. Hb(A1c) and the percentage of glycated albumin relative to total the serum albumin (%GA) were measured in blood samples and the factors that affected the %GA/Hb(A1c) ratio were examined. There were significant and positive correlations between the plasma glucose and either the Hb(A1c) levels (r = 0.539, P < 0.01) or the %GA level (r = 0.520, P < 0.01). No relationship between the serum albumin levels and %GA levels was observed. A weekly dose of erythropoietin (EPO) was positively correlated with the ratio of %GA/Hb(A1c) and hematocrit (Ht) correlated negatively. There was no significant correlation between the %GA/Hb(A1c) level and the EPO dose in patients with Ht > or = 30%, although a significant correlation was found between those parameters in the Ht < 30% group. The mean of the %GA/Hb(A1c) ratios in patients with Ht > or = 30%, with Ht < 30% and treated with EPO < 100 IU/kg/week, and with Ht < 30% and treated with EPO > or = 100 IU/kg/week were 3.41, 3.56 and 4.13, respectively. In HD patients, accurate glycemic control may be estimated as: Hb(A1c) x 1.14 if Ht > or = 30%; Hb(A1c) x 1.19 if Ht < 30% and treated with low dosages of EPO; and Hb(A1c) x 1.38 if Ht < 30% and treated with high dosages of EPO. PMID:19379146
Uzu, Takashi; Hatta, Tsuguru; Deji, Naoko; Izumiya, Tamani; Ueda, Hisami; Miyazawa, Itsuko; Kanasaki, Masami; Isshiki, Keiji; Nishio, Toshiji; Arimura, Tetsuro
Erythropoietic stress and anemia in diabetes mellitus
Anemia is one of the world's most common preventable conditions, yet it is often overlooked, especially in people with diabetes mellitus. Diabetes-related chronic hyperglycemia can lead to a hypoxic environment in the renal interstitium, which results in impaired production of erythropoietin by the peritubular fibroblasts and subsequent anemia. Anemia in patients with diabetes mellitus might contribute to the pathogenesis and
Peter Winocour; Dhruv K. Singh; Ken Farrington
Inborn Anemias of Mice: Terminal Progress Report.
National Technical Information Service (NTIS)
Mutations located at 11 different chromosomal locations in the mouse all affecting hemopoiesis have been studied. These include: Hertwig's anemia (an), W-anemias (W, W/sup v/, W/sup 17J/ to W/sup 41J/), Steel anemias (Sl, Sl/sup d/, etc.), Normoblastic an...
S. E. Bernstein
Iron and anemia of chronic disease
Iron and anemia of chronic disease. Anemia of chronic disease (ACD) is the most frequent anemia found in hospitalized patients, often occurring in subjects suffering from chronic inflammatory disorders. The underlying diversion of iron traffic leads to a withdrawal of the metal from the sites of erythropoiesis and the circulation to the storage compartment in the reticuloendothelial system, thus resulting,
Pulmonary hypertension in hemolytic anemias
Pulmonary hypertension (PH) has been reported with nearly all forms of the inherited as well as the acquired hemolytic anemias. Recent research investigating the pathophysiology of PH in sickle cell disease and thalassemia has helped elucidate the central role of hemolysis-mediated endothelial dysfunction in the development of PH in these populations. Although the most appropriate treatment of PH in patients with hemolytic anemia is not clearly defined, the associated significant increased risk of death underscores the need for randomized clinical trials in this area.
Vichinsky, Elliott
Inborn Anemias in Mice. Progress Report, 1 May 1976--31 July 1977.
National Technical Information Service (NTIS)
Hereditary anemias of mice have been the chief objects of investigation. At present under study are four macrocytic anemias, four hemolytic anemias, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, and the a...
E. S. Russell S. E. Bernstein
Inborn Anemias in Mice. Progress Report, 1 May 1977--31 July 1978.
National Technical Information Service (NTIS)
Hereditary anemias of mice have been the chief objects of investigation. At present under study are four macrocytic anemias, four hemolytic anemias, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, and the a...
S. E. Bernstein E. S. Russell
Stem Cell Gene Therapy for Fanconi Anemia: Report from the 1st International Fanconi Anemia Gene Therapy Working Group Meeting
Survival rates after allogeneic hematopoietic cell transplantation (HCT) for Fanconi anemia (FA) have increased dramatically since 2000. However, the use of autologous stem cell gene therapy, whereby the patient's own blood stem cells are modified to express the wild-type gene product, could potentially avoid the early and late complications of allogeneic HCT. Over the last decades, gene therapy has experienced
Jakub Tolar; Jennifer E Adair; Michael Antoniou; Cynthia C Bartholomae; Pamela S Becker; Bruce R Blazar; Juan Bueren; Thomas Carroll; Marina Cavazzana-Calvo; D Wade Clapp; Robert Dalgleish; Anne Galy; H Bobby Gaspar; Helmut Hanenberg; Christof Von Kalle; Hans-Peter Kiem; Dirk Lindeman; Luigi Naldini; Susana Navarro; Raffaele Renella; Paula Rio; Juli�n Sevilla; Manfred Schmidt; Els Verhoeyen; John E Wagner; David A Williams; Adrian J Thrasher
Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis.
Alpha-mannosidase-II (alphaM-II) catalyzes the first committed step in the biosynthesis of complex asparagine-linked (N-linked) oligosaccharides (N-glycans). Genetic deficiency of alphaM-II should abolish complex N-glycan production as reportedly does inhibition of alphaM-II by swainsonine. We find that mice lacking a functional alphaM-II gene develop a dyserythropoietic anemia concurrent with loss of erythrocyte complex N-glycans. Unexpectedly, nonerythroid cell types continued to produce complex N-glycans by an alternate pathway comprising a distinct alpha-mannosidase. These studies reveal cell-type-specific variations in N-linked oligosaccharide biosynthesis and an essential role for alphaM-II in the formation of erythroid complex N-glycans. alphaM-II deficiency elicits a phenotype in mice that correlates with human congenital dyserythropoietic anemia type II. PMID:9230311
Chui, D; Oh-Eda, M; Liao, Y F; Panneerselvam, K; Lal, A; Marek, K W; Freeze, H H; Moremen, K W; Fukuda, M N; Marth, J D
Cooley's Anemia: A Psychosocial Directory.
ERIC Educational Resources Information Center
The directory is intended to aid patients and their families who are coping with the genetic disorder of Cooley's anemia. A brief review of the disease covers background, genetics, symptoms, effect on the patient, treatment, and current research. The next section looks at psychosocial needs at various times (time of diagnosis, infancy and toddler�
National Center for Education in Maternal and Child Health, Washington, DC.
Erythema nodosum and pernicious anemia.
Erythema nodosum (EN) often presents as a sudden onset of tender, erythematous, subcutaneous nodules on the legs and ankles. Although rare, pernicious anemia may be related to vitamin B12 deficiency. Discussion of this association in the context of a particular patient is presented. PMID:24010520
Milman, Perry J; Goldenberg, Steven P; Scheinfeld, Noah; Pereira, Frederick A
An aqueous lipoid extract of ox spleen was prepared which protects adult male albino rats of carrier stock in a large percentage of instances against Bartonella muris anemia following splenectomy. It is suggested that the extract contains a specific hormonal substance.
Perla, David; Marmorston-Gottesman, J.
Treatment of Sickle Cell Anemia.
National Technical Information Service (NTIS)
The patent application relates to the discovery that cyanate, such as a 0.01-1.0M potassium cyanate solution, is useful to prevent the sickling of the red blood cells of sickle cell anemia patients. It has also been discovered that red blood cells when ta...
A. Cerami J. M. Manning
Hematological parameters and prevalence of anemia among free-living elderly in south Brazil
Objective The aims of this study were to analyze the hematological parameters, the prevalence of anemia and the association between anemia and socioeconomic conditions in an elderly community-based population. Methods A population-based study was performed as part of the Multidimensional Study of the Elderly in Porto Alegre, Brazil (EMIPOA). An initial total of 1058 community residents aged 60 years and older were interviewed. Of these, 392 agreed to have a physical evaluation and a blood sample was taken from each. The hematological parameters analyzed in the blood samples included the hemoglobin concentration, mean cell volume (MCV), mean corpuscular hemoglobin concentration (MCHC) and red cell distribution width (RDW). The association between the variables and the diagnosis of anemia was assessed using the chi-squared test and a multiple logistic regression model. Results The overall prevalence of anemia was 12.8%. Anemia was present in 13.7% of women and in 10.4% of men. Normocytic normochromic anemia without anisocytosis was the most common type of anemia (46%). The assessment of erythrocyte morphology showed significant differences between anemic and non-anemic individuals (microcytosis = 12% vs. 1.5%, hypochromia = 40% vs. 8.8%, and anisocytosis = 26% vs. 7%). In the analysis of socioeconomic conditions, significant differences were found in respect to age and race. Conclusion The prevalence of anemia increases with age and is associated with race, microcytosis, hypochromia and anisocytosis. Anemia is not a condition that should be associated only with the aging process, as it may be due to pathological conditions that occur most frequently in this age group. As a result, a diagnosis of anemia warrants adequate clinical attention.
Sgnaolin, Vanessa; Engroff, Paula; Ely, Luisa Scheer; Schneider, Rodolfo Herberto; Schwanke, Carla Helena Augustin; Gomes, Irenio; Morrone, Fernanda Bueno; de Carli, Geraldo Attilio
Lack of known hepatitis virus in hepatitis-associated aplastic anemia and outcome after bone marrow transplantation
Viral infection has been shown to induce aplastic anemia, unidentified types of hepatitis being the most common cause for aplastic anemia-associated viral hepatitis. The survival rate for this group of patients after bone marrow transplantation with stem cells from an HLA-matched sibling is not well known. The aim of this study was to determine the prevalence of hepatitis G virus
R Safadi; Y Ilan; E Naparstek; A Nagler; A Klein; M Ketzinel-Gilaad; K Ergunay; D Danon; D Shouval; E Galun
Pagophagia in iron deficiency anemia.
The relationship between pagophagia (ice pica) and iron deficiency anemia was studied. All 81 patients with iron deficiency anemia defined as hemoglobin <12.0 g/dl and ferritin level <12 ng/ml were interviewed about their habits of eating ice or other non-food substances. Pagophagia was defined as compulsive and repeated ingestion of at least one tray of ice or ice eating which was relieved after iron administration. Pagophagia was present in 13 patients (16.0%). All patients who received oral iron were periodically assessed employing a questionnaire on pagophagia and laboratory data. Iron therapy can cure the pagophagia earlier than hemoglobin recovery and repair of tissue iron deficiency. Although the pathogenesis of pagophagia is unclear, a biochemical approach involving the central nervous system might elucidate the mechanism underlying these abnormal behaviors. PMID:24850454
Uchida, Tatsumi; Kawati, Yasunori
Fanconi anemia - learning from children
Fanconi Anemia (FA) is a rare autosomic recessive and X-linked disease with chromosomal instability after exposure to crosslinking agents as the hallmark. Clinical features of FA are somatic malformations, progressive bone marrow failure and cancer proneness, however there is wide clinical heterogeneity. The symptom most frequently and early associated with morbidity and mortality is progressive pancytopenia in the first decade of life although acute myelogenous leukemia (AML) or myelodysplastic syndrome (MDS) can appear before aplastic anemia. Squamous cell carcinoma (SCC) of the head-neck, intestinal or genital tract has a very high incidence in FA and can appear at young age. This paper will focus on treatment of bone marrow failure in FA.
Svahn, Johanna; Dufour, Carlo
Geoepidemiology of autoimmune hemolytic anemia
Autoantibodies against red blood cell antigens are considered the diagnostic hallmark of AIHA: Direct antiglobulin test (DAT) completed by cytofluorometry and specific diagnostic monoclonal antibodies (mAbs) allow for a better understanding of autoimmune hemolytic anemia (AIHA) triggers. Once B-cell tolerance checkpoints are bypassed, the patient loses self-tolerance, if the AIHA is not also caused by an possible variety of secondary
Jean-Francois Lambert; Urs E. Nydegger
Immune pathophysiology of aplastic anemia
Aplastic anemia (AA) remains an elusive disease. Its pathophysiology is not only fascinating by the seemingly simple findings\\u000a of cytopenia and marrow hypoplasia, but may also contain key information to the understanding of other fundamental processes\\u000a such as stem cell regeneration, evolution, and immune control of clonal diseases. Although measurements of blood counts provide\\u000a an objective tool to assess the
Jaroslaw P. Maciejewski; Antonio Risitano; Hoon Kook; Weihua Zeng; Guibin Chen; Neal S. Young
Refractory anemia with ring sideroblasts.
Refractory anemia with ring sideroblasts (RARS) is a subtype of myelodysplastic syndrome (MDS) characterized by 15% or more ring sideroblasts in the bone marrow according to the WHO classification. After Perls staining, ring sideroblasts are defined as erythroblasts in which there are 5 or more siderotic granules covering at least a third of the nuclear circumference. The iron deposited in perinuclear mitochondria of ring sideroblasts is present in the form of mitochondrial ferritin. The molecular basis of MDS with ring sideroblasts has remained unknown until recently. In 2011, whole exome sequencing studies revealed somatic mutations of SF3B1, a gene encoding a core component of RNA splicing machinery, in myelodysplasia with ring sideroblasts. The close relationship between SF3B1 mutation and ring sideroblasts is consistent with a causal relationship, and makes SF3B1 the first gene to be associated with a specific morphological feature in MDS. RARS is mainly characterized by isolated anemia due to ineffective erythropoiesis, and its clinical course is generally benign, although there is a tendency to worsening of anemia in most patients over time. By contrast, refractory cytopenia with multilineage dysplasia and ring sideroblasts (RCMD-RS) is characterized by pancytopenia and dysplasia in two or more myeloid cell lineages. More importantly, patients with RCMD-RS have a higher risk of developing bone marrow failure or progressing to acute myeloid leukemia (AML). Refractory anemia with ring sideroblasts (RARS-T) associated with marked thrombocytosis is a myelodysplastic/myeloproliferative neoplasm associated with both SF3B1 and JAK2 or MPL mutations. RARS-T may develop from an SF3B1 mutated RARS through the acquisition of a JAK2 or MPL mutations in a subclone of hematopoietic cells. PMID:24507814
Malcovati, Luca; Cazzola, Mario
Inborn anemias in mice: (Annual report, 1982-1983)
The nature of the defects that shorten the effective lifespan of red blood cells in the circulation and which gave rise to anemia, jaundice and to spleen, liver and heart enlargement are studied because they so closely parallel inherited hemolytic anemias in man. In mice, ''hemolytic disease'' initiated by the ja, sph, sph/sup ha/, or the nb genes has been traced to abnormalities in the protein components of their red cell membranes. Polyacrylamide gel electrophoresis of detergent solubilized membranes reveal that in the different genetic types one or more of the major high molecular weight proteins called spectrins is decreased or totally missing. It is one thing to observe a correlation between missing or defective components in selected analytical procedures, and another to establish a causal relationship between the two. To investigate the possible interrelationships, we examined the associations between spectrin or ankyrin content, the severity of the resulting anemia, red cell osmotic fragilities, and the capacity of cells from each genotype to be deformed in a continuous osmotic gradient at constant sheer stress. Our findings indicate that sensitivity to osmotic stress, cell rigidity (inadequate deformability), deficiency of spectrin or ankyrin, and the severity of the anemia, are statistically highly correlated. 11 refs., 3 tabs.
Bernstein, S.E.
Anemia affects the quality of life of Japanese cancer patients.
The Functional Assessment of Cancer Therapy-Anemia (FACT-An) was developed to measure the effect of anemia on quality of life (QOL) in cancer patients. We have previously validated the Japanese version of the FACT-An in Japanese cancer patients receiving chemotherapy, hormone therapy, or radiation therapy. That analysis was limited to evaluating the relationship between QOL scores and hemoglobin (Hb) levels. In this study, the data were further analyzed in order to identify factors that affect QOL. The mean Hb level of the patients was unchanged over three months. Patient age, Eastern Oncology Group Performance Status (ECOG-PS) score, Hb level, and the type of treatment method received were each predictive factors of a patient's FACT-An score at baseline, while the patient's Hb level at three months and whether the patient had received a blood transfusion were both predictive factors of a patient's FACT-An score at three months. Anemia consistently negatively affected the QOL of cancer patients measured over a three-month period. These results confirm the clinical effectiveness of the FACT-An as a tool to assess anemia-related QOL in Japanese cancer patients. PMID:23564569
Wasada, Izumi; Eguchi, Hisae; Kurita, Maya; Kudo, Shitomi; Shishida, Tomoko; Mishima, Yaeko; Saito, Yuko; Ushiorozawa, Nobuko; Seto, Takashi; Shimozuma, Kojiro; Morita, Satoshi; Saito, Mari; Yokomizo, Yuki; Ishizawa, Kenichi; Ohashi, Yasuo; Eguchi, Kenji
Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children.
Diamond-Blackfan anemia is a rare, inherited disease that characteristically presents as a chronic, normochromic macrocytosis due to red cell lineage bone marrow failure. Although studies are elaborating on the genetic basis for its associated comorbidities, little has been published comparing this anemia to other chronic anemias that have similar laboratory results in children. This article offers a global perspective of the disease and compares it with anemia due to vitamin B12 and folate deficiency in children. PMID:24662257
Gelbart, David
Anemia and Iron Deficiency in Developing Countries
Iron deficiency and anemia are major public health concerns throughout the world and are of special concern in many developing\\u000a countries where the incidence and severity of anemia in certain populations is very high. Pregnant women, women of childbearing\\u000a age, and young children are especially vulnerable to iron deficiency and iron-deficiency anemia (IDA) because of increased\\u000a iron needs during growth
Usha Ramakrishnan; Beth Imhoff-Kunsch
A mouse model of anemia of inflammation: complex pathogenesis with partial dependence on hepcidin.
Anemia is a common complication of infections and inflammatory diseases, but the few mouse models of this condition are not well characterized. We analyzed in detail the pathogenesis of anemia induced by an injection of heat-killed Brucella abortus and examined the contribution of hepcidin by comparing wild-type (WT) to iron-depleted hepcidin-1 knockout (Hamp-KO) mice. B abortus-treated WT mice developed severe anemia with a hemoglobin nadir at 14 days and partial recovery by 28 days. After an early increase in inflammatory markers and hepcidin, WT mice manifested hypoferremia, despite iron accumulation in the liver. Erythropoiesis was suppressed between days 1 and 7, and erythrocyte destruction was increased as evidenced by schistocytes on blood smears and shortened red blood cell lifespan. Erythropoietic recovery began after 14 days but was iron restricted. In B abortus-treated Hamp-KO compared with WT mice, anemia was milder, not iron restricted, and had a faster recovery. Similarly to severe human anemia of inflammation, the B abortus model shows multifactorial pathogenesis of inflammatory anemia including iron restriction from increased hepcidin, transient suppression of erythropoiesis, and shortened erythrocyte lifespan. Ablation of hepcidin relieves iron restriction and improves the anemia. PMID:24357728
Kim, Airie; Fung, Eileen; Parikh, Sona G; Valore, Erika V; Gabayan, Victoria; Nemeth, Elizabeta; Ganz, Tomas
Anemia Among Hospitalized Children at a Multispecialty Hospital, Bangalore (Karnataka), India
Background: Due to the limited availability of data related to anemia in hospitalized children, this research was conducted to study the occurrence, morphological patterns, distribution in different age groups, sex, and severity of anemia among children aged 6 months-12 years. Setting: Inpatients in department of pediatrics at a multispecialty hospital, Bangalore. Study Design: Descriptive cross sectional study from Oct, 2011 to Sep, 2012. Materials and Methods: Ethical clearance was obtained from the ethical committee of the hospital as per 1964 Declaration of Helsinki. Unrestricted random sampling method was used to select the study group consisting of 882 children between the age of 6 months and 12 years. After obtaining the consent, data were obtained and statistically analyzed using statistical tools like mean, median, standard deviation, and Chi-square test. Results: Out of 882 children selected, 642 (72.79%) were anemic, out of which a majority of 629 (98%) children suffered from nonhemoglobinopathies and a meagre 13 (2%) suffered from hemoglobinopathies. Children in the age group of 6 months-1 year were most affected with nonhemoglobinopathies (33%). Moderate degree of anemia (hemoglobin = 7-9.9 g/dL) was the commonest grade of anemia (80%), while microcytic hypochromic anemia was commonest morphological type of anemia (48%). Among hemoglobinopathies, thalassemia major was the most common (69%, that is 9 out of 13 patients). Conclusion: The occurrence of anemia among children aged between 6 months and 12 years is high and nonhemoglobinopathies predominate over the hemoglobinopathies.
Saba, Firdos; Poornima, Siddaraju; Balaji, Pishey Ashwathnarayan Rao; Varne, Smitha Ranoji Rao; Jayashree, Krishnamurthy
Anemia and anemia correction: surrogate markers or causes of morbidity in chronic kidney disease?
Observational studies have shown a strong positive correlation between the severity of anemia and the risk of poor outcomes in patients with chronic kidney disease (CKD). This observation was initially taken to imply that adverse outcomes in CKD are caused by anemia. However, the assumption of causality ignores the possibility that anemia and adverse outcomes might be unrelated and that
Nosratola D Vaziri
Lindane (Kwell)-induced aplastic anemia.
Numerous toxic exposures have been implicated in causing aplastic anemia. Thirteen cases of aplastic anemia and 5 cases of other blood dyscrasias, eg, red blood cell aplasia and thrombocytopenia, associated with lindane, have been reported in the literature. However, aplastic anemia secondary to the scabicidal product (lindane [Kwell]) has not been documented, to our knowledge. We present the case of a 21-year-old man with a diagnosis of aplastic anemia, known prolonged exposure to lindane, and documented elevated serum lindane levels. His clinical course is described as well as various defects are explored for the aplasia. PMID:1700687
Rauch, A E; Kowalsky, S F; Lesar, T S; Sauerbier, G A; Burkart, P T; Scharfman, W B
Management of anemia in children receiving chronic peritoneal dialysis.
Little information exists regarding the efficacy, modifiers, and outcomes of anemia management in children with CKD or ESRD. We assessed practices, effectors, and outcomes of anemia management in 1394 pediatric patients undergoing peritoneal dialysis (PD) who were prospectively followed in 30 countries. We noted that 25% of patients had hemoglobin levels below target (<10 g/dl or <9.5 g/dl in children older or younger than 2 years, respectively), with significant regional variation; levels were highest in North America and Europe and lowest in Asia and Turkey. Low hemoglobin levels were associated with low urine output, low serum albumin, high parathyroid hormone, high ferritin, and the use of bioincompatible PD fluid. Erythropoiesis-stimulating agents (ESAs) were prescribed to 92% of patients, and neither the type of ESA nor the dosing interval appeared to affect efficacy. The weekly ESA dose inversely correlated with age when scaled to weight but did not correlate with age when normalized to body surface area. ESA sensitivity was positively associated with residual diuresis and serum albumin and inversely associated with serum parathyroid hormone and ferritin. The prevalence of hypertension and left ventricular hypertrophy increased with the degree of anemia. Patient survival was positively associated with achieved hemoglobin and serum albumin and was inversely associated with ESA dose. In conclusion, control of anemia in children receiving long-term PD varies by region. ESA requirements are independent of age when dose is scaled to body surface area, and ESA resistance is associated with inflammation, fluid retention, and hyperparathyroidism. Anemia and high ESA dose requirements independently predict mortality. PMID:23471197
Borzych-Duzalka, Dagmara; Bilginer, Yelda; Ha, Il Soo; Bak, Mustafa; Rees, Lesley; Cano, Francisco; Munarriz, Reyner Loza; Chua, Annabelle; Pesle, Silvia; Emre, Sevinc; Urzykowska, Agnieszka; Quiroz, Lily; Ruscasso, Javier Dar�o; White, Colin; Pape, Lars; Ramela, Virginia; Printza, Nikoleta; Vogel, Andrea; Kuzmanovska, Dafina; Simkova, Eva; M�ller-Wiefel, Dirk E; Sander, Anja; Warady, Bradley A; Schaefer, Franz
Management of Anemia in Children Receiving Chronic Peritoneal Dialysis
Little information exists regarding the efficacy, modifiers, and outcomes of anemia management in children with CKD or ESRD. We assessed practices, effectors, and outcomes of anemia management in 1394 pediatric patients undergoing peritoneal dialysis (PD) who were prospectively followed in 30 countries. We noted that 25% of patients had hemoglobin levels below target (<10 g/dl or <9.5 g/dl in children older or younger than 2 years, respectively), with significant regional variation; levels were highest in North America and Europe and lowest in Asia and Turkey. Low hemoglobin levels were associated with low urine output, low serum albumin, high parathyroid hormone, high ferritin, and the use of bioincompatible PD fluid. Erythropoiesis-stimulating agents (ESAs) were prescribed to 92% of patients, and neither the type of ESA nor the dosing interval appeared to affect efficacy. The weekly ESA dose inversely correlated with age when scaled to weight but did not correlate with age when normalized to body surface area. ESA sensitivity was positively associated with residual diuresis and serum albumin and inversely associated with serum parathyroid hormone and ferritin. The prevalence of hypertension and left ventricular hypertrophy increased with the degree of anemia. Patient survival was positively associated with achieved hemoglobin and serum albumin and was inversely associated with ESA dose. In conclusion, control of anemia in children receiving long-term PD varies by region. ESA requirements are independent of age when dose is scaled to body surface area, and ESA resistance is associated with inflammation, fluid retention, and hyperparathyroidism. Anemia and high ESA dose requirements independently predict mortality.
Borzych-Duzalka, Dagmara; Bilginer, Yelda; Ha, Il Soo; Bak, Mustafa; Rees, Lesley; Cano, Francisco; Munarriz, Reyner Loza; Chua, Annabelle; Pesle, Silvia; Emre, Sevinc; Urzykowska, Agnieszka; Quiroz, Lily; Ruscasso, Javier Dario; White, Colin; Pape, Lars; Ramela, Virginia; Printza, Nikoleta; Vogel, Andrea; Kuzmanovska, Dafina; Simkova, Eva; Muller-Wiefel, Dirk E.; Sander, Anja; Warady, Bradley A.
Pathology Case Study: Macrocytic Anemia
NSDL National Science Digital Library
This is a case study presented by the University of Pittsburgh Department of Pathology in which an older man suffering from chronic bronchitis and macrocytic anemia also developed persistent flu symptoms. Visitors view the microscopic and gross descriptions, including images, and have the opportunity to diagnose the patient. This is an excellent resource for students in the health sciences to familiarize themselves with using patient history and laboratory results to diagnose disease. It is also a helpful site for educators to use to introduce or test student learning in hematopathology.
Bahler, David; Kulich, Scott; Shekhter-Levin, Sofia
The Student with Sickle Cell Anemia.
ERIC Educational Resources Information Center
Sickle cell anemia is the most common and severe of inherited chronic blood disorders. In the United States, sickle cell anemia is most common among the Black population. Among the most commonly occurring symptoms are: an enlarged spleen, episodes of severe pain, easily contracted infections, skin ulcers, and frequent urination. (JN)
Tetrault, Sylvia M.
Code of Federal Regulations, 2010 CFR
...Animal Products 2 2010-01-01 2010-01-01 false Anemia. 311.34 Section 311.34 Animals and Animal Products...DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.34 Anemia. Carcasses of livestock too anemic to produce wholesome...
Code of Federal Regulations, 2010 CFR
...Animal Products 2 2009-01-01 2009-01-01 false Anemia. 311.34 Section 311.34 Animals and Animal Products...DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.34 Anemia. Carcasses of livestock too anemic to produce wholesome...
Homozygosity mapping of Fanconi anemia
Fanconi anemia (FA) is a rare, recessive, genetically heterogeneous disease characterized by progressive insufficiency of the bone marrow and increased cellular sensitivity to DNA crosslinking agents. Complementation tests among different FA cells have indicated the presence of at least 4 FA-causing genes. One of the genes, FACC, was identified by functional complementation but appears unlikely to account for many phenotypically indistinguishable FA caes. We have begun a linkage study of FA using {open_quotes}homozygosity mapping{close_quotes}, a method that involves genotyping with DNA markers on affected individuals whose parents are related. Because FA is a rare recessive disease, it is most likely that probands are homozygous by descent at the disease locus and, therefore, at nearby DNA markers. Although the probability that any given marker will be homozygous in an inbred individual is high, given markers with moderate heterozygosities, the chance that two unrelated inbred individuals will be homozygous at the same marker is considerably lower. By locating overlapping regions of homozygosity between different families we hope to identify genes that cause FA. Sixteen consanguineous non-FACC FA families from the International Fanconi Anemia Registry at Rockefeller University are under study. An efficient algorithm for data analysis was developed and incorporated into software that can quickly compute exact multipoint lod scores using all markers on an entire chromosome. At the time of this writing, 171 of 229 microsatellite markers spaced at 20 cM intervals across the genome have been analyzed.
Gschwend, M.; Botstein, D. [Stanford Univ., CA (United States); Kruglyak, L. [Whitehead Institute, Cambridge, MA (United States)] [and others
Effects of ionizing radiation on cells from Fanconi's anemia patients
The lymphocytes from some Fanconi's anemia patients appeared to be more radiosensitive than normal as measured by the number of X-ray-(or bleomycin-) induced chromosome aberrations seen following G2 treatment. Fibroblasts from the same patients, however, all showed the same degree of colony survival as normals following exposure to gamma-rays (Do, 1.13 +/- 0.072 (S.E.) Gy and 1.14 +/- 0.077 Gy for Fanconi's anemia and normal fibroblasts, respectively). The lack of increased radiosensitivity in Fanconi's fibroblasts was also observed by the same degree of inhibition of DNA synthesis as seen in normals following gamma-irradiation. The results show clearly that there is no increase in radiosensitivity common to all cell types from Fanconi's patients, although an apparent increase in chromosomal radiosensitivity may be seen in the lymphocytes from an occasional patient.
Duckworth-Rysiecki, G.; Taylor, A.M.
... treatments are injections of EPO and blood transfusions. EPO (erythropoietin) stimulates the production of red blood cells. In 1985, scientists learned how to make synthetic EPO. It is injected under the skin, usually once ...
American Society of Hematology ASH Store ASH Job Center Donate My Account Search Show Main Menu + About Awards Membership ASH Foundation Global Programs ... Research Programs and Awards Research Recommendations Agenda for Hematology Research View all Blood Current Issue First Edition ...
... body gets more iron than it needs? Iron overload happens when too much iron builds up in ... heart, and pancreas. Many problems can cause iron overload. Most people with hemochromatosis inherit it from their ...
Anemia: An early complication of chronic renal insufficiency
The strong association between anemia and cardiovascular complications among patients with end-stage renal disease suggests that anemia during chronic renal insufficiency (CRI) may also have important consequences. We performed a retrospective cohort study to identify factors associated with severe anemia (hematocrit [lsqb ]Hct[rsqb ] [lt ] 30%) and examine anemia management practices in CRI. The CRI cohort was composed of
Waqar H. Kazmi; Annamaria T. Kausz; Samina Khan; Rekha Abichandani; Robin Ruthazer; Gregorio T. Obrador; Brian J. G. Pereira
Relationship of maternal knowledge of anemia with maternal and child anemia and health-related behaviors targeted at anemia among families in Indonesia
Objectives Our specific aim was to characterize maternal knowledge of anemia and its relationship to maternal and child anemia and to behaviors related to anemia reduction. Methods We examined the relationship between maternal knowledge of anemia and anemia in the mother and the youngest child, aged 6�59 mo, in 7,913 families from urban slums and 37,874 families from rural areas of Indonesia. Knowledge of anemia was defined based upon the mother�s ability to correctly name at least one symptom of anemia and at least one treatment or strategy for reducing anemia. Hemoglobin was measured in both the mother and the child. Results In urban and rural areas, respectively, 35.8% and 36.9% of mothers had knowledge of anemia, 28.7% and 25.1% of mothers were anemic (hemoglobin <12 g/dL), and 62.3% and 54.0% of children were anemic (hemoglobin <11 g/dL). Maternal knowledge of anemia was associated with child anemia in urban and rural areas, respectively, (Odds Ratio [O.R.] 0.90, 95% Confidence Interval [C.I.] 0.79, 1.02, P = 0.10; O.R. 0.93, 95% C.I. 0.87, 0.98, P = 0.01) in multivariate logistic regression models adjusting for potential confounders. There was no significant association between maternal knowledge of anemia and maternal anemia. Maternal knowledge of anemia was significantly associated with iron supplementation during pregnancy and child consumption of fortified milk. There was no association of maternal knowledge of anemia with child deworming. Conclusions Maternal knowledge of anemia is associated with lower odds of anemia in children and with some health behaviors related to reducing anemia.
Souganidis, Ellie S.; Sun, Kai; de Pee, Saskia; Kraemer, Klaus; Rah, Jee-Hyun; Moench-Pfanner, Regina; Sari, Mayang; Bloem, Martin W.; Semba, Richard D.
Inhibition of bone morphogenetic protein signaling attenuates anemia associated with inflammation
Anemia of inflammation develops in settings of chronic inflammatory, infectious, or neoplastic disease. In this highly prevalent form of anemia, inflammatory cytokines, including IL-6, stimulate hepatic expression of hepcidin, which negatively regulates iron bioavailability by inactivating ferroportin. Hepcidin is transcriptionally regulated by IL-6 and bone morphogenetic protein (BMP) signaling. We hypothesized that inhibiting BMP signaling can reduce hepcidin expression and ameliorate hypoferremia and anemia associated with inflammation. In human hepatoma cells, IL-6�induced hepcidin expression, an effect that was inhibited by treatment with a BMP type I receptor inhibitor, LDN-193189, or BMP ligand antagonists noggin and ALK3-Fc. In zebrafish, the induction of hepcidin expression by transgenic expression of IL-6 was also reduced by LDN-193189. In mice, treatment with IL-6 or turpentine increased hepcidin expression and reduced serum iron, effects that were inhibited by LDN-193189 or ALK3-Fc. Chronic turpentine treatment led to microcytic anemia, which was prevented by concurrent administration of LDN-193189 or attenuated when LDN-193189 was administered after anemia was established. Our studies support the concept that BMP and IL-6 act together to regulate iron homeostasis and suggest that inhibition of BMP signaling may be an effective strategy for the treatment of anemia of inflammation.
Steinbicker, Andrea U.; Sachidanandan, Chetana; Vonner, Ashley J.; Yusuf, Rushdia Z.; Deng, Donna Y.; Lai, Carol S.; Rauwerdink, Kristen M.; Winn, Julia C.; Saez, Borja; Cook, Colleen M.; Szekely, Brian A.; Roy, Cindy N.; Seehra, Jasbir S.; Cuny, Gregory D.; Scadden, David T.; Peterson, Randall T.; Bloch, Kenneth D.
Mean hemoglobin levels in venous blood samples and prevalence of anemia in Japanese elementary and junior high school students.
Screening for anemia has been performed in schools in Japan for over 30 years. The long-term effect of the nuclear power plant disaster on the prevalence of anemia in school age children is unknown. This research was performed to evaluate the prevalence of anemia in school age children and to determine grade-level and gender-related reference hemoglobin (Hb) levels prior to the nuclear disaster. Data for this research were obtained from results of screening for anemia obtained by venous blood sampling in schools in 2002. Mean Hb levels were calculated for each grade level (elementary school grades 1-6 and junior high school years 1-3) and according to gender, and the prevalence of anemia was determined. In our research, Tokyo Health Service Association guidelines were used to determine reference Hb levels for anemia. We demonstrated that Hb levels in boys increased with age during childhood and adolescence (from 13.1 � 0.7 g/dL in 7 year olds to 14.9 � 1.1 g/dL in 15 year olds); in girls, Hb levels peaked at menarche (13.7 � 0.8 g/dL in 12 year olds), decreasing slightly thereafter (13.4 � 1.1 g/dL in 15 year olds). The prevalence of anemia was 0.26% in elementary school boys, 0.27% in elementary school girls, and 1.21% in junior high school boys. The prevalence of anemia in second- and third-year junior high school girls was lower than that in first-year junior high school girls. Among all junior high school girls, 5.73% had mild anemia. Iron-deficiency anemia is the commonest type of anemia in high school girls, secondary to the relative lack of iron due to menstruation, the growth spurt and exercise. Appropriate dietary therapy and treatment of anemia, together with education about the dietary prevention of anemia, are important to reduce the prevalence of anemia in high school students. When complete blood counts are performed in regions thought to be affected by the Fukushima nuclear power plant disaster, our report can serve as a reference during evaluation of Hb levels. PMID:22791127
Igarashi, Toru; Itoh, Yasuhiko; Maeda, Miho; Igarashi, Tsutomu; Fukunaga, Yoshitaka
[Comparison of bone marrow and blood cell morphology between refractory anemia and other anemia disease].
This study was purposed to investigate the cell morphological features of bone marrow and peripheral blood in patients with myelodysplastic syndrome, mainly with refractory anemia, and to compare them with other anemia diseases including chronic aplastic anemia, hemolytic anemia and megaloblastic anemia. The bone marrow and peripheral blood were taken from patients for preparing the smears with Wright staining. 500 karyocytes in bone marrow and 100 karyocytes in peripheral blood were detected, and the features of morbid cells of erythrocyte, granulocyte and megakaryocytic series were observed. The results showed that differences between refractory anemia, chronic aplastic anemias and hemolytic anemia as well as megaloblastic anemia were statistically significant (P < 0.05) in the granules scarce and absence in the intracytoplasm of segmented neutrocyte in peripheral blood, Pelger dyskaryosis, the numbers and detected rate of immature granulocytes, monocyte detected rate, the granules scarce in all stage of granulocytic series in bone marrow, odd number and prolification of nucleolus in erythrocytic series, little macronucleus and single circle nucleus macronucleus. It is concluded that cell morphology is the foundation of diagnosing the MDS, the abnormality morphology both in peripheral blood and bone marrow play the consequence role in the diagnosis of MDS. PMID:23257446
Cheng, Hong; Jiang, Ming; DU, Wei; Zhong, Di; Hao, Jian-Ping; Li, Ling
Clinical pallor is useful to detect severe anemia in populations where anemia is prevalent and severe.
Clinical pallor is recommended as a simple way to detect severe anemia, but more data are needed on its accuracy and usefulness when assessed by nonphysicians in diverse settings. We measured hemoglobin and trained non-physician health workers to assess clinical pallor of the conjunctiva, palm and nail beds in five population samples in Nepal and Zanzibar, where severe anemia is common. In total, 5,760 individuals were examined, 3,072 of whom were anemic and 192 of whom had severe anemia (hemoglobin <70 g/L). The prevalence of pallor did not correspond to the prevalence of anemia or severe anemia in the groups studied. However, in all studies, pallor at each anatomical site was associated with a significantly lower hemoglobin concentration. The relative performance of different anatomical sites was not consistent among studies, and we recommend that multiple sites be assessed. Pallor at any of the three sites detected severe anemia with >84% specificity. However, the sensitivity varied from 81% in Nepalese postpartum women to 29% in Zanzibari preschoolers in 1996. Overall estimates for sensitivity and specificity were 50 and 92%, respectively. Although imperfect, use of pallor to screen and treat severe anemia by primary care providers is feasible and worthwhile where severe anemia is common. Usually, the majority of persons with severe anemia will be detected at practically no cost. Many people who are not severely anemic will also receive treatment, but the costs of this error are low compared to the benefits. PMID:10460203
Stoltzfus, R J; Edward-Raj, A; Dreyfuss, M L; Albonico, M; Montresor, A; Dhoj Thapa, M; West, K P; Chwaya, H M; Savioli, L; Tielsch, J
Congenital dyserthropoietic anaemia other than type I to III with a peculiar erythroblastic morphology.
Here, we report the case of a child who, since birth, showed persistent macrocytosis and elevated mean corpuscular volume of the erythrocytes. Bone marrow biopsy revealed gross disorganisation of the erythroblastic series both at the light and electron microscopic examination, with complete absence of dysplastic features in the granulocytic and megakaryocytic series. Common causes of macrocytosis were excluded. The spectrum of morphological findings were not consistent with any of the classical types of congenital dyserythropoietic anaemias (CDAs) and serological findings of CDA type II were absent. The most outstanding feature was a marked irregularity of the nuclear outline of the late erythroblasts that presented thick-ending finger-like projections. The combination of macrocytosis without anaemia and these morphologic erythroblastic changes have not been previously reported in the setting of classical and variant forms of CDAs. PMID:12930323
Woessner, S; Trujillo, M; Florensa, L; Mesa, M C; Wickramasinghe, S N
Sickle Cell Anemia. A Bibliography with Abstracts.
National Technical Information Service (NTIS)
The NTISearch bibliography contains 29 selected abstracts of research reports retrieved using the NTIS on-line search system--NTISearch. The abstracts cover the clinical and diagnostic aspects of sickle cell anemia. (Author)
E. A. Harrison
Hypogonadism and anemia in an athlete.
We report the case of a highly trained endurance athlete (22-year-old) who developed anemia (Hb 9.5?mg/dl) over a period of 6 months. Iron deficient or haemolytic anemia, as well as chronic loss of blood, were excluded. Further, laboratory analyses revealed that this athlete exhibited very low levels of testosterone due to a partial hypogonadotropic hypogonadism. Following testosterone supplementation, red blood cell indices improved. Although hypogonadotropic hypogonadism is well known to be associated with reduced hematopoesis, it rarely causes anemia in athletes. This should be considered as a possible cause for anemia. Extreme training, unbalanced nutrition or the combination of both, have been shown to be causally involved in the development of secondary hypogonadotropic hypogonadism. PMID:22095327
Korsten-Reck, U; Seufert, J; Dickhuth, H-H; Schumacher, Y O; K�nig, D
Avoiding Anemia: Boost Your Red Blood Cells
... our exit disclaimer . Subscribe Avoiding Anemia Boost Your Red Blood Cells If you�re feeling constantly exhausted ... when your body doesn�t have enough healthy red blood cells. You may either have too few ...
Cytogenetic differentiation of Fanconi anemia, "idiopathic" aplastic anemia, and Fanconi anemia heterozygotes.
We have analyzed chromosome breaks in 8 patients with Fanconi anemia (FA), 42 with "idiopathic" aplastic anema (AA), 15 first-degree relatives of FA patients, and 13 controls. Their lymphocytes were treated in culture with three concentrations of mitomycin-C (MMC). A 60-fold increase in breaks was observed in FA patients as compared to AA patients, regardless of severity of clinical signs. The MMC-stress test was standardized to clearly differentiate FA from other pancytopenias in doubtful cases. Also, the effect of storage of MMC in solution was investigated. The data on SCEs of 12 subjects tested, 10 mo apart, showed an inverse relationship between length of storage of MMC and chromosome damage. The 10-month-old solution induced only one half as many SCEs as it induced at 4 months. Further, the usefulness and power of diepoxybutane (DEB) in detection of FA heterozygotes was investigated in 12 first-degree relatives of patients with Fanconi anemia and 12 healthy controls. The mean number of chromosome breaks per mitosis by DEB stress in obligate heterozygotes was 0.08 in comparison to 0.06 in controls. Four of twelve control subjects showed proportions of breaks almost identical to or higher than those of FA heterozygotes, ie, 0.12, 0.10, 0.10, and 0.11 breaks per mitosis. The responses of healthy controls to DEB could be separated into two groups: one with mean chromosome breaks of 0.11 per mitosis, and a second with mean breaks of 0.04 per mitosis. Thus, it appears that heterozygote detection by DEB stress of cultured lymphocytes is not unequivocal. PMID:6410915
Cervenka, J; Hirsch, B A
Mechanisms of hemolytic anemia during experimental methemoglobinemias.
A complex study of the peripheral erythron component was performed during methemoglobinemias induced by single administration of sodium nitrate and phenylhydrazine in LD50. Administration of methemoglobin-forming agents to rats induced the development of hemolytic anemia. The pathogenesis of this disorder included significant long-term modifications of the erythrocyte membrane. The severity and duration of anemia syndrome depended on chemical structure of xenobiotics, blood methemoglobin level, and the duration of the acute period of methemoglobinemia. PMID:17415463
Novitskii, V V; Ryazantseva, N V; Shperling, I A; Filippova, O N; Rogov, O A
Mitochondrial iron metabolism and sideroblastic anemia.
Sideroblastic anemias are a heterogeneous group of disorders, characterized by mitochondrial iron overload in developing red blood cells. The unifying characteristic of all sideroblastic anemias is the ring sideroblast, which is a pathological erythroid precursor containing excessive deposits of non-heme iron in mitochondria with perinuclear distribution creating a ring appearance. Sideroblastic anemias may be hereditary or acquired. Hereditary sideroblastic anemias are caused by defects in genes present on the X chromosome (mutations in the ALAS2, ABCB7, or GRLX5 gene), genes on autosomal chromosomes, or mitochondrial genes. Acquired sideroblastic anemias are either primary (refractory anemia with ring sideroblasts, RARS, representing one subtype of the myelodysplastic syndrome) or secondary due to some drugs, toxins, copper deficiency, or chronic neoplastic disease. The pathogenesis of mitochondrial iron loading in developing erythroblasts is diverse. Ring sideroblasts can develop as a result of a heme synthesis defect in erythroblasts (ALAS2 mutations), a defect in iron-sulfur cluster assembly, iron-sulfur protein precursor release from mitochondria (ABCB7 mutations), or by a defect in intracellular iron metabolism in erythroid cells (e.g. RARS). PMID:19907149
Sheftel, Alex D; Richardson, Des R; Prchal, Josef; Ponka, Prem
Family structure and child anemia in Mexico.
Utilizing longitudinal data from the nationally-representative Mexico Family Life Survey, this study assesses the association between family structure and iron-deficient anemia among children ages 3-12 in Mexico. The longitudinal models (n�=�4649), which control for baseline anemia status and allow for consideration of family structure transitions, suggest that children living in stable-cohabiting and single-mother families and those who have recently experienced a parental union dissolution have higher odds of anemia than those in stable-married, father-present family structures. Interaction effects indicate that unmarried family contexts have stronger associations with anemia in older children (over age five); and, that the negative effects of parental union dissolution are exacerbated in poorer households. Resident maternal grandparents have a significant beneficial effect on child anemia independent of parental family structure. These results highlight the importance of family structure for child micronutrient deficiencies and suggest that understanding social processes within households may be critical to preventing child anemia in Mexico. PMID:23294876
Schmeer, Kammi K
Mouse Models of Anemia of Cancer
Anemia of cancer (AC) may contribute to cancer-related fatigue and impair quality of life. Improved understanding of the pathogenesis of AC could facilitate better treatment, but animal models to study AC are lacking. We characterized four syngeneic C57BL/6 mouse cancers that cause AC. Mice with two different rapidly-growing metastatic lung cancers developed the characteristic findings of anemia of inflammation (AI), with dramatically different degrees of anemia. Mice with rapidly-growing metastatic melanoma also developed a severe anemia by 14 days, with hematologic and inflammatory parameters similar to AI. Mice with a slow-growing peritoneal ovarian cancer developed an iron-deficiency anemia, likely secondary to chronically impaired nutrition and bleeding into the peritoneal cavity. Of the four models, hepcidin mRNA levels were increased only in the milder lung cancer model. Unlike in our model of systemic inflammation induced by heat-killed Brucella abortus, ablation of hepcidin in the ovarian cancer and the milder lung cancer mouse models did not affect the severity of anemia. Hepcidin-independent mechanisms play an important role in these murine models of AC.
Kim, Airie; Rivera, Seth; Shprung, Dana; Limbrick, Donald; Gabayan, Victoria; Nemeth, Elizabeta; Ganz, Tomas
Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney.
Pyruvate kinase (PK) deficiency is the commonest enzyme deficiency in the glycolytic pathway leading to hemolytic anemia secondary to decreased Adenosine Triphosphate (ATP) synthesis in the red cells. synthesis. PK deficiency due to mutations in the PKLR (1q21) gene leads to highly variable clinical presentation ranging from severe fetal anemia to well compensated anemia in adults. We describe dyserythropoiesis in the bone marrow of a child with transfusion dependent anemia and unilateral multicystic dysplastic kidney (MCDK) mimicking Congenital Dyserythropoietic Anemia type I (CDA type I). Persistently low erythrocyte PK levels and double heterozygous mutations present in the PKLR gene confirmed the diagnosis of PK deficiency. Pediatr Blood Cancer 2014; 61:1463-1465. � 2014 Wiley Periodicals, Inc. PMID:24481986
Haija, Marwa Abu El; Qian, You-Wen; Muthukumar, Akila
Transforming growth factor-? superfamily ligand trap ACE-536 corrects anemia by promoting late-stage erythropoiesis.
Erythropoietin (EPO) stimulates proliferation of early-stage erythrocyte precursors and is widely used for the treatment of chronic anemia. However, several types of EPO-resistant anemia are characterized by defects in late-stage erythropoiesis, which is EPO independent. Here we investigated regulation of erythropoiesis using a ligand-trapping fusion protein (ACE-536) containing the extracellular domain of human activin receptor type IIB (ActRIIB) modified to reduce activin binding. ACE-536, or its mouse version RAP-536, produced rapid and robust increases in erythrocyte numbers in multiple species under basal conditions and reduced or prevented anemia in murine models. Unlike EPO, RAP-536 promoted maturation of late-stage erythroid precursors in vivo. Cotreatment with ACE-536 and EPO produced a synergistic erythropoietic response. ACE-536 bound growth differentiation factor-11 (GDF11) and potently inhibited GDF11-mediated Smad2/3 signaling. GDF11 inhibited erythroid maturation in mice in vivo and ex vivo. Expression of GDF11 and ActRIIB in erythroid precursors decreased progressively with maturation, suggesting an inhibitory role for GDF11 in late-stage erythroid differentiation. RAP-536 treatment also reduced Smad2/3 activation, anemia, erythroid hyperplasia and ineffective erythropoiesis in a mouse model of myelodysplastic syndromes (MDS). These findings implicate transforming growth factor-? (TGF-?) superfamily signaling in erythroid maturation and identify ACE-536 as a new potential treatment for anemia, including that caused by ineffective erythropoiesis. PMID:24658078
Suragani, Rajasekhar N V S; Cadena, Samuel M; Cawley, Sharon M; Sako, Dianne; Mitchell, Dianne; Li, Robert; Davies, Monique V; Alexander, Mark J; Devine, Matthew; Loveday, Kenneth S; Underwood, Kathryn W; Grinberg, Asya V; Quisel, John D; Chopra, Rajesh; Pearsall, R Scott; Seehra, Jasbir; Kumar, Ravindra
Normal erythropoiesis but severe polyposis and bleeding anemia in Smad4-deficient mice.
The tumor suppressor Smad4 mediates signaling by the transforming growth factor beta (TGF-beta) superfamily of ligands. Previous studies showed that several TGF-beta family members exert important functions in hematopoiesis. Here, we studied the role of Smad4 in adult murine hematopoiesis using the inducible Mx-Cre/loxP system. Mice with homozygous Smad4 deletion (Smad4(Delta/Delta)) developed severe anemia 6 to 8 weeks after induction (mean hemoglobin level 70 g/L). The anemia was not transplantable, as wild-type mice reconstituted with Smad4(Delta/Delta) bone marrow cells had normal peripheral blood counts. These mice did not develop an inflammatory disease typical for mice deficient in TGF-beta receptors I and II, suggesting that the suppression of inflammation by TGF-beta is Smad4 independent. The same results were obtained when Smad4 alleles were deleted selectively in hematopoietic cells using the VavCre transgenic mice. In contrast, lethally irradiated Smad4(Delta/Delta) mice that received wild-type bone marrow cells developed anemia similar to Smad4(Delta/Delta) mice that did not receive a transplant. Liver iron stores were decreased and blood was present in stool, indicating that the anemia was due to blood loss. Multiple polyps in stomach and colon represent a likely source of the bleeding. We conclude that Smad4 is not required for adult erythropoiesis and that anemia is solely the consequence of blood loss. PMID:17638848
Pan, Dejing; Schomber, Tibor; Kalberer, Christian P; Terracciano, Luigi M; Hafen, Katrin; Krenger, Werner; Hao-Shen, Hui; Deng, Chuxia; Skoda, Radek C
Anemia, tumor hypoxemia, and the cancer patient
Purpose: To review the impact of anemia/tumor hypoxemia on the quality of life and survival in cancer patients, and to assess the problems associated with the correction of this difficulty. Methods: MEDLINE searches were performed to find relevant literature regarding anemia and/or tumor hypoxia in cancer patients. Articles were evaluated in order to assess the epidemiology, adverse patient effects, anemia correction guidelines, and mechanisms of hypoxia-induced cancer cell growth and/or therapeutic resistance. Past and current clinical studies of radiosensitization via tumor oxygenation/hypoxic cell sensitization were reviewed. All clinical studies using multi-variate analysis were analyzed to show whether or not anemia and/or tumor hypoxemia affected tumor control and patient survival. Articles dealing with the correction of anemia via transfusion and/or erythropoietin were reviewed in order to show the impact of the rectification on the quality of life and survival of cancer patients. Results: Approximately 40-64% of patients presenting for cancer therapy are anemic. The rate of anemia rises with the use of chemotherapy, radiotherapy, and hormonal therapy for prostate cancer. Anemia is associated with reductions both in quality of life and survival. Tumor hypoxemia has been hypothesized to lead to tumor growth and resistance to therapy because it leads to angiogenesis, genetic mutations, resistance to apoptosis, and a resistance to free radicals from chemotherapy and radiotherapy. Nineteen clinical studies of anemia and eight clinical studies of tumor hypoxemia were found that used multi-variate analysis to determine the effect of these conditions on the local control and/or survival of cancer patients. Despite differing definitions of anemia and hypoxemia, all studies have shown a correlation between low hemoglobin levels and/or higher amounts of tumor hypoxia with poorer prognosis. Radiosensitization through improvements in tumor oxygenation/hypoxic cell sensitization has met with limited success via the use of hyperbaric oxygen, electron-affinic radiosensitizers, and mitomycin. Improvements in tumor oxygenation via the use of carbogen and nicotinamide, RSR13, and tirapazamine have shown promising clinical results and are all currently being tested in Phase III trials. The National Comprehensive Cancer Network (NCCN) guidelines recommend transfusion or erythropoietin for symptomatic patients with a hemoglobin of 10-11 g/dl and state that erythropoietin should strongly be considered if hemoglobin falls to less than 10 g/dl. These recommendations were based on studies that revealed an improvement in the quality of life of cancer patients, but not patient survival with anemia correction. Phase III studies evaluating the correction of anemia via erythropoietin have shown mixed results with some studies reporting a decrease in patient survival despite an improvement in hemoglobin levels. Diverse functions of erythropoietin are reviewed, including its potential to inhibit apoptosis via the JAK2/STAT5/BCL-X pathway. Correction of anemia by the use of blood transfusions has also shown a decrement in patient survival, possibly through inflammatory and/or immunosuppressive pathways. Conclusions: Anemia is a prevalent condition associated with cancer and its therapies. Proper Phase III trials are necessary to find the best way to correct anemia for specific patients. Future studies of erythropoietin must evaluate the possible anti-apoptotic effects by directly assessing the tumor for erythropoietin receptors or the presence of the JAK2/STAT5/BCL-X pathway. Due to the ability of transfusions to cause immunosuppression, most probably through inflammatory pathways, it may be best to study the effects of transfusion with the prolonged use of anti-inflammatory medications.
Varlotto, John [Department of Radiation Oncology, Boston VA Medical Center, Boston, MA (United States) and Department of Radiation Oncology, Beth (Israel) and Deaconess Medical Center, Harvard Medical School, Boston, MA (United States)]. E-mail: email@example.com; Stevenson, Mary Ann [Department of Radiation Oncology, Boston VA Medical Center, Boston, MA (United States); Department of Radiation Oncology, Beth Israel/Deaconess Medical Center, Harvard Medical School, Boston, MA (United States)
Zopiclone induced methemoglobinemia and hemolytic anemia.
Objective: To characterize the risk of methemoglobinemia and hemolytic anemia following large overdoses of zopiclone, a cyclopyrrolone hypnotic-sedative and a racemic mixture of R-zopiclone and S-zopiclone (eszopiclone). Methods: This review included all reports of zopiclone induced methemoglobinemia, hemolytic anemia, and oxidative stress that had been published in medical journals or discussed in continuous medical education (CME) programs. These reports were identified by searching the Medline (1980 - December 9, 2013), China Journal Net (1994 - December 2013), and Google Scholar, using zopiclone, eszopiclone, methemoglobinemia, hemolytic anemia, and oxidative stress as the search terms. Results: Six cases of methemoglobinemia, one case of methemoglobinemia, with concomitant hemolytic anemia, and one case of hemolytic anemia were identified. These complications occurred after large zopiclone overdoses (450 - 3,750, 1,125 - 1,500, and 375 - 750 mg, respectively, i.e., 60 - 500, 150 - 200, and 50 - 100 times the daily dose of 7.5 mg). The resulting methemoglobinemia could be severe (19.4 - 24.5%), while the hemolytic anemia was mild (Hb 9.0 - 9.6 g/dL). Molecular modelling analyses indicate that eszopiclone and its two metabolites will be kinetically labile. Their molecular surfaces have significant amounts of electron-deficient regions. All three compounds are expected to react with cellular nucleophiles, such as glutathione, causing its depletion and oxidative stress. Conclusions: After large overdoses, zopiclone, alone or together with its metabolites, most probably causes oxidative stress in erythrocytes to account for the methemoglobinemia and hemolytic anemia. Further studies are required to determine their incidence and the dose-related capacity of zopiclone and its metabolites in producing erythrocyte oxidative stress. PMID:24569128
Chan, Thomas Y K
Iron deficiency anemia among kindergarten children living in the marginalized areas of Gaza Strip, Palestine
Background: iron deficiency anemia is the most common type of nutritional anemia; it has been recognized as an important health problem in Palestine. This study was conducted to estimate the prevalence and to identify possible risk factors of iron deficiency anemia among kindergarten children living in the marginalized areas of the Gaza Strip and to evaluate the effectiveness of supplementing oral iron formula in the anemic children. Methods: the study included 735 (384 male and 351 female) kindergarten children. Data was collected by questionnaire interviews, anthropometric measurements, and complete blood count analysis. All iron deficient anemic children were treated using an oral iron formula (50 mg ferrous carbonate + 100 mg vitamin C /5 mL) and the complete blood count was reassessed after three months. A univariate analysis and a multiple logistic regression model were constructed; crude and adjusted odds ratios (OR), and 95% confidence intervals (95% CI) were calculated. Results: the overall prevalence of iron deficiency anemia was 33.5% with no significant differences between boys and girls. Significantly different prevalences of iron deficiency anemia were reported between different governorates of the Gaza Strip. Governorate, low education level of the parents and smoking are significant risk factors for children developing anemia. Significantly lower complete blood count parameters, except for WBC, were reported in anemic children. The oral iron treatment significantly improved hemoglobin concentrations, and normalized the iron deficiency marker. Conclusions: iron deficiency anemia is a serious health problem among children living in the marginalized areas of the Gaza Strip, which justifies the necessity for national intervention programs to improve the health status for the less fortunate development areas.
Sirdah, Mahmoud Mohammed; Yaghi, Ayed; Yaghi, Abdallah R.
Standard of care for cancer-related anemia: improving hemoglobin levels and quality of life.
The introduction of recombinant human erythropoietin (rHuEPO) has proven to be a major advance in the therapeutic options available for managing anemia in cancer patients. The results of placebo-controlled clinical trials and large, community-based, open-label studies have confirmed that epoetin alfa, a recombinant human erythropoietin, significantly reduces transfusion requirements, and reliably increases hemoglobin (Hb) levels in anemic (Hb level <12 g/dl) cancer patients undergoing chemotherapy. Increased Hb improves patients' energy level and their ability to perform the activities of daily living, as well as their overall quality of life (QOL). These findings are independent of tumor type and disease status and are comparable in patients receiving nonplatinum- and platinum-based chemotherapeutic regimens. Furthermore, more than a decade of use in clinical trials and by physicians in routine clinical practice has demonstrated that epoetin alfa is safe and well tolerated when used to treat cancer patients with anemia. The availability of epoetin alfa as an alternative to transfusion has changed practices in anemia management; physicians can now treat anemia with the goal of achieving adequate Hb levels to relieve anemia-related fatigue, a major symptom contributing to decreased QOL in cancer patients. Incremental benefit analysis has shown that increasing Hb level from 11 g/dl to 12 g/dl yields the greatest improvement in QOL per 1 g/dl increase in Hb. The demonstrated efficacy of epoetin alfa for increasing Hb levels and improving patient QOL have made this agent a rationale choice for management of cancer-related anemia. Ongoing research will continue to provide new insights into best management of anemia with epoetin alfa in cancer patients. PMID:15855813
Cortesi, Enrico; Gasc�n, Pere; Henry, David; Littlewood, Timothy; Milroy, Robert; Pronzato, Paolo; Reinhardt, Uwe; Shasha, Daniel; Thatcher, Nicholas; Wilkinson, Peter
... How blood transfusions are done Types of transfusions Red blood cell transfusions Red blood cell basics Red blood cells (RBCs) give ... causes the bone marrow to make more. When red blood cell transfusions are used Anemia People who ...
Discovery may help prevent chemotherapy-induced anemia
Cancer chemotherapy can cause peripheral neuropathy�nerve damage often resulting in pain and muscle weakness in the arms and legs. Now, researchers at Albert Einstein College of Medicine of Yeshiva University (home of the Albert Einstein Cancer Center) have discovered that chemo also induces an insidious type of nerve damage inside bone marrow that can cause delays in recovery after bone marrow transplantation. The findings, made in mice and published online today in Nature Medicine, suggest that combining chemotherapy with nerve-protecting agents may prevent long-term bone marrow injury that causes anemia and may improve the success of bone marrow transplants.
Priming of hypoxia-inducible factor by neuronal nitric oxide synthase is essential for adaptive responses to severe anemia.
Cells sense and respond to changes in oxygen concentration through gene regulatory processes that are fundamental to survival. Surprisingly, little is known about how anemia affects hypoxia signaling. Because nitric oxide synthases (NOSs) figure prominently in the cellular responses to acute hypoxia, we defined the effects of NOS deficiency in acute anemia. In contrast to endothelial NOS or inducible NOS deficiency, neuronal NOS (nNOS)(-/-) mice demonstrated increased mortality during anemia. Unlike wild-type (WT) animals, anemia did not increase cardiac output (CO) or reduce systemic vascular resistance (SVR) in nNOS(-/-) mice. At the cellular level, anemia increased expression of HIF-1? protein and HIF-responsive mRNA levels (EPO, VEGF, GLUT1, PDK1) in the brain of WT, but not nNOS(-/-) mice, despite comparable reductions in tissue PO(2). Paradoxically, nNOS(-/-) mice survived longer during hypoxia, retained the ability to regulate CO and SVR, and increased brain HIF-? protein levels and HIF-responsive mRNA transcripts. Real-time imaging of transgenic animals expressing a reporter HIF-?(ODD)-luciferase chimeric protein confirmed that nNOS was essential for anemia-mediated increases in HIF-? protein stability in vivo. S-nitrosylation effects the functional interaction between HIF and pVHL. We found that anemia led to nNOS-dependent S-nitrosylation of pVHL in vivo and, of interest, led to decreased expression of GSNO reductase. These findings identify nNOS effects on the HIF/pVHL signaling pathway as critically important in the physiological responses to anemia in vivo and provide essential mechanistic insight into the differences between anemia and hypoxia. PMID:21976486
Tsui, Albert K Y; Marsden, Philip A; Mazer, C David; Adamson, S Lee; Henkelman, R Mark; Ho, J J David; Wilson, David F; Heximer, Scott P; Connelly, Kim A; Bolz, Steffen-Sebastian; Lidington, Darcy; El-Beheiry, Mostafa H; Dattani, Neil D; Chen, Kevin M; Hare, Gregory M T
Reticulocyte maturity indices in iron deficiency anemia
Objective The aim of this study was to analyze the reticulocyte maturity indices (low, medium, and high fluorescence ratios) in iron deficient 1- to 6-year-old children, and identify the prevalence of iron deficiency anemia in this population. Methods The present study included 39 subjects, divided into two groups: control subjects (n = 33), and subjects with iron deficiency anemia (n = 6). The results were analyzed by Student's t-test for comparison of means. Differences were considered significant when two-tailed p-value < 0.05. Results Subjects with iron deficiency anemia presented increases in the proportion of mean (10.3 � 4.7% vs. 6.0 � 3.4%; p-value = 0.003), and high fluorescence reticulocytes (2.3 � 0.87% vs. 0.9 � 0.9%; p-value = 0.03) compared to the control group. The prevalence of anemia in this population was 15% (n = 6). Conclusion The indices related to immaturity of reticulocytes are higher in the presence of iron deficiency, thus demonstrating a deficiency in the raw material to form hemoglobin and are, therefore, possible early markers of iron deficiency and anemia. We emphasize the need to standardize these indices for use in clinical practice and lab test results.
Wollmann, Muriel; Gerzson, Branca Maria Cerezer; Schwert, Vanessa; Figuera, Rafael Weber; Ritzel, Guilherme de Oliveira
Congenital midgut volvulus associated with fetal anemia.
Congenital volvulus is a life-threatening condition, both for the fetus and for the newborn. A volvulus is a twist of small bowel loops or a proximal part of the colon around the mesenteric artery or its branches. The potential consequences of volvulus are ileus and necrosis of the intestinal wall. Prenatal diagnosis of midgut volvulus is difficult. It should be suspected antenatally when polyhydramnios, intestinal dilatation, ascites and/or signs of fetal anemia are present on ultrasound assessment. We report a case of a congenital midgut volvulus associated with fetal anemia. The fetal ultrasound performed at 32 weeks' gestation showed a polyhydramnios, hydrothorax, thick ascites accumulation around the liver and the suspicion of a dilated bowel loop. Additionally, Doppler examination showed an increased value of peak systolic velocity in the middle cerebral artery. Cordocentesis confirmed significant fetal anemia. At 34 weeks, because of the suspicion of idiopathic meconium ileus and secondary anemia, a Cesarean section was performed after the administration of steroids. During the laparatomy, performed postnatally, a midgut volvulus was diagnosed. The affected portion of the ileum was resected and end-to-end anastomosis performed. An antenatal diagnosis of midgut volvulus should be considered when signs of fetal anemia, including an increased value of peak systolic velocity in the middle cerebral artery, are present with polyhydramnios, fetal ascites, dilated bowel loops on antenatal ultrasound. An assessment of the fetal hemodynamic status should be a part of the ultrasound assessment for patients with nonspecific fetal bowel pathologies, including congenital volvulus. PMID:20616522
Kornacki, Jakub; Czarnecka, Monika; B?aszczy?ski, Micha?; Skrzypczak, Jana; Gadzinowski, Janusz; Jankowski, Andrzej; Sardesai, Smeeta
Predicting late anemia in critical illness
Introduction Identifying critically ill patients most likely to benefit from pre-emptive therapies will become increasingly important if therapies are to be used safely and cost-effectively. We sought to determine whether a predictive model could be constructed that would serve as a useful decision support tool for the pre-emptive management of intensive care unit (ICU)-related anemia. Methods Our cohort consisted of all ICU patients (n = 5,170) admitted to a large tertiary-care academic medical center during the period from 1 July 2000 to 30 June 2001. We divided the cohort into development (n = 3,619) and validation (n = 1,551) sets. Using a set of demographic and physiologic variables available within six hours of ICU admission, we developed models to predict patients who either received late transfusion or developed late anemia. We then constructed a point system to quantify, within six hours of ICU admission, the likelihood of developing late anemia. Results Models showed good discrimination with receiver operating characteristic curve areas ranging from 0.72 to 0.77, although predicting late transfusion was consistently less accurate than predicting late anemia. A five-item point system predicted likelihood of late anemia as well as existing clinical trial inclusion criteria but resulted in pre-emptive intervention more than two days earlier. Conclusion A rule-based decision support tool using information available within six hours of ICU admission may lead to earlier and more appropriate use of blood-sparing strategies.
Milbrandt, Eric B; Clermont, Gilles; Martinez, Javier; Kersten, Alex; Rahim, Malik T; Angus, Derek C
Anemia and transfusion after subarachnoid hemorrhage.
Delayed cerebral ischemia after subarachnoid hemorrhage (SAH) may be affected by a number of factors, including cerebral blood flow and oxygen delivery. Anemia affects about half of patients with SAH and is associated with worse outcome. Anemia also may contribute to the development of or exacerbate delayed cerebral ischemia. This review was designed to examine the prevalence and impact of anemia in patients with SAH and to evaluate the effects of transfusion. A literature search was made to identify original research on anemia and transfusion in SAH patients. A total of 27 articles were identified that addressed the effects of red blood cell transfusion (RBCT) on brain physiology, anemia in SAH, and clinical management with RBCT or erythropoietin. Most studies provided retrospectively analyzed data of very low-quality according to the GRADE criteria. While RBCT can have beneficial effects on brain physiology, RBCT may be associated with medical complications, infection, vasospasm, and poor outcome after SAH. The effects may vary with disease severity or the presence of vasospasm, but it remains unclear whether RBCTs are a marker of disease severity or a cause of worse outcome. Erythropoietin data are limited. The literature review further suggests that the results of the Transfusion Requirements in Critical Care Trial and subsequent observational studies on RBCT in general critical care do not apply to SAH patients and that randomized trials to address the role of RBCT in SAH are required. PMID:21769459
Le Roux, Peter D
Anemia caused by low iron - infants and toddlers
... fortified) also provides enough iron. Infants younger than 12 months who drink cow's milk rather than breast milk or iron-fortified formula are more likely to have anemia. Cow's milk leads to anemia because it: Has less iron Causes ...
Anemia and Iron Deficiency in Refugee Children from Burma.
National Technical Information Service (NTIS)
Iron-deficiency anemia (IDA) in refugees is reported to be among the major medical problems worldwide. Because food rations are typically inadequate in iwn, long-term reliance is a key predictor of anemia among displaced people. Comprehensive nutritional ...
T. Kemmer S. Hansch K. Wantanee M. Bovill K. L. Beisler
Genetics Home Reference: X-linked sideroblastic anemia and ataxia
... PubMed Recent literature OMIM Genetic disorder catalog Conditions > X-linked sideroblastic anemia and ataxia On this page: ... names Glossary definitions Reviewed April 2009 What is X-linked sideroblastic anemia and ataxia? X-linked sideroblastic ...
Nucleolar stress in Diamond Blackfan anemia pathophysiology.
Diamond Blackfan anemia is a red cell hypoplasia that typically presents within the first year of life. Most cases of Diamond Blackfan anemia are caused by ribosome assembly defects linked to haploinsufficiency for structural proteins of either ribosomal subunit. Nucleolar stress associated with abortive ribosome assembly leads to p53 activation via the interaction of free ribosomal proteins with HDM2, a negative regulator of p53. Significant challenges remain in linking this nucleolar stress signaling pathway to the clinical features of Diamond Blackfan anemia. Defining aspects of disease presentation may relate to developmental and physiological triggers that work in conjunction with nucleolar stress signaling to heighten the p53 response in the developing erythron after birth. The growing number of ribosomopathies provides additional challenges for linking molecular mechanisms with clinical phenotypes. This article is part of a Special Issue entitled: Role of the Nucleolus in Human Disease. PMID:24412987
Ellis, Steven R
Autoimmune Hemolytic Anemia Induced by Levofloxacin
Drug-induced autoimmune hemolytic anemia is a rare condition. We report the case of a 32-year-old white female who presented to the emergency department with generalized fatigue, fever, and jaundice. The patient reported using levofloxacin few days prior to presentation for urinary tract infection. The patient had evidence of hemolytic anemia with a hemoglobin of 6.7?g/dL which dropped to 5?g/dL on day 2, the direct Coombs test was positive, indirect bilirubin was 5.5?mg/dL, and LDH was 1283?IU/L. Further testing ruled out autoimmune disease, lymphoma, and leukemia as etiologies for the patient's hemolytic anemia. Levofloxacin was immediately stopped with a gradual hematologic recovery within few days.
Sheikh-Taha, Marwan; Frenn, Pascale
The factors contributing to anemia in falciparum malaria were characterized in 4,007 prospectively studied patients on the western border of Thailand. Of these, 727 patients (18%) presented with anemia (haematocrit 30%), and 1% (55 of 5,253) required blood transfusion. The following were found to be independent risk factors for anemia at admission: age 5 years, a palpable spleen, a palpable
Rituximab in steroid refractory autoimmune hemolytic anemia.
Autoimmune hemolytic anemia is rare in children and infants and steroids are the corner stone of therapy. Management of the patients with steroid refractory/dependent disease is difficult .Rituximab is being used in the treatment of a variety of autoimmune diseases including Autoimmune hemolytic anemia (AIHA),especially in adults but there is scarce data regarding the use of this agent in pediatric AIHA patients.The authors report two cases of steroid refractory AIHA, who responded to rituximab with review the literature of its use in pediatrics. PMID:21830023
Gupta, Nitin; Sharma, Sanjeev; Seth, Tulika; Mishra, Pravas; Mahapatra, Manoranjan; Kumar, Suman; Kapoor, Rajan; Agarwal, Narendra
Iron deficiency anemia in heart failure.
Anemia and iron deficiency are quite prevalent in patients with heart failure (HF) and may overlap. Both anemia and iron deficiency are associated with worse symptoms and adverse clinical outcomes. In the past few years, there has been an enormous interest in the subject of iron deficiency and its management in patients with HF. In this review, the etiology and relevance of iron deficiency, iron metabolism in the setting of HF, studies on iron supplementation in patients with HF and potential cardiovascular effects of subclinical iron overload are discussed. PMID:22948485
Arora, Natasha P; Ghali, Jalal K
Idiopathic aplastic anemia: diagnosis and classification.
Aplastic anemia (AA) is a disease characterized by pancytopenia and hypoplastic bone marrow caused by the decrease of hematopoietic stem cells. The pathogenesis of AA is complex and involves an abnormal hematopoietic microenvironment, hematopoietic stem cell/progenitor cell deficiencies and immunity disorders. Survival in severe aplastic anemia (SAA) has markedly improved in the past 4 decades because of advances in hematopoietic stem cell transplantation, immunosuppressive and biologic drugs, and supportive care. Herein, we will update the main issues concern AA according to our literature review. PMID:24424170
Dolberg, Osnat Jarchowsky; Levy, Yair
Macrocytic Anemia and Thrombocytopenia Induced by Orlistat
Introduction: The overall incidence of obesity and its prevalence is increasing continuously. The obesity is a cardiovascular risk factor whose importance is increasing too. It is associated with many chronic conditions such as type II diabetes mellitus or cardiovascular diseases. The obesity is also implicated as a risk factor for several kinds of cancer such as esophagus, pancreas, colon, rectum, breast cancer in menopausal women. The treatment of the obesity may reduce the incidence of these diseases. The mainstray of the treatment of obesity is changing the lifestyles, but obesity�s treatment may need drug therapy or even though surgical treatment. Orlistat is a specific inhibitor of gastrointestinal lipases, which stops fat absortion. It is used along with a hypocaloric diet, for obesity�s treatment. The beneficial effects of orlistat include weight loss, the improvement of blood pressure�s control, it may delay the development of diabetes mellitus, and it may reduce HbA1c. Case Report: Besides the interaction with other drugs (mainly warfarin and amiodarone). Orlistat�s mainly side effects are gastrointestinal disorders such as the existence of oily spotting from the rectum, abdominal pain or discomfort, fecal urgency. There are also side effects at other levels, like flu symptoms, hypoglycemia, heathache or upper respiratory infections. There are other side effects with very low incidence but clinically relevant like pancreatitis, subacute liver failure, severe liver disease, myopathy, or tubular necrosis secondary to oxalate nephropathy induced by Orlistat. Discussion: In this case report appears a new adverse effect of Orlistat that has not been described above: thrombopenia and macrocytic anemia.
Palacios-Martinez, David; Garcia-Alvarez, Juan Carlos; Montero-Santamaria, Nieves; Villar-Ruiz, Olga Patricia; Ruiz-Garcia, Antonio; Diaz-Alonso, Raquel Asuncion
Inappropriately low erythropoietin response for the degree of anemia in patients with noninsulin-dependent diabetes mellitus.
We investigated erythropoietin (Epo) response in a cohort of diabetic patients with various types of anemia to approach the pathogenesis of some cases of "unexplained" anemia encountered among diabetics. Serum Epo levels were determined totally in 747 evaluable subjects with normal renal and hepatic function, of whom 694 had anemia. Among anemic patients, 237 were diabetics, while among the 53 nonanemic persons, there were also 21 diabetics. Diabetic and nondiabetic subjects were uniformly balanced in relation to their demographic features and were categorized according to the etiology of their anemia. Hemoglobin (Hb) did not differ between diabetic and nondiabetic subjects in all the etiological groups and in the whole population. Diabetic patients had significantly lower serum Epo levels as compared to nondiabetics (36.5+/-61 vs 69.4+/-191 IU/ml, p<0.0001), and this was true for all etiologic groups of anemia with the exception of patients with myeloproliferative disorders and those with megaloblastic anemia. The natural logarithmic (ln)-EpoxHb component was used as an index of response to anemia and was found to be significantly decreased in almost all subgroups of diabetic patients. Serum Epo levels were also negatively correlated with the percentage of glycosylated Hb, HbA1(C) (r=-0.446), and the correlation was stronger with the ln of serum Epo (r=-0.638, p<0.001). Inappropriately low serum Epo level is a uniform feature in patients with type II diabetes mellitus and may represent a constitutive blunted response to anemia or an altered metabolic rate of Epo, probably as a result of abnormal glycosylation of the cytokine. PMID:16132904
Symeonidis, Argiris; Kouraklis-Symeonidis, Alexandra; Psiroyiannis, Agathoklis; Leotsinidis, Michalis; Kyriazopoulou, Venetsana; Vassilakos, Pavlos; Vagenakis, Apostolos; Zoumbos, Nicholas
High Prevalence but Insufficient Treatment of Iron-Deficiency Anemia in Patients with Inflammatory Bowel Disease: Results of a Population-Based Cohort
Background. Iron-deficiency anemia is described to be a common problem in patients with inflammatory bowel disease (IBD), which is frequently associated with a reduced quality of life. Therefore, the aim of this study is to assess the prevalence of iron deficiency anemia in a population-based cohort at time of first diagnosis and during the early course of the disease. Methods. As far as available, lab values of patients registered in the population-based �Oberpfalz cohort� were screened. In anemic patients, we further investigated all laboratory results to differentiate between iron deficiency and other reasons for anemia. All patients with any kind of anemia were interviewed separately according to symptoms of iron-deficiency anemia and administration of iron. Results. In total, we evaluated hemoglobin values of 279 patients (183 Crohn's disease, 90 ulcerative colitis, and 6 indeterminate colitis). Lab data which allowed further differentiation of the type of anemia were available in 70% of anemic patients, in 34.4% values of iron, ferritin and transferrin saturation had been measured. At time of first diagnosis, an iron-deficiency anemia was diagnosed in 26 of 68 patients with anemia (38.2%, 20 CD, 4 UC, and 2 IC patients), but only 9 patients (34.6%) received subsequent iron therapy. After one year, 27 patients were identified to have an iron-deficiency anemia (19 CD, 8 UC), 20 of them were treated with iron (71.4%). Of 9 patients with proven iron-deficiency anemia at time of first diagnosis and subsequent administration of iron, 5 (55.5%) had iron-deficiency anemia despite permanent treatment after one year. In total, 38 patients (54.3%) did not receive any iron substitution at all despite of proven iron-deficiency anemia, and only 13 patients of 74 patients were treated with intravenous iron (17.6%). Conclusion. We found a high prevalence of iron-deficiency anemia at different points during the early course of disease in this population-based cohort of IBD patients. Surprisingly, only in one-third of patients with proven anemia, further diagnostic approach was undertaken. Even patients with diagnosed iron-deficiency anemia were infrequently and inconsequently treated with iron preparations, despite the high impact on quality of life.
Ott, Claudia; Liebold, Anne; Takses, Angela; Strauch, Ulrike G.; Obermeier, Florian
cDNA Cloning of Human R-Type Pyruvate Kinase and Identification of a Single Amino Acid Substitution (Thr384--> Met) Affecting Enzymatic Stability in a Pyruvate Kinase Variant (PK Tokyo) Associated with Hereditary Hemolytic Anemia
cDNA clones for human R-type pyruvate kinase (PK) were isolated from a human reticulocyte cDNA library, constructed by PCR with a single gene-specific primer. The full-length cDNA was 2060 base pairs long, and the cDNA encoded 574 amino acids, the same number as that by rat R-type PK. Compared with human L-type PK, R-type PK was 31 amino acids longer
Hitoshi Kanno; Hisaichi Fujii; Akira Hirono; Shiro Miwa
Current approaches for the treatment of autoimmune hemolytic anemia.
Autoimmune hemolytic anemia (AIHA) is an infrequent group of diseases defined by autoantibody mediated red blood cell destruction. Correct diagnosis and classification of this condition are essential to provide appropriate treatment. AIHA is divided into warm and cold types according to the characteristics of the autoantibody involved and by the presence of an underlying or associated disorder into primary and secondary AIHA. Due to its low frequency, treatment for AIHA is largely based on small prospective trials, case series, and empirical observations. This review describes in detail the different treatment approaches for autoimmune hemolytic anemia. Warm antibody type AIHA should be treated with steroids, to which most patients respond, although relapse can occur and maintenance doses are frequently required. Splenectomy is an effective second line treatment and can provide long-term remission without medication. Rituximab is a useful alternative for steroid refractory patients, those requiring high maintenance doses and unfavorable candidates for surgery. Promising therapeutic modifications with this monoclonal antibody are emerging including drug combinations, lower doses, and long-term use. Primary cold agglutinin disease has been recognized as having a lymphoproliferative monoclonal origin. It is unresponsive to both steroids and splenectomy. Rituximab is currently the best therapeutic alternative for this condition, and several treatment regimens are available with variable responses. PMID:23689532
Jaime-P�rez, Jos� Carlos; Rodr�guez-Mart�nez, Marisol; G�mez-de-Le�n, Andr�s; Tar�n-Arzaga, Luz; G�mez-Almaguer, David
Equine infectious anemia and equine infectious anemia virus in 2013: a review.
A detailed description of equine infectious anemia virus and host responses to it are presented. Current control and eradication of the infection are discussed with suggestions for improvements to increase their effectiveness. PMID:24183747
Cook, R F; Leroux, C; Issel, C J
Lack of galectin-3 alleviates trypanosomiasis-associated anemia of inflammation.
A typical pathological feature associated with experimental African trypanosomiasis (Trypanosoma brucei infection in mice) is anemia of chronic disease (ACD), which is due to a sustained type 1 cytokine-mediated inflammation and hyperactivation of M1 macrophages. Galectin-3 (Gal-3) was amply documented to contribute to the onset and persistence of type 1 inflammatory responses and we herein document that this protein is strongly upregulated during T. brucei infection. We evaluated the involvement of Gal-3 in trypanosomiasis-associated anemia using galectin-3 deficient (Gal3(-/-)) mice. T. brucei infected Gal3(-/-) mice manifested significant lower levels of anemia during infection and survived twice as long as wild type mice. Moreover, such mice showed increased levels of serum IL-10 and reduced liver pathology (as evidenced by lower AST/ALT levels). In addition, there was also an increase in gene expression of iron export genes and a reduced expression of genes, which are associated with accumulation of cellular iron. Our data indicate that Gal-3 is involved in the development of inflammation-associated anemia during African trypanosomiasis, possibly due to a disturbed iron metabolism that in turn may also lead to liver malfunction. PMID:20605052
Vankrunkelsven, Ann; De Ceulaer, Kris; Hsu, Daniel; Liu, Fu-Tong; De Baetselier, Patrick; Stijlemans, Beno�t
Uses of Epoetin for Anemia in Oncology.
National Technical Information Service (NTIS)
For patients with anemia resulting primarily from cancer therapy, epoetin reduces the odds of transfusion. The overall number needed to treat (NNT) is 4.4 (95 percent confidence interval (CI), 3.6 to 6.1), which suggests four to five patients must be trea...
J. Seidenfeld M. Piper N. Aronson
Soluble transferrin receptor in complicated anemia.
Determination of serum soluble transferrin receptor (sTfR) has been proposed to identify iron-deficiency anemia (IDA) in patients affected by concurrent inflammatory disease that may spuriously increase ferritin concentration. The aim of this study was to critically review the available literature to assess the diagnostic efficacy of sTfR in complicated anemia. The criteria for study selection were: enrolment of patients with complicated anemia; bone marrow examination used as diagnostic gold standard for IDA; evaluation of sTfR vs. ferritin and binary data presentation. Six published studies met the criteria. However, the small size and wide heterogeneity of the studies did not allow us to conduct a meta-analysis. sTfR was overall more sensitive, even though it was evident that the ferritin sensitivity was influenced by selected cut-offs. Well-designed studies are still needed to define the added value, if any, of sTfR to ferritin for IDA detection in complicated anemia. PMID:24525213
Braga, Federica; Infusino, Ilenia; Dolci, Alberto; Panteghini, Mauro
Immune Hemolytic Anemia--Selected Topics
Autoimmune hemolytic anemia (AIHA) is most often idiopathic. However, in recent years, AIHA has been noted with increased incidence in patients receiving purine nucleoside analogues for hematologic malig- nancies; it has also been described as a complication of blood transfusion in patients who have also had alloimmunization. As the technology of hematopoietic stem cell transplantation has become more wide- spread,
P. C. Hoffman; Morie A. Gertz; Robert A. Brodsky
Bone Marrow Transplantation for Fanconi Anemia
Fanconi anemia is a genetic disorder associated with diverse congenital abnormalities, progressive bone marrow failure, and increased risk of leukemia and other cancers. Affected persons often die before 30 years of age. Bone marrow trans- plantation is an effective treatment, but there are few data regarding factors associated with transplant outcome. We analyzed outcomes of HLA-identical sibling (N = 151)
Eliane Gluckrnan; Arleen D. Auerbach; Mary M. Horowitz; Kathleen A. Sobocinski; Robert C. Ash; Mortimer M. Bortin; Anna Butturini; Bruce M. Carnitta; Richard E. Charnplin; Wilhelrn Friedrich; Robert A. Good; Edward C. Gordon-Smith; Richard E. Harris; John P. Klein; Juan J. Ortega; Ricardo Pasquini; Norma K. C. Rarnsay; Bruno Speck; Marcus R. Vowels; Mei-Jie Zhang; Robert Peter Gale
[Biermer's disease and autoimmune hemolytic anemia].
Biermer's disease is an autoimmune atrophic gastritis of the fundus predominantly responsible for a malabsorption of vitamin B12. Despite its association with several autoimmune disorders, few observations have reported an association with autoimmune hemolytic anemia (AIHA). We report a case of Biermer's disease associated with AIHA in a patient of 66 years old. PMID:22796620
Nafil, Hatim; Tazi, Illias; Mahmal, Lahoucine
Concurrent pernicious anemia and myelodysplastic syndrome
Megaloblastic anemia (MA) due to vitamin B12 deficiency is a reversible form of ineffective hematopoiesis. Myelodysplastic syndrome (MDS) is an acquired, irreversible disorder of ineffective hematopoiesis, characterized by stem cell dysfunction as a consequence of DNA damage manifested in part by karyotype anomalies. Importantly, MA and MDS are generally considered mutually exclusive diagnoses. We report the case of a 73-year-old
Joseph J. Drabick; Brad J. Davis; John C. Byrd
A short review of malabsorption and anemia.
Anemia is a frequent finding in most diseases which cause malabsorption. The most frequent etiology is the combination of iron and vitamin B12 deficiency. Celiac disease is frequently diagnosed in patients referred for evaluation of iron deficiency anemia (IDA), being reported in 1.8%-14.6% of patients. Therefore, duodenal biopsies should be taken during endoscopy if no obvious cause of iron deficiency (ID) can be found. Cobalamin deficiency occurs frequently among elderly patients, but it is often unrecognized because the clinical manifestations are subtle; it is caused primarily by food-cobalamin malabsorption and pernicious anemia. The classic treatment of cobalamin deficiency has been parenteral administration of the vitamin. Recent data suggest that alternative routes of cobalamin administration (oral and nasal) may be useful in some cases. Anemia is a frequent complication of gastrectomy, and has been often described after bariatric surgery. It has been shown that banding procedures which maintain digestive continuity with the antrum and duodenum are associated with low rates of ID. Helicobacter pylori (H. pylori) infection may be considered as a risk factor for IDA, mainly in groups with high demands for iron, such as some children and adolescents. Further controlled trials are needed before making solid recommendations about H. pylori eradication in these cases. PMID:19787827
Fern�ndez-Ba�ares, Fernando; Monz�n, Helena; Forn�, Montserrat
A short review of malabsorption and anemia
Anemia is a frequent finding in most diseases which cause malabsorption. The most frequent etiology is the combination of iron and vitamin B12 deficiency. Celiac disease is frequently diagnosed in patients referred for evaluation of iron deficiency anemia (IDA), being reported in 1.8%-14.6% of patients. Therefore, duodenal biopsies should be taken during endoscopy if no obvious cause of iron deficiency (ID) can be found. Cobalamin deficiency occurs frequently among elderly patients, but it is often unrecognized because the clinical manifestations are subtle; it is caused primarily by food-cobalamin malabsorption and pernicious anemia. The classic treatment of cobalamin deficiency has been parenteral administration of the vitamin. Recent data suggest that alternative routes of cobalamin administration (oral and nasal) may be useful in some cases. Anemia is a frequent complication of gastrectomy, and has been often described after bariatric surgery. It has been shown that banding procedures which maintain digestive continuity with the antrum and duodenum are associated with low rates of ID. Helicobacter pylori (H pylori) infection may be considered as a risk factor for IDA, mainly in groups with high demands for iron, such as some children and adolescents. Further controlled trials are needed before making solid recommendations about H pylori eradication in these cases.
Fernandez-Banares, Fernando; Monzon, Helena; Forne, Montserrat
Cyclical iron supplementation to reduce anemia among Brazilian preschoolers: a randomized controlled trial
Background Iron-deficiency anemia is the most common type of nutritional disorder. New strategies for the treatment of anemia are very important for its reduction. The aim of this study was to assess the efficacy and feasibility of cyclical iron supplementation as a strategy to reduce the prevalence of anemia among preschoolers. Methods A randomized controlled trial was performed in the entire population of under five-year-old children who attended government daycare centers in a small town in the State of Sao Paulo, Brazil. The children were randomly allocated into two intervention groups: the Weekly and Cyclical Groups. During a ten-month period, the Weekly Group (n?=?51) received weekly doses of 30?mg elemental iron (40 doses) and the Cyclical Group (n?=?48) received two cycles of 20 daily doses of 30?mg elemental iron separated by a four-month period (40 doses). Results Overall, at the end of ten months, the prevalence of anemia of the children on both supplementation regimens showed a significant decrease from 20.20% to 5.05% (p-value?0.0005). There was no significant difference in the anemia between the two groups (p-value?=?0.35). The mean hemoglobin concentration increased by 0.27?g/dL (p-value?0.016) and 0.47?g/dL (p-value?0.0005) in the Weekly and Cyclical Groups, respectively; again there was no significant difference between groups (p-value?=?0.17). However, the cyclical regimen was easier to manage. Conclusions Both supplementation regimens significantly reduced the prevalence of anemia however administration of the Cyclical Group was easier to carry out and control. Clinical trial registration number NCT00992823
Anemia in a cohort of HIV-infected Hispanics: prevalence, associated factors and impact on one-year mortality
Background Anemia occurs frequently in HIV-infected patients and has been associated with an increased risk of death in this population. For Hispanic subjects, information describing this blood disorder during HIV is scarce. Therefore, the present study examined data from a cohort of HIV-positive Hispanics to determine the prevalence of anemia, identify its associated factors, and evaluate its relationship with one-year mortality. Methods This study included 1,486 patients who enrolled between January, 2000 and December, 2010 in an HIV-cohort in Bayam�n, Puerto Rico. Data were collected through personal interviews and medical record abstractions. To determine the factors independently associated with anemia, a multivariable logistic regression model was used. Kaplan-Meier and Cox proportional hazards models were also performed to estimate survival time and to predict death risk. Results The prevalence of anemia at enrollment was 41.5%. Factors independently associated with increased odds of anemia were: unemployment (OR?=?2.02; 95% CI 1.45-2.79), CD4 count <200 cells/?L (OR?=?2.66; 95% CI 1.94-3.66), HIV viral load ?100,000 copies/mL (OR?=?1.94; 95% CI 1.36-2.78), white blood cell count <4,000 cells/?L (OR?=?2.42; 95% CI 1.78-3.28) and having clinical AIDS (OR?=?2.39; 95% CI 1.39-4.09). Overweight (OR?=?0.43; 95% CI 0.32-0.59) and obese (OR?=?0.44; 95% CI 0.29-0.67) BMI�s were independently associated with reduced odds of anemia. Survival differed significantly by anemia status (log-rank test: p?0.001). One-year mortality estimates were: 30.8%, 23.3%, 8.4% and 2.5%, for patients with severe, moderate, mild and no anemia, respectively. Having anemia at baseline was independently associated with an increased one-year mortality risk (severe anemia: HR?=?9.06; 95% CI: 4.16-19.72; moderate anemia: HR?=?6.51; 95% CI: 3.25-13.06; mild anemia: HR?=?2.53; 95% CI: 1.35-4.74). Conclusions A high prevalence of anemia at enrollment was observed in this cohort of HIV-infected Hispanics. Unemployment and several adverse prognostic features of HIV infection were independently associated with this blood disorder. Anemia resulted to be the strongest predictor of one-year mortality, evidencing a dose�response effect. Further investigations are needed to evaluate whether recovering from anemia is associated with longer survival, and to identify the types of anemia affecting this particular group of HIV patients.
Hepcidin-dependent and hepcidin-independent regulation of erythropoiesis in a mouse model of anemia of chronic inflammation.
Increased hepcidin antimicrobial peptide correlates with hypoferremia and anemia in various disease states, but its requirement for anemia of inflammation has not been adequately demonstrated. Anemia of inflammation is usually described as normocytic and normochromic, while diseases associated with over expression of hepcidin, alone, are often microcytic and hypochromic. These differences in erythrocyte parameters suggest anemia in many inflammatory states may not be fully explained by hepcidin-mediated iron sequestration. We used turpentine-induced sterile abscesses to model chronic inflammation in mice with targeted disruption of Hepcidin 1 [Hepc1 (-/-)] or its positive regulator, Interleukin-6 [IL-6 (-/-)], to determine whether these genes are required for features characteristic of anemia of inflammation. Although hemoglobin levels did not decline in Hepc1 (-/-) mice with sterile abscesses, erythrocyte numbers were significantly reduced compared to untreated Hepc1 (-/-) mice. In contrast, both hemoglobin concentration and erythrocyte number declined significantly in wild type and IL-6 (-/-) mice with sterile abscesses. Both Hepc1 (-/-) and IL-6 (-/-) mice had increased erythrocyte mean cell volume and mean cell hemoglobin following sterile abscesses, while wild types had no change. Thus, IL-6 (-/-) mice with sterile abscesses exhibit an intermediate phenotype between wild type and Hepc1 (-/-). Our results demonstrate the requirement of Hepc1 for the development of anemia in this rodent model. Simultaneously, our results demonstrate hepcidin-independent effects of inflammation on the suppression of erythropoiesis. Our results suggest chronic anemia associated with inflammation may benefit from interventions protecting erythrocyte number in addition to anti-hepcidin interventions aimed at enhancing iron availability. PMID:24415655
Langdon, Jacqueline M; Yates, Saiah C; Femnou, Laurette K; McCranor, Bryan J; Cheadle, Chris; Xue, Qian-Li; Vaulont, Sophie; Civin, Curt I; Walston, Jeremy D; Roy, Cindy N
Stem Cell Gene Therapy for Fanconi Anemia: Report from the 1st International Fanconi Anemia Gene Therapy Working Group Meeting
Survival rates after allogeneic hematopoietic cell transplantation (HCT) for Fanconi anemia (FA) have increased dramatically since 2000. However, the use of autologous stem cell gene therapy, whereby the patient's own blood stem cells are modified to express the wild-type gene product, could potentially avoid the early and late complications of allogeneic HCT. Over the last decades, gene therapy has experienced a high degree of optimism interrupted by periods of diminished expectation. Optimism stems from recent examples of successful gene correction in several congenital immunodeficiencies, whereas diminished expectations come from the realization that gene therapy will not be free of side effects. The goal of the 1st International Fanconi Anemia Gene Therapy Working Group Meeting was to determine the optimal strategy for moving stem cell gene therapy into clinical trials for individuals with FA. To this end, key investigators examined vector design, transduction method, criteria for large-scale clinical-grade vector manufacture, hematopoietic cell preparation, and eligibility criteria for FA patients most likely to benefit. The report summarizes the roadmap for the development of gene therapy for FA.
Tolar, Jakub; Adair, Jennifer E; Antoniou, Michael; Bartholomae, Cynthia C; Becker, Pamela S; Blazar, Bruce R; Bueren, Juan; Carroll, Thomas; Cavazzana-Calvo, Marina; Clapp, D Wade; Dalgleish, Robert; Galy, Anne; Gaspar, H Bobby; Hanenberg, Helmut; Von Kalle, Christof; Kiem, Hans-Peter; Lindeman, Dirk; Naldini, Luigi; Navarro, Susana; Renella, Raffaele; Rio, Paula; Sevilla, Julian; Schmidt, Manfred; Verhoeyen, Els; Wagner, John E; Williams, David A; Thrasher, Adrian J
[The role of cytokines in lymphoma with anemia].
This study was purposed to investigate the role of cytokines in pathogenesis of lymphoma-associated anemia. The levels of IFN-?, IL-1?, IL-6, TNF-? and EPO in serum from 45 lymphoma patients and 12 normal controls were detected by using ELISA, the EPOR level on bone marrow cells were detected by flow cytometry, the CFU-E of bone marrow cultured in vitro was counted under inverted microscope. The results showed that 25 (55.6%) out of 45 newly diagnosed lymphoma patients had anemia before diagnosis, 13 (28.9%) had anemia during therapy, 7 (15.5%)never had anemia. The IFN-? and TNF-? levels in serum of patients with moderate and severe anemia were significantly higher than those in patients with mild anemia and without anemia as well as normal controls. The EPO, IL-6 and IFN-? levels correlated negatively with Hb concentration in patients, the EPOR level in patients without anemia significantly higher than that in patients with anemia and normal controls. The bone marrow CFU-E amount in patients showed positive correlation with Hb and EPOR levels. It is concluded that the increased IFN-?, TNF-? and IL-6 may contribute to the anemia in lymphoma, and yet the EPO and EPOR levels are elevated to balance negative regulatory effects on hematopoiesis and maintain normal hematopoiesis. PMID:23628039
Wang, Ting; Tu, Mei-Feng; Zhu, Jun; Zheng, Wen; Shao, Zong-Hong
Schilling evaluation of pernicious anemia: current status
The Schilling examination remains a popular means of evaluating in vivo absorption of vitamin B/sub 12/. When absorption is abnormally low, the test may be repeated with addition to exogenous intrinsic factor (IF) in order to correct the IF deficiency that characterizes pernicious anemia. A dual-isotope variation provides a means of performing both stages of the test simultaneously, thereby speeding up the test and reducing dependence on complete urine collection. In vivo studies indicate that, when administered simultaneously, the absorption of unbound B/sub 12/ is elevated, and IF-bound B/sub 12/ is reduced, in pernicious-anemia patients, relative to the classic two-stage examination. A number of clinical studies indicate significant difficulty in resolving clincial diagnoses with the dual-tracer test. An algorithm is offered for selecting the most suitable variation of the Schilling test to improve the accuracy of test results and the ease of performance.
Zuckier, L.S.; Chervu, L.R.
Aplastic Anemia and Myelodysplastic Syndromes
... types of blood cells�red blood cells, white blood cells, or platelets. Red blood cells contain hemoglobin, an iron-rich ... does not produce enough healthy red or white blood cells or platelets. Too few functioning red and white blood cells ...
Editorial Respiratory repercussions of sickle cell anemia
Sickle cell anemia is a disease with autosomal reces- sive inheritance, secondary to a mutation in the gene of the hemoglobin ? chain, transforming normal hemoglobin (HbA) into sickle cell hemoglobin (HbS). When oxygenated, HbS presents normal function. At low oxygen tension, HbS undergoes polymerization, leading to the distortion of erythrocytes, which take on a characteristic sickle shape. This deformation
Gustavo Antonio Moreira
Laboratory diagnosis of iron-deficiency anemia
Background and methods:To determine the diagnostic values of laboratory tests used in the diagnosis of iron-deficiency anemia, the authors conducted\\u000a a systematic over-view of the relevant literature. Computerized searches of the MEDLINE database yielded 1,179 potentially\\u000a relevant citations. Fifty-five studies included the results of laboratory tests and histologic examination of the bone marrow\\u000a for at least 50% of an identifiable
Gordon H. Guyatt; Andrew D. Oxman; Mahmoud Ali; Andrew Willan; William McIlroy; Christopher Patterson
Copper deficiency anemia morphologically mimicking myelodysplastic syndrome.
A 64-year-old man underwent kidney transplantation for progressive chronic renal failure which had developed 8 years after allogeneic bone marrow transplantation for acute myeloid leukemia. Because of post-operative complications, he had been placed on intravenous hyperalimentation. Three months after the transplantation, anemia rapidly progressed (hemoglobin, 7.9 g/dl). The proportion of reticulocytes was 0.2%, but white blood cell and platelet counts remained within normal ranges. Serum iron, vitamin B12, and folate levels were normal. Bone marrow examination showed the presence of ringed sideroblasts and cytoplasmic vacuoles in a fraction of erythroid cells. Megakaryocytes were adequate in number with normal morphology. Although the findings were consistent with refractory anemia with ringed sideroblasts according to the WHO classification, cytoplasmic vacuolations were also observed in myeloid cells, suggesting copper deficiency. Indeed, serum copper and ceruloplasmin levels were found to be low (33 ?g/dl and 11 mg/dl, respectively), and oral copper supplementation at a daily dose of 1 mg was initiated. There was a prompt increase in reticulocytes, and the hemoglobin level was normalized within one month, in response to this regimen. In progressive anemia cases with ringed sideroblasts in the bone marrow, copper deficiency should be considered in the differential diagnosis. PMID:24681939
Kikuchi, Taku; Mori, Takehiko; Shimizu, Takayuki; Morita, Shinya; Kono, Hidaka; Nakagawa, Ken; Mitsuhasi, Takayuki; Murata, Mitsuru; Okamoto, Shinichiro
Effect of maternal anemia on fetal outcome.
We assess the effect of maternal iron deficiency anemia (MIDA) on cord blood iron status, placental weight and fetal outcome [birth weight, APGAR (appearance, pulse, Grimace, activity, and respiration) scores and birth asphyxia]. We conducted a cross sectional analytic study on fifty hospitalized pregnant women and their neonates over a year in a teaching hospital in the capital city of Bangladesh. Serum and cord hemoglobin concentration [Hb] with ferritin values were determined immediately after delivery, placental weight, gestational age, birth weight, APGAR scores and birth asphyxia were recorded. It was observed that 36 percent of the pregnant women were anemic. Maternal [Hb] and serum ferritin showed a highly significant positive correlation (r=0.92; p<0.001) indicating that iron deficiency was the most dominant factor in the causation of anemia amongst them. The maternal [Hb] showed a significant correlation with placental weight (r=0.40; p<0.001), birth weight (r=0.35; p<0.001), APGAR score (r=0.52; p<0.001), gestational age (r=0.61; p<0.001) and birth asphyxia. Maternal serum ferritin also correlated positively with cord ferritin (r=0.94; p<0.001), placental weight (r=0.26; p<0.001) and birth weight (r=0.27; p<0.001). Iron deficiency anemia (IDA) during pregnancy had significant adverse affect on the foetal outcome. PMID:20639833
Akhter, S; Momen, M A; Rahman, M M; Parveen, T; Karim, R K
Diagnosis and classification of pernicious anemia.
Pernicious anemia (PA) is a complex disorder consisting of hematological, gastric and immunological alterations. Diagnosis of PA relies on histologically proven atrophic body gastritis, peripheral blood examination showing megaloblastic anemia with hypersegmented neutrophils, cobalamin deficiency and antibodies to intrinsic factor and to gastric parietal cells. Anti-parietal cell antibodies are found in 90% of patients with PA, but have low specificity and are seen in atrophic gastritis without megaloblastic anemia as well as in various autoimmune disorders. Anti-intrinsic factor antibodies are less sensitive, being found in only 60% of patients with PA, but are considered highly specific for PA. The incidence of PA increases with age and is rare in persons younger than 30 years of age. The highest prevalence is seen in Northern Europeans, especially those in the United Kingdom and Scandinavia, although PA has been reported in virtually every ethnic group. Because of the complexity of the diagnosis, PA prevalence is probably underestimated and no reliable data are available on the risk of gastric cancer as the end-stage evolution of atrophic gastritis in these patients. PMID:24424200
Bizzaro, Nicola; Antico, Antonio
Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.
We recently identified 2 siblings afflicted with idiopathic, autosomal recessive aplastic anemia. Whole-exome sequencing identified a novel homozygous missense mutation in thrombopoietin (THPO, c.112C>T) in both affected siblings. This mutation encodes an arginine to cysteine substitution at residue 38 or residue 17 excluding the 21-amino acid signal peptide of THPO receptor binding domain (RBD). THPO has 4 conserved cysteines in its RBD that form 2 disulfide bonds. Our in silico modeling predicts that introduction of a fifth cysteine may disrupt normal disulfide bonding to cause poor receptor binding. In functional assays, the mutant-THPO-containing media shows two- to threefold reduced ability to sustain UT7-TPO cells, which require THPO for proliferation. Both parents and a sibling with heterozygous R17C change have reduced platelet counts, whereas a sibling with wild-type sequence has normal platelet count. Thus, the R17C partial loss-of-function allele results in aplastic anemia in the homozygous state and mild thrombocytopenia in the heterozygous state in our family. Together with the recent identification of THPO receptor (MPL) mutations and the effects of THPO agonists in aplastic anemia, our results have clinical implications in the diagnosis and treatment of patients with aplastic anemia and highlight a role for the THPO-MPL pathway in hematopoiesis in vivo. PMID:24085763
Dasouki, Majed J; Rafi, Syed K; Olm-Shipman, Adam J; Wilson, Nathan R; Abhyankar, Sunil; Ganter, Brigitte; Furness, L Mike; Fang, Jianwen; Calado, Rodrigo T; Saadi, Irfan
Reassessment of the microcytic anemia of lead poisoning
Hematologic abnormalities in childhood lead poisoning may be due, in part, to the presence of other disorders, such as iron deficiency or thalassemia minor. In order to reassess increased lead burden as a cause of microcytic anemia, we studied 58 children with class III or IV lead poisoning, normal iron stores, and no inherited hemoglobinopathy. Anemia occurred in 12% and microcytosis in 21% of these children. The combination of anemia and microcytosis was found in only one of 58 patients (2%). When only children with class IV lead poisoning were studied, the occurrence of microcytosis increased to 46%. However, the combination of microcytosis and anemia was found in only one of these 13 more severely affected patients. Microcytic anemia was similarly uncommon in children with either blood lead concentration greater than or equal to 50 microgram/100 ml. These data indicate that microcytosis and anemia occur much less commonly than previously reported in childhood lead poisoning uncomplicated by other hematologic disorders.
Cohen, A.R.; Trotzky, M.S.; Pincus, D.
A novel ubiquitin ligase is deficient in Fanconi anemia
Fanconi anemia is a recessively inherited disease characterized by congenital defects, bone marrow failure and cancer susceptibility. Cells from individuals with Fanconi anemia are highly sensitive to DNA-crosslinking drugs, such as mitomycin C (MMC). Fanconi anemia proteins function in a DNA damage response pathway involving breast cancer susceptibility gene products, BRCA1 and BRCA2 (refs. 1,2). A key step in this
Amom Ruhikanta Meetei; Johan P de Winter; Annette L Medhurst; Michael Wallisch; Quinten Waisfisz; Henri J van de Vrugt; Anneke B Oostra; Zhijiang Yan; Chen Ling; Colin E Bishop; Maureen E Hoatlin; Hans Joenje; Weidong Wang
Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia.
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus and progressive sensorineural deafness. We report the cases of two infants, aged 4 and 5 months, hospitalized for diabetic ketoacidosis requiring insulin therapy. Laboratory tests revealed megaloblasic anemia, thrombocytopenia and normal thiamine level. Neurosensorial investigations showed bilateral deafness and ophthalmic involvement. Treatment with oral thiamine normalized hematological disorders and controlled diabetes; however, thiamine therapy had no impact on neurosensorial disorders. PMID:19922902
Bouyahia, O; Ouderni, M; Ben Mansour, F; Matoussi, N; Khaldi, F
Equine Infectious Anemia Virus and the Ubiquitin-Proteasome System
Some retroviruses contain monoubiquitinated Gag and do not bud efficiently from cells treated with proteasome inhibitors, suggesting an interaction between the ubiquitin-proteasome system and retrovirus assembly. We examined equine infectious anemia virus (EIAV) particles and found that approximately 2% of the p9Gag proteins are monoubiquitinated, demonstrating that this Gag protein interacts with an ubiquitinating activity. Different types of proteasome inhibitors were used to determine if proteasome inactivation affects EIAV release from chronically infected cells. Pulse-chase immunoprecipitation and time course immunoblot analyses showed that proteasome inactivation slightly decreased virus release (at most a twofold effect), while it did not affect Gag processing. These results contrast with those obtained with other viruses which are sensitive to these inhibitors. This suggests that, although its Gag is monoubiquitinated, the requirements for EIAV release are somewhat different from those for retroviruses that are sensitive to proteasome inhibitors.
Ott, David E.; Coren, Lori V.; Sowder, Raymond C.; Adams, Julian; Nagashima, Kunio; Schubert, Ulrich
Determinants of Anemia among Preschool Children in Rural, Western Kenya
Although anemia in preschool children is most often attributed to iron deficiency, other nutritional, infectious, and genetic contributors are rarely concurrently measured. In a population-based, cross-sectional survey of 858 children 6�35 months of age in western Kenya, we measured hemoglobin, malaria, inflammation, sickle cell, ?-thalassemia, iron deficiency, vitamin A deficiency, anthropometry, and socio-demographic characteristics. Anemia (Hb < 11 g/dL) and severe anemia (Hb < 7 g/dL) prevalence ratios (PRs) for each exposure were determined using multivariable modeling. Anemia (71.8%) and severe anemia (8.4%) were common. Characteristics most strongly associated with anemia were malaria (PR: 1.7; 95% confidence interval [CI] = 1.5�1.9), iron deficiency (1.3; 1.2�1.4), and homozygous ?-thalassemia (1.3; 1.1�1.4). Characteristics associated with severe anemia were malaria (10.2; 3.5�29.3), inflammation (6.7; 2.3�19.4), and stunting (1.6; 1.0�2.4). Overall 16.8% of anemia cases were associated with malaria, 8.3% with iron deficiency, and 6.1% with inflammation. Interventions should address malaria, iron deficiency, and non-malarial infections to decrease the burden of anemia in this population.
Foote, Eric M.; Sullivan, Kevin M.; Ruth, Laird J.; Oremo, Jared; Sadumah, Ibrahim; Williams, Thomas N.; Suchdev, Parminder S.
Determinants of anemia among preschool children in rural, western Kenya.
Although anemia in preschool children is most often attributed to iron deficiency, other nutritional, infectious, and genetic contributors are rarely concurrently measured. In a population-based, cross-sectional survey of 858 children 6-35 months of age in western Kenya, we measured hemoglobin, malaria, inflammation, sickle cell, ?-thalassemia, iron deficiency, vitamin A deficiency, anthropometry, and socio-demographic characteristics. Anemia (Hb < 11 g/dL) and severe anemia (Hb < 7 g/dL) prevalence ratios (PRs) for each exposure were determined using multivariable modeling. Anemia (71.8%) and severe anemia (8.4%) were common. Characteristics most strongly associated with anemia were malaria (PR: 1.7; 95% confidence interval [CI] = 1.5-1.9), iron deficiency (1.3; 1.2-1.4), and homozygous ?-thalassemia (1.3; 1.1-1.4). Characteristics associated with severe anemia were malaria (10.2; 3.5-29.3), inflammation (6.7; 2.3-19.4), and stunting (1.6; 1.0-2.4). Overall 16.8% of anemia cases were associated with malaria, 8.3% with iron deficiency, and 6.1% with inflammation. Interventions should address malaria, iron deficiency, and non-malarial infections to decrease the burden of anemia in this population. PMID:23382166
Foote, Eric M; Sullivan, Kevin M; Ruth, Laird J; Oremo, Jared; Sadumah, Ibrahim; Williams, Thomas N; Suchdev, Parminder S
21 CFR 250.201 - Preparations for the treatment of pernicious anemia.
Code of Federal Regulations, 2010 CFR
...Preparations for the treatment of pernicious anemia. 250.201 Section 250.201 Food...Preparations for the treatment of pernicious anemia. (a) The ninth announcement of the Anti-anemia Preparations Advisory Board of the...
21 CFR 250.201 - Preparations for the treatment of pernicious anemia.
Code of Federal Regulations, 2010 CFR
...Preparations for the treatment of pernicious anemia. 250.201 Section 250.201 Food...Preparations for the treatment of pernicious anemia. (a) The ninth announcement of the Anti-anemia Preparations Advisory Board of the...
Prevalence of anemia in persons 65 years and older in the United States: evidence for a high rate of unexplained anemia
Clinicians frequently identify anemia in their older patients, but national data on the prevalence and causes of anemia in this population in the United States have been unavailable. Data presented here are from the noninstitutionalized US popu- lation assessed in the third National Health and Nutrition Examination Survey (1988-1994). Anemia was defined by World Health Organization criteria; causes of anemia
Jack M. Guralnik; Richard S. Eisenstaedt; Luigi Ferrucci; Harvey G. Klein; Richard C. Woodman; L. P. Bridgewater
Lactate dehydrogenase as a predictor of kidney involvement in patients with sickle cell anemia
A retrospective chart review of 40 patients with sickle cell anemia (SCA) between the ages of 5�19�years who were seen within\\u000a a 1-year period was performed to determine clinical and laboratory correlates for microalbuminuria and proteinuria. Age, sex,\\u000a height, body mass index (BMI), serum creatinine [and estimated glomerular filtration rate (eGFR) by Schwartz and MDRD formulas],\\u000a type of SCA, hemoglobin
Sevgi Gurkan; Kyla J. Scarponi; Hilary Hotchkiss; Beth Savage; Richard Drachtman
Rh Blood Group-Specific Antibodies in Immune Hemolytic Anemia Induced by Nomifensine
Nomifensine (Mental. Alival; Hoechst. Frankfurt. FRG). an antidepressant drug. may cause immune hemolytic anemia (IHA) of the so-called immune complex type that is believed to occur by means of an innocent-bystander mechanism. In this report we describe findings that are not consistent with this mechanism in a patient with nomifensine-induced intravascular IHA associated with renal failure. In vitro studies showed
A. Salama; C. Mueller-Eckhardt
Iron, anemia and hepcidin in malaria
Malaria and iron have a complex but important relationship. Plasmodium proliferation requires iron, both during the clinically silent liver stage of growth and in the disease-associated phase of erythrocyte infection. Precisely how the protozoan acquires its iron from its mammalian host remains unclear, but iron chelators can inhibit pathogen growth in vitro and in animal models. In humans, iron deficiency appears to protect against severe malaria, while iron supplementation increases risks of infection and disease. Malaria itself causes profound disturbances in physiological iron distribution and utilization, through mechanisms that include hemolysis, release of heme, dyserythropoiesis, anemia, deposition of iron in macrophages, and inhibition of dietary iron absorption. These effects have significant consequences. Malarial anemia is a major global health problem, especially in children, that remains incompletely understood and is not straightforward to treat. Furthermore, the changes in iron metabolism during a malaria infection may modulate susceptibility to co-infections. The release of heme and accumulation of iron in granulocytes may explain increased vulnerability to non-typhoidal Salmonella during malaria. The redistribution of iron away from hepatocytes and into macrophages may confer host resistance to superinfection, whereby blood-stage parasitemia prevents the development of a second liver-stage Plasmodium infection in the same organism. Key to understanding the pathophysiology of iron metabolism in malaria is the activity of the iron regulatory hormone hepcidin. Hepcidin is upregulated during blood-stage parasitemia and likely mediates much of the iron redistribution that accompanies disease. Understanding the regulation and role of hepcidin may offer new opportunities to combat malaria and formulate better approaches to treat anemia in the developing world.
Spottiswoode, Natasha; Duffy, Patrick E.; Drakesmith, Hal
Diagnosis and classification of autoimmune hemolytic anemia.
Uncompensated autoantibody-mediated red blood cell (RBC) consumption is the hallmark of autoimmune hemolytic anemia (AIHA). Classification of AIHA is pathophysiologically based and divides AIHA into warm, mixed or cold-reactive subtypes. This thermal-based classification is based on the optimal autoantibody-RBC reactivity temperatures. AIHA is further subcategorized into idiopathic and secondary with the later being associated with a number of underlying infectious, neoplastic and autoimmune disorders. In most cases AIHA is confirmed by a positive direct antiglobulin test (DAT). The standard therapeutic approaches to treatment of AIHA include corticosteroids, splenectomy, immunosuppressive agents and monoclonal antibodies. PMID:24418298
Bass, Garrett F; Tuscano, Emily T; Tuscano, Joseph M
[Hypochromic anemia in children with affective breath-holding spells].
Breath holding attacks are most common in children aged 6 months to 6 years, in 76% of cases between 6 and 18 months of age. Very often they are misinterpreted as tonic epileptic seizures. They are provoked by frustration, anger or sudden injury. Child starts to cry, then holds the breath at the end of expirium. After a few seconds it becomes cyanotic, and losses consciousness. It is usually floppy, but sometimes stiffness, and clonic seizures can be present, and child can be diagnosed as having epilepsy. The form in which child is pale is less frequent, and crying is usually brief or even absent in this type. Breath holding attacks usually do not last more then one to three minutes. Good heteroanamnesis is essential for diagnosis, revealing provoking factors for each attack. Interictal EEG registration is usually normal. Attacks often spontaneously cease after 5 or 6 years of age, and do not require any medical treatment. In more severe cases behavioral therapy has shown good results. It has been noticed that those children in adolescence have syncope more frequent then rest of population. Seventeen children (12 male and 5 female) were investigated at Pediatric Hospital in Sarajevo as breath holding attacks in period from June 1997 to June 2000. Age of patients was between 5 months and 5.5 years (median was 11 months). Hypochromic anemia was present in 12 patients (76%), with average hemoglobin value of 8.2 g/dl (5.9-11.0 g/dl). All children had normal EEG recording. Iron therapy gave positive response in 8 out of 9 patients that were followed (88.9%). Three patients had not come for follow up. It is concluded that hypochromic anemia is often a part of clinical presentation of breath holding attacks in children, and iron therapy can stop them. PMID:11219911
Zubcevi?, S; Hasanbegovi?, E; Gavranovi?, M
Etiology of Strokes in Children with Sickle Cell Anemia
ERIC Educational Resources Information Center
The most devastating complication of sickle cell anemia is cerebral infarction, affecting [approximately]30% of all individuals with sickle cell anemia. Despite being one of the most common causes of stroke in infants and children, the mechanism of cerebral infarction in this population has not been extensively studied and is poorly understood.�
DeBaun, Michael R.; Derdeyn, Colin P.; McKinstry, Robert C., III
Genetics Home Reference: Iron-refractory iron deficiency anemia
... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Iron-refractory iron deficiency anemia On this page: Description Genetic changes ... names Glossary definitions Reviewed July 2014 What is iron-refractory iron deficiency anemia? Iron-refractory iron deficiency ...
Suppression of hepcidin during anemia requires erythropoietic activity
and is responsible for meeting the body's normal iron requirement and for accumulating and controlling iron stores. The erythroid regulator maintains the production of erythrocytes irrespective of the body's iron balance. In persistent anemia due to blood loss, this process increases iron absorption and depletes iron stores. In anemias with ineffective erythropoiesis, the erythroid regulator also increases iron absorption but,
Mihwa Pak; Miguel A. Lopez; Victroia Gabayan; Tomas Ganz; Seth Rivera
Multivariable Discriminant Analysis for the Differential Diagnosis of Microcytic Anemia
Introduction. Iron deficiency anemia and thalassemia are the most common causes of microcytic anemia. Powerful statistical computer programming enables sensitive discriminant analyses to aid in the diagnosis. We aimed at investigating the performance of the multiple discriminant analysis (MDA) to the differential diagnosis of microcytic anemia. Methods. The training group was composed of 200 ?-thalassemia carriers, 65 ?-thalassemia carriers, 170 iron deficiency anemia (IDA), and 45 mixed cases of thalassemia and acute phase response or iron deficiency. A set of potential predictor parameters that could detect differences among groups were selected: Red Blood Cells (RBC), hemoglobin (Hb), mean cell volume (MCV), mean cell hemoglobin (MCH), and RBC distribution width (RDW). The functions obtained with MDA analysis were applied to a set of 628 consecutive patients with microcytic anemia. Results. For classifying patients into two groups (genetic anemia and acquired anemia), only one function was needed; 87.9% ?-thalassemia carriers, and 83.3% ?-thalassemia carriers, and 72.1% in the mixed group were correctly classified. Conclusion. Linear discriminant functions based on hemogram data can aid in differentiating between IDA and thalassemia, so samples can be efficiently selected for further analysis to confirm the presence of genetic anemia.
Urrechaga, Eloisa; Aguirre, Urko; Izquierdo, Silvia
X-linked inheritance of Fanconi anemia complementation group B
Fanconi anemia is an autosomal recessive syndrome characterized by diverse clinical symptoms, hypersensitivity to DNA crosslinking agents, chromosomal instability and susceptibility to cancer. Fanconi anemia has at least 11 complementation groups (A, B, C, D1, D2, E, F, G, I, J, L); the genes mutated in 8 of these have been identified. The gene BRCA2 was suggested to underlie complementation
Amom Ruhikanta Meetei; Marieke Levitus; Yutong Xue; Annette L Medhurst; Michel Zwaan; Chen Ling; Martin A Rooimans; Patrick Bier; Maureen Hoatlin; Gerard Pals; Johan P de Winter; Weidong Wang; Hans Joenje
The Fanconi Anemia Polypeptide FACC is Localized to the Cytoplasm
Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies, aplastic anemia, and chromosomal instability. A cDNA encoding the FA complementation group C (FACC) polypeptide was recently cloned [Strathdee, C. A., Gavish, H., Shannon, W. R. & Buchwald, M. (1992) Nature (London) 356, 763-767]. To further characterize this polypeptide, we generated a rabbit polyclonal antiserum against its carboxyl
Takayuki Yamashita; Dwayne L. Barber; Yuan Zhu; Nan Wu; Alan D. D'Andrea
Convergence of the Fanconi Anemia and Ataxia Telangiectasia Signaling Pathways
Fanconi anemia (FA) and ataxia telangiectasia (AT) are clinically distinct autosomal recessive disorders characterized by spontaneous chromosome breakage and hematological cancers. FA cells are hypersensitive to mitomycin C (MMC), while AT cells are hypersensitive to ionizing radiation (IR). Here, we identify the Fanconi anemia protein, FANCD2, as a link between the FA and ATM damage response pathways. ATM phosphorylates FANCD2
Toshiyasu Taniguchi; Irene Garcia-Higuera; Bo Xu; Paul R. Andreassen; Richard C. Gregory; Seong-Tae Kim; Michael B. Kastan; Alan D. D'Andrea
Fanconi anemia and breast cancer susceptibility meet again.
A new study reports biallelic mutations in RAD51C in a Fanconi anemia-like disorder, while a second study reports monoallelic mutations in the same gene associated with increased breast cancer risk. These findings strengthen the link between Fanconi anemia and breast cancer-associated pathways. PMID:20428093
Levy-Lahad, Ephrat
Pernicious anemia: New insights from a gastroenterological point of view
Pernicious anemia (PA) is a macrocytic anemia that is caused by vitamin B12 deficiency, as a result of intrinsic factor deficiency. PA is associated with atrophic body gastritis (ABG), whose diagnosis is based on histological confirmation of gastric body atrophy. Serological markers that suggest oxyntic mucosa damage are increased fasting gastrin and decreased pepsinogen ?. Without performing Schilling's test, intrinsic
Edith Lahner; Bruno Annibale
Prevalence of iron deficiency and anemia among strenuously trained adolescents
PurposeThere is a lack of awareness among physicians, dieticians, and public health planners as to the prevalence of iron deficiency and anemia among adolescents undergoing strenuous physical training. The aim of this study was to estimate the prevalence of iron deficiency and anemia among male adolescents undergoing such activity.
Drorit Merkel; Michael Huerta; Itamar Grotto; Dalit Blum; Orna Tal; Eliezer Rachmilewitz; Eitan Fibach; Yoram Epstein; Ofer Shpilberg
An Etiologic Profile of Anemia in 405 Geriatric Patients
Background. Anemia is a common condition in the elderly and a significant risk factor for increased morbidity and mortality, reducing not only functional capacity and mobility but also quality of life. Currently, few data are available regarding anemia in hospitalized geriatric patients. Our retrospective study investigated epidemiology and causes of anemia in 405 hospitalized geriatric patients. Methods. Data analysis was performed using laboratory parameters determined during routine hospital admission procedures (hemoglobin, ferritin, transferrin saturation, C-reactive protein, vitamin B12, folic acid, and creatinine) in addition to medical history and demographics. Results. Anemia affected approximately two-thirds of subjects. Of 386 patients with recorded hemoglobin values, 66.3% were anemic according to WHO criteria, mostly (85.1%) in a mild form. Anemia was primarily due to iron deficiency (65%), frequently due to underlying chronic infection (62.1%), or of mixed etiology involving a combination of chronic disease and iron deficiency, with absolute iron deficiency playing a comparatively minor role. Conclusion. Greater awareness of anemia in the elderly is warranted due to its high prevalence and negative effect on outcomes, hospitalization duration, and mortality. Geriatric patients should be routinely screened for anemia and etiological causes of anemia individually assessed to allow timely initiation of appropriate therapy.
Geisel, Tabea; Martin, Julia; Schulze, Bettina; Schaefer, Roland; Bach, Matthias; Virgin, Garth; Stein, Jurgen
Comparative Effectiveness of Epoetin and Darbepoetin for Managing Anemia in Patients Undergoing Cancer Treatment. Comparative Effectiveness Review Number 3.
National Technical Information Service (NTIS)
Anemia (deficiency of red blood cells) occurs in 13-78 percent of patients undergoing treatment for solid tumors and 30-40 percent of patients treated for lymphoma. Tumor type, treatment regimen, and history of prior cancer therapy influence the risk and ...
J. Bohlius J. Seidenfeld M. Piper O. Weingart S. Trelle
Pathogenesis of anemia in Trypanosoma brucei-infected mice.
The pathogenesis of anemia was studied in trypanosome-infected mice. A strain of Trypanosoma brucei, TREU 667, was used which first produces an acute phase marked by waves of parasitemia. Erythrocytes from infected animals were coated with immunoglobulin M during or just before the waves of anemia and parasitological crises. Erythrocytes from normal animals could be sensitized with "precrisis" sera presumably containing antigen and antibody. These data suggest that anemia during the acute phase is due to sensitization of erythrocytes with immunoglobulin M-antigen complexes. The anemia is partially compensated by a strong erythropoietic response. The acute phase is followed by a chronic phase marked by a constant high parasitemia and immunosuppression. The less marked anemia occurring during this latter phase is due to hemodilution and perhaps a low but significant immune response to the parasites, which causes continuing erythrocyte sensitization by immunoglobulin M-antigen complexes.
Amole, B O; Clarkson, A B; Shear, H L
Prevalence of anemia among women: A pilot study
Background The WHO estimates that more than 1/3rd of world population is anemic, of which iron deficiency anemia (IDA) is most common and serious problem of public health significance. Prevalence of anemia in India is among the highest in the world but within the country prevalence rates differ substantially between different regions. Indian Armed Forces personnel and families form a special class as it includes people from all regions. However, reliable data on the prevalence of anemia in families of naval personnel is scanty. The present study highlights the problem of anemia in non-pregnant wives of serving enrolled personnel of the Indian Navy in the reproductive age group. Methods A community based, cross sectional study was carried out at a Naval Base. Physical examination and hemoglobin estimation was done for 257 (100% sample) non-pregnant/non-lactating wives of serving enrolled personnel of the Indian Navy of age between 18 and 45years. Statistical analysis was carried out to estimate the prevalence of anemia. Results & Conclusion The prevalence of anemia was found to be 31.90%. Literacy status and Mean BMI of women with anemia was found to be significantly less than subjects without anemia. In conclusion this was a small study conducted to simply access the prevalence of anemia in wives of naval personnel, which though found much lower than national average is still high at 31.90%. Hence a larger multicentric study is being planned to evaluate the prevalence and factors associated with anemia in families of Armed Forces personnel.
Bobdey, Saurabh; Sinha, Shruti
Prevalences of anemia and iron deficiency anemia in Black and White women in the United States estimated by two methods.
Prevalences of anemia were estimated by two methods for 742 Black and 3,074 White nonpregnant women of childbearing age drawn from a large probability sample of the United States civilian noninstitutionalized population (NHANES I). One method defines the prevalence of anemia as the proportion of women with hemoglobin levels below a 12 g/dl "cut-off". The second method defines the prevalence of anemia as the proportion of women whose hemoglobin values are shifted downwards relative to a distribution of hemoglobin values of non-anemic women. Estimates produced by both methods suggest a higher prevalence of anemia in Black than in White women. Estimates produced by the "cut-off" method, however, are higher than those from the "distribution" method for both racial groups, probably because the "cut-off" method results in large overestimates in populations where anemia prevalence is low. The "distribution" method is further used to estimate the contribution of iron deficiency to anemia. Essentially all anemia in White women and a high proportion of anemia in Black women is associated with iron deficiency in the US civilian noninstitutionalized population. Iron supplementation trials are needed in order to define the magnitude of the problem accurately and plan appropriate public health programs.
Meyers, L D; Habicht, J P; Johnson, C L; Brownie, C
Initial diagnosis of anemia from sore mouth and improved classification of anemias by MCV and RDW in 30 patients.
Thirty patients with a wide range of sore mouth that led to the diagnosis of iron deficiency in 12 patients, pernicious anemia in 8 patients, combined deficiency of iron and vitamin B12 in 2 patients, and anemia of chronic disease in 8 patients were investigated. The oral signs and symptoms included glossitis, glossodynia, angular cheilitis, recurrent oral ulcer, oral candidosis, diffuse erythematous mucositis, and pale oral mucosa. The values of hemoglobin in 30 patients varied from normal to severe life-threatening levels, but none had developed generalized symptoms sufficiently advanced to arouse suspicions of anemia before they visited the Oral Medicine Clinic. The aim of this paper is to describe a retrospective study of 30 patients with oral changes as the initial manifestation of nutritional deficiency or anemia of chronic diseases. Improved diagnosis and classification of anemia based on the mean and heterogeneity of red cell size will be discussed. PMID:15583540
Lu, Shin-Yu; Wu, Hong-Cheng
Intravenous immunoglobulin-induced hemolytic anemia after thoracoscopic thymectomy for myasthenia gravis.
A 24-year-old woman underwent video-assisted thoracoscopic thymectomy for Osserman IIB myasthenia gravis (MG). In preparation for thymectomy, high-dose intravenous immunoglobulin (IVIG) was administered 1 week before the surgical procedure. After uneventful thoracoscopic thymectomy, the postoperative hemoglobin value decreased from 12.1 mg/dL to 8.2 mg/dL. A diagnosis of IVIG-associated hemolytic anemia was made based on a peripheral smear with numerous spherocytes, a positive direct antiglobulin test result, and increased reticulocyte count. Hemoglobin levels after IVIG administration should be monitored closely before and after elective surgical procedures to identify severe anemia. Transfusion of type-matched blood should be avoided and risk factors understood. PMID:24882299
Tsukada, Hisashi; Sunkara, Rajitha; Chi, Dorcas Doja; Keogh, Deirdre; Gaissert, Henning
Differentiation of Fanconi anemia and aplastic anemia using mitomycin C test in Tunisia.
Fanconi anemia (FA) is a recessive chromosomal instability syndrome that is clinically characterized by multiple symptoms. Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for FA diagnosis. In this study, we provide a detailed laboratory protocol for accurate assessment of FA diagnosis based on mitomycin C (MMC) test. Induced chromosomal breakage study was successful in 171 out of 205 aplastic anemia (AA) patients. According to the sensitivity of MMC at 50 ng/ml, 38 patients (22.22%) were diagnosed as affected and 132 patients (77.17%) as unaffected. Somatic mosaicism was suspected in an 11-year-old patient with a FA phenotype. Twenty-six siblings of FA patients were also evaluated and five of them (19.23%) were diagnosed as FA. From this study, a standard protocol for diagnosis of FA was developed. It is routinely used as a diagnostic test of FA in Tunisia. PMID:23537767
Talmoudi, Faten; Kilani, Olfa; Ayed, Wiem; Ben Halim, Nizar; Mellouli, Fethi; Torjmane, Lamia; Aissaoui, Lamia; Ben Youssef, Yosra; Kammoun, Lobna; Ben Othmane, Tarek; Bejaoui, Mohamed; Ben Romdhane, Neila; Elloumi, Moez; Hadiji, Sondes; Hentati, Sofiene; Chemkhi, Imene; Abidli, Nabila; Guermani, Helmi; Abdelhak, Sonia; Amouri, Ahlem
Ulcerative Colitis Associated with Aplastic Anemia; A Case Report
Anemia is the most common hematologic disorder in patients with ulcerative colitis (UC). In some cases, normochromic anemia results from the presence of chronic disease; however blood loss or malabsorption may lead to an iron deficiency anemia with hypochromic appearance. Other rare hematologic manifestations associated with UC include myelodysplastic syndromes and leukemia. Several investigators have suggested a clinical association between inflammatory bowel disease and myelodysplastic syndrome, which may they share an immune dysfunction and impairment of T-lymphocytes activities. UC is an inflammatory bowel disease of unknown etiology that mainly affects the mucosa of the colon. Immune mechanisms play an important role in UC, and immunogenetic factors have been implicated in the development of the disease. Aplastic anemia is a bone marrow stem cell disorder characterized by ineffective hematopoiesis, leading to pancytopenia. Although aplastic anemia is frequently idiopathic, the immune-mediated suppression of hematopoiesis may be implicated in at least half of patients, since more than half of these patients achieve hematological remission in response to immunosuppressive therapy. We report here a rare case of UC associated with pancytopenia requiring a blood transfusion in which a bone marrow examination showed aplastic anemia. A common pathogenic link between UC and aplastic anemia is suggested in this patient on the basis of the shared immunologic impairment underlying both diseases.
Ghavidel, Ali
Prevalence of anemia in First Nations children of northwestern Ontario.
OBJECTIVE: To estimate the prevalence of anemia among First Nations children of northwestern Ontario. DESIGN: Retrospective review of all hemoglobin determinations between 1990 and 1992 in the Sioux Lookout Zone. SETTING: The Sioux Lookout Zone Hospital, a secondary care referral hospital for 28 remote First Nations communities in northwestern Ontario, affiliated with the University of Toronto's Sioux Lookout Program. PARTICIPANTS: All First Nations children age 3 to 60 months who had produced venipuncture or fingerprick blood samples between 1990 and 1992 (614 children had a total of 1223 hemoglobin determinations). MAIN OUTCOME MEASURES: Prevalence of anemia by age, sex, geographical location, and diagnosis. Anemia was defined as a hemoglobin value less than 110g/L. RESULTS: Prevalence of anemia peaked in the age range of 6 to 24 months with prevalence rates of 51.7% to 79.3%. Conditions most commonly associated with anemia were respiratory tract infections. Children living in communities in the western part of the Sioux Lookout Zone were 1.64 times more likely to have anemia (95% confidence interval 1.15, 2.35) than children in the other communities. CONCLUSIONS: Anemia appears to be a serious public health problem among preschool children in the Sioux Lookout Zone.
Whalen, E. A.; Caulfield, L. E.; Harris, S. B.
Anemia management: development of a rapidaccess anemia and intravenous iron service
This article describes the initiation and evolution of the Rapid-Access Anemia Clinic (RAAC) at Guy�s and St Thomas� Hospitals, London, UK. This clinic was set up to provide diagnosis and treatment, and to coordinate investigative procedures, where necessary, into the underlying causes of anemia. Initially piloted with anemic preoperative orthopedic patients, the clinic now treats a wide range of conditions, deriving from both internal and external referrals. Treatment includes dietary advice, supplementation with iron, vitamin B12 and folate, and blood transfusion. Most patients at the RAAC need iron replacement, the majority of which require intravenous (IV) iron. Therefore the first-line IV iron-administration protocol is carefully considered to ensure viability of the service and patient satisfaction. Four IV irons available in the UK are discussed, with explanation of the benefits and drawbacks of each product and the reasoning behind the IV iron choice at different stages of the RAAC�s development. Costs to the service, affected by IV iron price and administration regimen, are considered, as well as the product�s contraindications. Finally, the authors reflect on the success of the RAAC and how it has improved patients� quality-of-treatment experience, in addition to benefiting the hospital and National Health Service in achieving specific health-care mandates and directives. Drawing from the authors� experiences, recommendations are given to assist others in setting up and providing a successful rapid-access anemia service or similar facility.
Radia, Deepti; Momoh, Ibrahim; Dillon, Richard; Francis, Yvonne; Cameron, Laura; Fagg, Toni-Lee; Overland, Hannah; Robinson, Susan; Harrison, Claire N
Anemia management: development of a rapidaccess anemia and intravenous iron service.
This article describes the initiation and evolution of the Rapid-Access Anemia Clinic (RAAC) at Guy's and St Thomas' Hospitals, London, UK. This clinic was set up to provide diagnosis and treatment, and to coordinate investigative procedures, where necessary, into the underlying causes of anemia. Initially piloted with anemic preoperative orthopedic patients, the clinic now treats a wide range of conditions, deriving from both internal and external referrals. Treatment includes dietary advice, supplementation with iron, vitamin B12 and folate, and blood transfusion. Most patients at the RAAC need iron replacement, the majority of which require intravenous (IV) iron. Therefore the first-line IV iron-administration protocol is carefully considered to ensure viability of the service and patient satisfaction. Four IV irons available in the UK are discussed, with explanation of the benefits and drawbacks of each product and the reasoning behind the IV iron choice at different stages of the RAAC's development. Costs to the service, affected by IV iron price and administration regimen, are considered, as well as the product's contraindications. Finally, the authors reflect on the success of the RAAC and how it has improved patients' quality-of-treatment experience, in addition to benefiting the hospital and National Health Service in achieving specific health-care mandates and directives. Drawing from the authors' experiences, recommendations are given to assist others in setting up and providing a successful rapid-access anemia service or similar facility. PMID:23950666
Radia, Deepti; Momoh, Ibrahim; Dillon, Richard; Francis, Yvonne; Cameron, Laura; Fagg, Toni-Lee; Overland, Hannah; Robinson, Susan; Harrison, Claire N
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome.
Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and bilateral sensorineural deafness, responding in varying degrees to thiamine treatment. We report a precedence case for the treatment of deafness associated with the typical triad of thiamine-responsive megaloblastic anemia in a 4-year-old boy who showed a poor use of preoperative hearing aids but demonstrated significant improvements in hearing ability 1 year after receiving a cochlear implant. PMID:24658560
Hagr, Abdulrahman Abdullah
How I treat acquired aplastic anemia
Survival in severe aplastic anemia (SAA) has markedly improved in the past 4 decades because of advances in hematopoietic stem cell transplantation, immunosuppressive biologics and drugs, and supportive care. However, management of SAA patients remains challenging, both acutely in addressing the immediate consequences of pancytopenia and in the long term because of the disease's natural history and the consequences of therapy. Recent insights into pathophysiology have practical implications. We review key aspects of differential diagnosis, considerations in the choice of first- and second-line therapies, and the management of patients after immunosuppression, based on both a critical review of the recent literature and our large personal and research protocol experience of bone marrow failure in the Hematology Branch of the National Heart, Lung, and Blood Institute.
Young, Neal S.
Anemia and transfusion of red blood cells
The red cells transfusion is a mainstay in the treatment of anemic patients. These blood transfusions are not without risks. The risk-benefit profile for red cell transfusions to treat anaemia is uncertain, but they may contribute to adverse patient outcomes in some situations. The ability of a patient to tolerate anaemia depends on their clinical condition and the presence of any significant co-morbidity; maintenance of circulating volume is of paramount importance. There is no universal transfusion trigger. Advances in the development and validation of physiological, accessible, practical and reliable markers to guide therapy are expected. To improve patients' outcomes, further study is required to more fully explore the risk of anemia, optimal hemoglobin level, and the risk and efficacy of RBC transfusion. Future clinical investigations with high priority should determine the efficacy of transfusion in those classified as uncertain scenarios. In the absence of data, it is prudent that transfusion is administered with caution in these clinical scenarios.
Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis
Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of inheritance for all subtypes is autosomal recessive, except for FA-B, which is X-linked. Cells derived from FA patients are�by definition�hypersensitive to DNA cross-linking agents, such as mitomycin C, diepoxybutane, or cisplatinum, which becomes manifest as excessive growth inhibition, cell cycle arrest, and chromosomal breakage upon cellular exposure to these drugs. Here we provide a detailed laboratory protocol for the accurate assessment of the FA diagnosis as based on mitomycin C-induced chromosomal breakage analysis in whole-blood cultures. The method also enables a quantitative estimate of the degree of mosaicism in the lymphocyte compartment of the patient.
Oostra, Anneke B.; Nieuwint, Aggie W. M.; Joenje, Hans; de Winter, Johan P.
How I treat Diamond-Blackfan anemia
Diamond-Blackfan anemia (DBA) is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. In addition to being an inherited bone marrow failure syndrome, DBA is also categorized as a ribosomopathy as, in more than 50% of cases, the syndrome appears to result from haploinsufficiency of either a small or large subunit-associated ribosomal protein. Nonetheless, the exact mechanism by which haploinsufficiency results in erythroid failure, as well as the other clinical manifestations, remains uncertain. New knowledge regarding genetic and molecular mechanisms combined with robust clinical data from several international patient registries has provided important insights into the diagnosis of DBA and may, in the future, provide new treatments as well. Diagnostic criteria have been expanded to include patients with little or no clinical findings. Patient management is therefore centered on accurate diagnosis, appropriate use of transfusions and iron chelation, corticosteroids, hematopoietic stem cell transplantation, and a coordinated multidisciplinary approach to these complex patients.
Muir, Ellen
Ubiquitylation and the Fanconi Anemia Pathway
The Fanconi anemia (FA) pathway maintains genome stability through co-ordination of DNA repair of interstrand crosslinks (ICLs). Disruption of the FA pathway yields hypersensitivity to interstrand crosslinking agents, bone marrow failure and cancer predisposition. Early steps in DNA damage dependent activation of the pathway are governed by monoubiquitylation of FANCD2 and FANCI by the intrinsic FA E3 ubiquitin ligase, FANCL. Downstream FA pathway components and associated factors such as FAN1 and SLX4 exhibit ubiquitin-binding motifs that are important for their DNA repair function, underscoring the importance of ubiquitylation in FA pathway mediated repair. Importantly, ubiquitylation provides the foundations for cross-talk between repair pathways, which in concert with the FA pathway, resolve interstrand crosslink damage and maintain genomic stability.
Garner, Elizabeth; Smogorzewska, Agata
[Clinical classification of iron deficiency anemia].
Symptoms have been analyzed of clinical pleomorphism of iron deficiency anemia (IDA). In the examination of 89 patients with IDA, as example, a complex of secondary abnormalities of metabolism accompanying IDA clinical course is demonstrated. Based on the study of aspects of the clinical course, features of the peripheral blood, indices for iron metabolism, measuring of the blood content of lactic, pyruvic acids, free histamine, free serotonin, free heparin in the blood plasma a clinical classification has been elaborated detailing stages of the condition, basic clinical forms and complications. A classification of IDA is presented. Included in the above classification are stages of the above medical condition, its clinical forms and complications with diagnostic criteria and policy of dealing with IDA outlined. The use of such a classification ensures continuity of work among physicians when they come to deal with problems of diagnosis, treatment and prophylaxis of IDA in patients. PMID:11881373
Vydyborets', S V; Ga?dukova, S M
[Cardiopulmonary complications in sickle cell anemia].
Sickle cell anemia, considered the most prevalent genetic disease among African Americans, is a disease with autosomal recessive inheritance pattern, characterized by the production of hemoglobin S. This abnormal protein polymerizes and facilitates the formation of fibrillar aggregates that alters the erythrocyte morphology. The stiffness of the red blood cells hinders the adequate transit across microcirculation, leading to hemolysis and increased blood viscosity, which ease thrombogenesis and vascular occlusion, resulting in tissue ischemia and microinfarcts. This disease has a high rate of morbidity and mortality, especially in the first three years of life, when a rapid diagnosis and appropriate treatment are essential. Cardiovascular complications such as heart failure and pulmonary hypertension may develop independently, and each one contributes to increased mortality, being the combination of both risk factors, an important aggravating factor for prognosis and a determinant indicator of mortality. PMID:24215682
Rojas-Jim�nez, Sara; Lopera-Valle, Johan; Yabur-Esp�tia, Mirna
[Anemia in head and neck cancers].
Anemia is very common in head and neck cancer patients, and seems to be correlated with intratumoral hypoxia. Anemia is one of the main prognostic factors of locoregional recurrence and, in some studies, of poor survival. Blood transfusions and human recombinant erythropoietin (rHuEPO) are the two main methods used in clinical practice to correct hemoglobin level during curative treatment. Blood transfusions were rarely evaluated, and did not influence locoregional control of patients treated with radiotherapy with or without chemotherapy. Retrospective studies evaluating combined treatment of rHuEPO and radiotherapy reported positive impact on locoregional recurrence and actuarial survival. Since the end of 2003, this approach is a matter for debate after the negative results of a prospective randomized study on progression-free survival concerning head and neck cancer patients treated with definitive or postoperative external radiotherapy with or without rHuEPO. Although many biases were reported against this publication, several questions are to be answered in the near future. Among them, erythropoietin receptor expression and activation on tumour cell seem to be the more appropriate explanation of these negative results. In October 2004, preliminary results of the RTOG 99-03 study have been presented at the Astro annual meeting in Atlanta. This prospective randomized trial was designed to determine if concurrent rHuEPO administration (40,000 units) with radiotherapy (with or without chemotherapy) could improve locoregional control in non-operative head and neck cancers. In the rHuEPO arm, haemoglobin level was significantly increased compared with control arm. However, the addition of concurrent rHuEPO to definitive radiotherapy did not improve locoregional control or survival for mildly/moderately anemic patients with head and neck squamous cell carcinoma. Future clinical trials using biological markers are thus imperative to target which patients could benefit from these molecules. PMID:15932808
Azria, David; Zouhair, Abderrahim; Serre, Antoine; Lemanski, Claire; Schneider, Maurice; Ozsahin, Mahmut; Dubois, Jean-Bernard; Lartigau, Eric
Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.
Hereditary red blood cell enzymopathies are genetic disorders affecting genes encoding red blood cell enzymes. They cause a specific type of anemia designated hereditary nonspherocytic hemolytic anemia (HNSHA). Enzymopathies affect cellular metabolism, which, in the red cell, mainly consists of anaerobic glycolysis, the hexose monophosphate shunt, glutathione metabolism, and nucleotide metabolism. Enzymopathies are commonly associated with normocytic normochromic hemolytic anemia. In contrast to other hereditary red cell disorders such as membrane disorders or hemoglobinopathies, the morphology of the red blood cell shows no specific abnormalities. Diagnosis is based on detection of reduced specific enzyme activity and molecular characterization of the defect on the DNA level. The most common enzyme disorders are deficiencies of glucose-6-phosphate dehydrogenase (G6PD) and pyruvate kinase (PK). However, there are a number of other enzyme disorders, often much less known, causing HNSHA. These disorders are rare and often underdiagnosed, and the purpose of this review. In this brief review, we provide an overview of clinically relevant enzymes, their function in red cell metabolism, and key aspects of laboratory diagnosis. PMID:24750686
Koralkova, P; van Solinge, W W; van Wijk, R
ITPA genotype protects against anemia during peginterferon and ribavirin therapy but does not influence virological response.
On-treatment anemia is associated with higher sustained virological response (SVR) rates during peginterferon plus ribavirin (RBV) therapy. Inosine triphosphatase (ITPA) variants causing ITPase deficiency have been shown to protect against RBV-induced anemia. However, ITPase activity has not been associated with SVR. To study this discrepancy, we examined the relationships between ITPase activity, on-treatment anemia, SVR, and RBV levels in hepatitis C virus genotype 1 (HCV-1) patients from the CHARIOT study. ITPA genotype (rs7270101, rs1127354) was used to define ITPase activity in 546 patients. Plasma RBV levels were measured using high-performance liquid chromatography (HPLC). Relationships between ITPase activity, on-treatment hemoglobin (Hb) levels, RBV levels, and SVR were tested using regression modeling, survival analysis, and locally weighted scatterplot smoothing (LOWESS) plot analysis. Hb decline was independently associated with SVR (P?0.0001). ITPase deficiency was present in 35%. ITPase deficiency strongly protected against Hb decline (P?0.0001), but was not associated with SVR (P?=?0.28). The probability of SVR increased with lower nadir Hb for both wild-type and deficient ITPase activity, but the association curve shifted to describe a parallel relationship at higher Hb levels in patients with ITPase deficiency. In a subset (n?=?203), we tested the hypothesis that the association between Hb decline and SVR reflected RBV levels rather than actual Hb level. RBV levels were associated with on-treatment Hb decline and SVR, but not ITPase activity. In regression models, adjustment for RBV levels attenuated the association between Hb decline and SVR. Conclusion: ITPase deficiency protects against RBV-induced anemia, but is not associated with SVR. Our data suggest that the relationship between Hb decline and SVR is not mechanistic, but is linked to RBV levels. (Hepatology 2014;59:2152-2160). PMID:24449403
Holmes, Jacinta A; Roberts, Stuart K; Ali, Rachel J; Dore, Gregory J; Sievert, William; McCaughan, Geoffrey W; Crawford, Darrell H; Cheng, Wendy S; Weltman, Martin D; Bonanzinga, Sara; Visvanathan, Kumar; Sundararajan, Vijaya; Desmond, Paul V; Bowden, D Scott; Matthews, Gail V; Thompson, Alexander J
Cerebral venous thrombosis associated with iron deficiency anemia.
A 55-year-old man presented with generalized seizures and postictal left hemiparesis. Computed tomography scanning of his head showed a low density area in the right frontal lobe. Cerebral angiography demonstrated a partial defect in the superior sagittal sinus and cortical veins, indicating the presence of cerebral venous thrombosis. He had bleeding from a peptic ulcer and the laboratory data revealed iron deficiency anemia concomitant with an elevation of D-dimer and thrombin-antithrombin III complex (TAT). After the anemia resolved with the treatment of the peptic ulcer and iron supplementation, the TAT and D-dimer levels were normalized, and the occluded veins were recanalized. In a cerebral venous thrombosis associated with iron deficiency anemia, treatment for the anemia may improve hypercoagulable state without antithrombotic therapy, although the long-term monitoring of TAT and D-dimer levels is required. PMID:18984440
Ogata, Toshiyasu; Kamouchi, Masahiro; Kitazono, Takanari; Kuroda, Junya; Ooboshi, Hiroaki; Shono, Tadahisa; Morioka, Takato; Ibayashi, Setsuro; Sasaki, Tomio; Iida, Mitsuo
Exceptional Blood Loss Anemia: Treatment with Hyperbaric Oxygen.
National Technical Information Service (NTIS)
Three patients with acute blood loss anemia, who had refused blood transfusions because of religious beliefs, were in hypovolemic shock and were treated with hyperbaric oxygen. Treatment with hyperbaric oxygen resulted in dramatic improvement, with revers...
G. B. Hart
[Hepatitis-associated aplastic anemia: description of a new case].
Hepatitis-associated aplastic anemia is an only recently recognised syndrome. We present a case whereby a month after an episode of fever, a 17-year-old boy was recovered with liver enzyme elevation and circulating platelet reduction. All the acute viral hepatitis markers were negative. After bone marrow aspiration a severe aplastic anemia was diagnosed and all the findings were consistent with hepatitis-associated aplastic anemia. The disorder was initially treated with glucocorticoids and platelet transfusion, obtaining the normalization of the liver enzymes but worsening of the aplastic anemia. An HLA-identical related marrow donor was not found. The patient responded to immunosuppressive treatment but died of multi-organ failure due to severe sepsis. PMID:15729019
Andreana, Augusto; Cesaro, Giuseppe; Giordano, Maria Grazia; Ricciotti, Raffaella; Andreana, Lorenzo
Diphyllobothrium pacificum Infection is Seldom Associated with Megaloblastic Anemia
Twenty cases of Dyphillobothrium pacificum (fish tapeworm) infections were prospectively studied to determine whether this tapeworm is associated with megaloblastic anemia, as commonly reported for D. latum infections. The most frequent symptoms were fatigue and mild abdominal pain, which were identified in approximately 66.6% of the 18 patients interviewed. Fourteen patients received treatment with niclosamide and all were cured. The other six patients spontaneously eliminated the tapeworms. One patient, who also had chronic diabetes and gastric atrophy, had low vitamin B12 levels and megaloblastic anemia. In all other patients, including three other patients with anemia, baseline vitamin B12 levels were in the reference range and did not significantly change when re-assessed three months later. Unlike D. latum, infection with D. pacificum is seldom associated with megaloblastic anemia or vitamin B12 deficit.
Jimenez, Juan A.; Rodriguez, Silvia; Gamboa, Ricardo; Rodriguez, Lourdes; Garcia, Hector H.
The Study of Anemia in Patients with Renal Disease.
National Technical Information Service (NTIS)
A sensitive radioimmunoassay for erythropoietin (ESF) has been developed during this past year with the Chloramine-T and Lactoperoxidase methods. Using this radioimmunoassay the serum levels of ESF were higher in patients with anemia of renal disease than...
J. W. Fisher W. J. Stuckey F. Gonzales
Vaccine Induced Enhancement of Equine Infectious Anemia Virus (EIAV) Replication.
National Technical Information Service (NTIS)
We have used the equine infectious anemia virus (EIAV) system to antibody dependent enhancement (ADE) of lentivirus replication and disease by experimental EIAV vaccines, as an animal model for human AIDS vaccine studies. During the current project period...
R. C. Montelaro
Fanconi Anemia Gene Linked to Breast Cancer Risk
A gene called BRIP1 that is mutated in some patients with the blood disease Fanconi anemia may also be a risk factor for breast cancer, according to a paper released online Oct. 10, 2006, by Nature Genetics.
Genetics Home Reference: Thiamine-responsive megaloblastic anemia syndrome
... begin to show symptoms of megaloblastic anemia between infancy and adolescence. This syndrome is called "thiamine-responsive" ... Diabetes becomes apparent in affected individuals sometime between infancy and adolescence. Although these individuals develop diabetes during ...
The Study of Anemia in Patients with Renal Disease.
National Technical Information Service (NTIS)
Factors postulated to play a role in the anemia of uremia are erythropoietin (ESF) deficiency, inhibitors of erythroid cell proliferation and/or ESF and decreased bone marrow response to erythropoietic stimuli. A radioimmunoassay for erythropoietin has be...
J. W. Fisher W. J. Stuckey D. D. Lindholm
Sickle cell anemia in Garasia tribals of Rajasthan.
Our objective was to document the prevalence of sickle cell anemia among scheduled tribe (Garasia) of Sirohi district in Rajasthan state and study the clinical and hematological profile of the patients with sickle cell disease (Hb SS). In this prospective cross-sectional study, 1676 Garasia tribals attending the hospital or the mobile clinic were screened for sickle cell anemia by sickling test followed by confirmation with hemoglobin (Hb) electrophoresis. Prevalence of sickle cell anemia was found to be 9.2% (155/1676) of which 0.8% (14/1676) were homozygous (disease, Hb SS) whereas 8.4% were heterozygous (carrier, Hb AS). Common presentations of sickle cell disease were anemia, pain, recurrent infection and splenomegaly. PMID:19179738
Mandot, Sanjay; Khurana, Vinay Laxmi; Sonesh, Jityendra Kumar
Pathogenesis of anemia in malaria: a concise review
Anemia is a common complication in malarial infection, although the consequences are more pronounced with Plasmodium falciparum malaria (Ghosh, Indian J Hematol Blood Tranfus 21(53):128�130, 2003). Anemia in this infection is caused by a variety of\\u000a pathophysiologic mechanisms, and in areas where malaria infection is endemic, co-morbidities like other parasitic infestations,\\u000a iron, folate and Vitamin B12 deficiency, deficiency of other
Kanjaksha Ghosh; Kinjalka Ghosh
Iron and anemia in human biology: a review of mechanisms
The biology of iron in relation to anemia is best understood by a review of the iron cycle, since the majority of iron for\\u000a erythropoiesis is provided by iron recovered from senescent erythrocytes. In iron-deficiency anemia, storage iron declines\\u000a until iron delivery to the bone marrow is insufficient for erythropoiesis. This can be monitored with clinical indicators,\\u000a beginning with low
Garry J. Handelman; Nathan W. Levin
Evaluation and Treatment of Iron Deficiency Anemia: A Gastroenterological Perspective
A substantial volume of the consultations requested of gastroenterologists are directed towards the evaluation of anemia.\\u000a Since iron deficiency anemia often arises from bleeding gastrointestinal lesions, many of which are malignant, establishment\\u000a of a firm diagnosis usually obligates an endoscopic evaluation. Although the laboratory tests used to make the diagnosis have\\u000a not changed in many decades, their interpretation has, and
Amy Zhu; Marc Kaneshiro; Jonathan D. Kaunitz
Defici�ncia de ferro e anemia em crian�as de Vit�ria ES
Abstract Objective: to determine the prevalence of iron deficiency and anemia in preschool children from Vit�ria, ES. Casuistic and Methods:a cross-section al study was conducted on 760 children, aged between 6 months and 7 years, selected at random from Municipal Child Education Centers. The parameters for diagnosing anemia among children under five years of age was hemoglobin level under 11.0
Eliana Zandonade; Marcelo Milit�o Abrantes; Joel Alves
Cardiac hemolytic anemia resolving after second mitral annuloplasty.
Following an episode of rheumatic carditis, severe mitral incompetence developed in a 9-year-old girl. A mitral annuloplasty succeeded for a short time in ameliorating her symptoms of cardiac failure. However, mitral incompetence recurred and was accompanied by severe anemia and hemosiderinuria. Distortion of erythrocytes was evident on a peripheral blood smear. A second mitral annuloplasty resulted in resolution of the hemolytic anemia. Images FIG. 1 FIG. 2
O'Regan, S.; Newman, A. J.
Nitrite-induced anemia in channel catfish, Ictalurus punctatus Rafinesque
Since 1983 numerous cases of anemia have been reported in populations of channel catfish Ictalurus punctatus Rafinesque cultured in the southeastern United States. Environmental nitrite-nitrogen concentrations of 4 mg/L or more occur sporadically in channel catfish culture ponds, and the frequency of occurrence is greatest in the fall and spring. The authors have observed that some cases of anemia in populations of pond-raised channel catfish follow prolonged exposure to high concentrations of environmental nitrite. However, there was no evidence that exposure of channel catfish to environmental nitrite was the cause of the observed anemia. Hemolytic anemia following nitrite exposure has been described for sea bass Dicentrarchus labrax (L.) and rainbow trout Salmo gairdneri, but not for channel catfish. In the present study the authors show that a variable, but generally mild, anemia develops in channel catfish exposed to nitrite. They also offer a management procedure for preventing the development of anemia during periods of elevated environmental nitrite concentrations.
Tucker, C.S. (Mississippi Agricultural and Forestry Experiment Station, Stoneville (USA)); Francis-Floyd, R.; Beleau, M.H. (College of Veterinary Medicine, Stoneville, MS (USA))
Orofacial manifestations of hematological disorders: anemia and hemostatic disorders.
The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases, with particular reference to anemias and disorders of hemostasis. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases, with emphasis on anemia. Mesh phrases used in the search were: oral diseases AND anaemia; orofacial diseases AND anaemia; orofacial lesions AND anaemia; orofacial manifestations AND disorders of haemostasis. The Boolean operator "AND" was used to combine and narrow the searches. Anemic disorders associated with orofacial signs and symptoms include iron deficiency anemia, Plummer-Vinson syndrome, megaloblastic anemia, sickle cell anemia, thalassaemia and aplastic anemia. The manifestations include conjunctiva and facial pallor, atrophic glossitis, angular stomatitis, dysphagia, magenta tongue, midfacial overgrowth, osteoclerosis, osteomyelitis and paraesthesia/anesthesia of the mental nerve. Orofacial petechiae, conjunctivae hemorrhage, nose-bleeding, spontaneous and post-traumatic gingival hemorrhage and prolonged post-extraction bleeding are common orofacial manifestations of inherited hemostatic disorders such as von Willebrand's disease and hemophilia. A wide array of anemic and hemostatic disorders encountered in internal medicine has manifestations in the oral cavity and the facial region. Most of these manifestations are non-specific, but should alert the hematologist and the dental surgeon to the possibilities of a concurrent disease of hemopoiesis or hemostasis or a latent one that may subsequently manifest itself. PMID:22048588
Adeyemo, Titilope A; Adeyemo, Wasiu L; Adediran, Adewumi; Akinbami, Abd Jaleel A; Akanmu, Alani S
[Anemia as a risk factor for CKD and CVD].
Chronic kidney disease (CKD) is now recognized as a risk factor of both end-stage renal disease (ESRD) and independently cardiovascular disease (CVD). Therefore, a specific renoprotective intervention is strongly recommended, including blood pressure control as well as anemia improvement with erythropoietin stimulating agents (ESAs). Treatment of renal anemia with ESAs has been proved to improve quality of life (QOL) and finally reduce patient mortality. Recently, Silverberg, et al. created a novel clinical entity of Cardio-Renal Anemia (CRA) syndrome, in which anemia plays a key role for worsening both CKD and cardiac performance in a vicious circle. An appropriate and vigorous treatment of anemia has now been accepted to terminate or weaken the circle. Recently, two large-scaled randomized controlled trials were reported, being the CREATE (cardiovascular risk reduction by early anemia treatment with epoetin beta) study and the CHOIR (correction of hemoglobin and outcomes in renal insufficiency) study. They demonstrated that early initiation of ESA treatment and targeting at higher hemoglobin level (near normal level) failed to show the lowering effects for cardiovascular events as compared to a group in which Hb targeting was lower (sub-normal level) in pre-dialysis CKD patients. While there has been many argues in these reports especially about baseline patients characteristics, being a quite high incidence of severe cardiovascular co-morbidity. Thus, further evidences should be accumulated to resolve a proper target level of Hb in ESA treatment. PMID:18788410
Tsuruya, Kazuhiko; Hirakata, Hideki
Autoimmune Polyglandular Syndrome Type 3 with Anorexia
A 71-year-old man with diabetes mellitus visited our hospital with complaints of anorexia and weight loss (12?kg/3 months). He had megaloblastic anemia, cobalamin level was low, and autoantibody to intrinsic factor was positive. He was treated with intramuscular cyanocobalamin, and he was able to consume meals. GAD autoantibody and ICA were positive, and he was diagnosed with slowly progressive type 1 diabetes mellitus (SPIDDM). Thyroid autoantibodies were positive. According to these findings, he was diagnosed with autoimmune polyglandular syndrome type 3 with SPIDDM, pernicious anemia, and Hashimoto's thyroiditis. Extended periods of cobalamin deficiency can cause serious complications such as ataxia and dementia, and these complications may not be reversible if replacement therapy with cobalamin is delayed. Although type 1 diabetes mellitus with coexisting pernicious anemia is very rare in Japan, physicians should consider the possibility of pernicious anemia when patients with diabetes mellitus have cryptogenic anorexia with the finding of significant macrocytosis (MCV?>?100?fL).
Kahara, Toshio; Wakakuri, Hitomi; Takatsuji, Juri; Motoo, Iori; Shima, Kosuke R.; Ishikura, Kazuhide; Usuda, Rika; Noda, Yatsugi
Phagocytosis, Oxidative Burst, and Produced Reactive Species are Affected by Iron Deficiency Anemia and Anemia of Chronic Diseases in Elderly
Iron and oxidative stress have a regulatory interplay. During the oxidative burst, phagocytic cells produce free radicals\\u000a such as hypochlorous acid (HOCl). Nevertheless, scarce studies evaluated the effect of either iron deficiency anemia (IDA)\\u000a or anemia of chronic disease (ACD) on phagocyte function in the elderly. The aim of the present study was to determine the\\u000a oxidative burst, phagocytosis, and
I. M. M. Paino; J. C. Miranda; C. M. Marzocchi-Machado; E. J. Cesarino; F. A. de Castro; A. M. de Souza
Erythropoietin May Improve Anemia in Patients with Autoimmune Hemolytic Anemia Associated with Reticulocytopenia
Background Management of patients with autoimmune hemolytic anemia (AIHA) and reticulocytopenia remains challenging. Case Reports Two patients with decompensated AIHA who were receiving immunosuppressive drugs were treated with erythropoietin (EPO). Administration of EPO increased reticulocyte counts and hemoglobin concentrations in both cases. One patient completely recovered following a short course of treatment. Hemolysis could be compensated in the second patient using only mild doses of immunosuppressive drugs in combination with EPO. Conclusion The administration of EPO should be considered in patients with therapy-refractory AIHA, particularly in the presence of reticulocytopenia.
Arbach, Olga; Funck, Robert; Seibt, Frank; Salama, Abdulgabar
Erythropoietin May Improve Anemia in Patients with Autoimmune Hemolytic Anemia Associated with Reticulocytopenia.
BACKGROUND: Management of patients with autoimmune hemolytic anemia (AIHA) and reticulocytopenia remains challenging. CASE REPORTS: Two patients with decompensated AIHA who were receiving immunosuppressive drugs were treated with erythropoietin (EPO). Administration of EPO increased reticulocyte counts and hemoglobin concentrations in both cases. One patient completely recovered following a short course of treatment. Hemolysis could be compensated in the second patient using only mild doses of immunosuppressive drugs in combination with EPO. CONCLUSION: The administration of EPO should be considered in patients with therapy-refractory AIHA, particularly in the presence of reticulocytopenia. PMID:22851939
Arbach, Olga; Funck, Robert; Seibt, Frank; Salama, Abdulgabar
Distinct roles for hepcidin and interleukin-6 in the recovery from anemia in mice injected with heat-killed Brucella abortus.
Anemia of inflammation (AI) is commonly observed in chronic inflammatory states and may hinder patient recovery and survival. Induction of hepcidin, mediated by interleukin 6, leads to iron-restricted erythropoiesis and anemia. Several translational studies have been directed at neutralizing hepcidin overexpression as a therapeutic strategy against AI. However, additional hepcidin-independent mechanisms contribute to AI, which are likely mediated by a direct effect of inflammatory cytokines on erythropoiesis. In this study, we used wild-type, hepcidin knockout (Hamp-KO) and interleukin 6 knockout (IL-6-KO) mice as models of AI. AI was induced with heat-killed Brucella abortus (BA). The distinct roles of iron metabolism and inflammation triggered by interleukin 6 and hepcidin were investigated. BA-treated wild-type mice showed increased expression of hepcidin and inflammatory cytokines, as well as transitory suppression of erythropoiesis and shortened red blood cell lifespan, all of which contributed to the severe anemia of these mice. In contrast, BA-treated Hamp-KO or IL-6-KO mice showed milder anemia and faster recovery compared with normal mice. Moreover, they exhibited different patterns in the development and resolution of anemia, supporting the notion that interleukin 6 and hepcidin play distinct roles in modulating erythropoiesis in AI. PMID:24357729
Gardenghi, Sara; Renaud, Tom M; Meloni, Alessandra; Casu, Carla; Crielaard, Bart J; Bystrom, Laura M; Greenberg-Kushnir, Noa; Sasu, Barbra J; Cooke, Keegan S; Rivella, Stefano
Association between Anemia and COPD in Iranian Population
Background and Aim Chronic obstructive pulmonary disease (COPD) is one of the major causes of morbidity and mortality in adults. Anemia is known as comorbidity in many chronic diseases that can increase morbidity and mortality of COPD. Recent studies have shown that anemia may be more prevalent than expected in COPD patients and can increase disabilities of COPD. In this study we have evaluated the correlation between anemia and the severity of COPD in patients referred to teaching hospitals of the Tehran University of Medical Sciences (TUMS), Tehran, Iran. Materials and Methods In this cross-sectional study the severity of COPD in 760 patients with dyspnea who referred to teaching hospitals of Tehran University of Medical Sciences and 96 stable COPD patients were categorize using a GOLD criteria from mild to moderate, severe and very severe. Anemia was determined as hemoglobin <13 g/dL in men and <12 g/dL in women, respectively. Demographic characteristics, spirometry parameters and laboratory findings were compared between anemic and non-anemic groups using Student t-test and regression tests (SPSS v.18 software). Results The Mean age of patients was 65 � 13.07 years (59.4% male). Overall prevalence of anemia was 27% and there was no correlation between severity of COPD and anemia. Anemic patients were significantly older than non-anemic patients (71.1 � 8.5 years vs. 65.4� 12.8 years; p = 0.030). RBC count of anemic patients were significantly lower than non-anemic group (4.3 � 0.5 vs. 5.02� 0.8 �106/�L; p < 0.001). Erythropoietin levels in anemic group was significantly higher than non-anemic group (16.33�2.43 vs. 10.22 � 2.67 mu/ml; p < 0.001) and there was a significant inverse correlation of hemoglobin vs erythropoietin (r= ?0.8). Conclusion There was a high prevalence of anemia in COPD patients. Anemia can increase disabilities of COPD. Thus, treatment of anemia may improve quality of life in these patients. Further comprehensive studies are needed for determination of exact prevalence of anemia and its physiologic effects in COPD.
Zavarreh, Roshanak Hasheminasab; Zahmatkesh, Mohammad-Mehdi; Vakili, Masood; Shahriari-Ahmadi, Ali; Zohal, Mohammad Ali; Arabi, Mohsen; Mahmoudian, Alireza; Gheisuri, Abbas; Kian, Abdolhamed; Fahimi, Ali
Autoimmune hemolytic anemia in chronic mucocutaneous candidiasis.
Chronic mucocutaneous candidiasis is an immunodeficiency disease characterized by T-cell dysregulation and chronic superficial candidal infections. We report on three patients with chronic mucocutaneous candidiasis who developed autoantibodies to erythrocytes. Our first patient, a 19-year-old female, developed autoimmune hemolytic anemia (AIHA) that required multiple courses of treatment, including corticosteroids, intravenous immunoglobulin, and danazol. During the last exacerbation of AIHA, intensive treatment with corticosteroids and intravenous immunoglobulin failed and yet the patient responded to plasmapheresis. Our second patient, a 21-year-old male, developed AIHA which responded to oral corticosteroid therapy. Our third patient, a 6-year-old female without evidence of hemolysis, was found to have erythrocyte autoantibodies on routine screening. These three patients had positive direct antiglobulin tests, and the first patient had both immunoglobulin G (IgG) and IgM erythrocyte autoantibodies, while the remaining two patients had only IgG autoantibody. This is the first report of the association of AIHA with chronic mucocutaneous candidiasis. We suggest that all patients with chronic mucocutaneous candidiasis be screened periodically for erythrocyte autoantibodies. Plasmapheresis, a safe ancillary procedure in the management of AIHA, may be life-saving in some cases. The occurrence of erythrocyte autoantibodies in mucocutaneous candidiasis may be related to immunoregulatory disorders in this disease.
Oyefara, B I; Kim, H C; Danziger, R N; Carroll, M; Greene, J M; Douglas, S D
Fanconi anemia proteins stabilize replication forks
Fanconi anemia (FA) is a recessive genetic disorder characterized by hypersensitivity to crosslinking agents that has been attributed to defects in DNA repair and/or replication. FANCD2 and the FA core complex bind to chromatin during DNA replication; however, the role of FA proteins during replication is unknown. Using Xenopus cell-free extracts, we show that FANCL depletion results in defective DNA replication restart following treatment with camptothecin, a drug that results in DSBs during DNA replication. This defect is more pronounced following treatment with mitomycin C, presumably because of an additional role of the FA pathway in DNA crosslink repair. Moreover, we show that binding of FA core complex proteins during DNA replication follows origin assembly and origin firing and is dependent on the binding of RPA to ssDNA while FANCD2 additionally requires ATR, consistent with FA proteins acting at replication forks. Together, our data suggest that FA proteins play a role in replication restart at collapsed replication forks.
Chien Wang, Lily; Stone, Stacie; Hoatlin, Maureen Elizabeth; Gautier, Jean
[History of the therapy of pernicious anemia].
Increased blood cell regeneration in exsanguinated experimental animals treated either with liver or with aqueous liver extracts was reported by Whipple and by Jeney and Jobling, respectively. These findings stimulated Minot and Murphy to provide evidence for the efficacy of liver against anaemia in clinical studies. After oral administration of liver (45-50 g per day) for 45 patients with anaemia perniciosa improvement of the hematological status was demonstrated. Consequently, for proving the therapeutic value of liver therapy Whipple, Minot and Murphy received Nobel price in 1934. The isolation of the antianemic factor from the liver has been succeeded in 1948 and designated as vitamin B12. At the same time Lucy Wills applied yeast for the treatment of pregnant women with anemia related to undernourishment. The conclusions of this study inspired the discovery of folate. The detailed investigation of the mode of action of vitamin B12 and folate enriched our knowledge in the area of pathophysiology and extended the clinical application of these two drugs. PMID:24161600
Jeney, Andr�s
Aplastic anemia: possible associations with lymphoproliferative neoplasms.
Aplastic anemia (AA) may precede, co-occur, or follow a lymphoproliferative neoplasm. The best molecularly clarified scenario is that of concurrent AA and unsuspected (occult) T-cell large granular lymphocyte leukemia. Several reported cases of AA and concurrent small B-cell lymphomas/leukemias and Hodgkin lymphomas suggest also a possible link to simultaneous or preceding AA that might be sought in an antineoplastic immunological attempt to 'eradicate' the underlying malignant clone. The 'immuno-deregulatory' potential and the direct cytotoxicity of regimens used for lymphoma therapy might be able to trigger AA in cases evolving after lymphoma treatment too. Alternative explanations of AA associated with lymphoproliferative disorders might be particular (immuno-)genetic patient backgrounds predisposing to both AA and lymphoid neoplasms or exposures to environmental factors, increasing the risk for both diseases. Finally, the most common causal relationship of AA and lymphoma is that of immunosuppression- or allogeneous hematopoietic stem cell transplantation-associated posttransplantational lymphoproliferative disorders in AA patients, who are treated in the respective manner. As all above scenarios are differently (specifically) therapeutically approachable and accompanied by diverse outcomes, they should be actively sought for and diagnosed as precisely as possible. This review summarizes the current knowledge on associations between AA and lymphoproliferative neoplasms. PMID:24750685
Tzankov, A; Medinger, M
Anemia or low hemoglobin levels preceding Parkinson disease
Objective: It has been suggested that anemia may be a risk factor for dementia, for restless legs syndrome, and for Parkinson disease (PD). Thus, we investigated the association of anemia with the subsequent risk of PD using a case-control study design. Methods: We used the medical records�linkage system of the Rochester Epidemiology Project to identify 196 subjects who developed PD in Olmsted County, Minnesota, from 1976 through 1995. Each incident case was matched by age (�1 year) and sex to a general population control. We reviewed the complete medical records of cases and controls in the system to detect anemia defined using the World Health Organization criteria. Results: Anemia was more common in the history of cases than of controls (odds ratio 2.00, 95% confidence interval 1.31�3.06, p = 0.001). The association remained significant after adjustment for cigarette smoking, exposure to pesticides, or hysterectomy (in women). The association was not significantly different between men and women, or between PD patients with or without rest tremor. Analyses stratified by time of onset of anemia showed a greater association for anemia that started 20 to 29 years before the onset of PD. Hemoglobin levels were slightly but consistently lower in cases than in controls across all ages. Conclusions: Our results support an association between anemia experienced early in life and the later development of Parkinson disease. The interpretation of this association remains uncertain. GLOSSARY AD = Alzheimer disease; CI = confidence interval; OR = odds ratio; PD = Parkinson disease; RLS = restless legs syndrome; WHO = World Health Organization.
Savica, R; Grossardt, B R.; Carlin, J M.; Icen, M; Bower, J H.; Ahlskog, J E.; Maraganore, D M.; Steensma, D P.; Rocca, W A.
Infections and inequalities: anemia in AIDS, the disadvantages of poverty
Objective To study anemia in AIDS patients and its relation with socioeconomic, employment status and educational levels. Methods A total number of 442 patients who visited the Infectious Diseases University Hospital in Buenos Aires, Argentina were included in the study. Patients were dividied into two groups, i.e. one with anemia and the other without anemia. Anemia epidemiology and its relationship with educational level, housing, job situation, monthly income, total daily caloric intake and weekly intake of meat were evaluated. Results Anemia was found in 228 patients (54%). Comparing patients with or without anemia, a statistically significant difference was found (P<0.000?1) in those whose highest educational level reached was primary school, who lived in a precarious home, who had no stable job or were unable to work, whose income was less than 30 dollars per month, whose meat consumption was less than twice a week or received less than 8?000 calories per day. Conclusions The high prevalence of anemia found in poor patients with AIDS suggests that poverty increases the risk to suffer from this hematological complication. The relationship between economic development policies and AIDS is complex. Our results seem to point to the fact that AIDS epidemic may affect economic development and in turn be affected by it. If we consider that AIDS affects the economically active adult population, despite recent medical progress it usually brings about fatal consequences, especially within the poorest sectors of society where the disease reduces the average life expectancy, increases health care demand and tends to exacerbate poverty and iniquity.
Gonzalez, Lucia; Seley, Celeste; Martorano, Julieta; Garcia-Moreno, Isabella; Troncoso, Alcides
New anemia therapies: translating novel strategies from bench to bedside.
Recombinant human erythropoietin (epoetin) has been available for the treatment of renal anemia for more than 20 years, and within the last decade two molecularly engineered analogues darbepoetin alfa and pegylated epoetin beta were introduced as longer-acting erythropoiesis-stimulating agents. Recently, newer strategies for correcting anemia have been explored, some of which remain in the laboratory while others are translating across into clinical trials. Peginesatide has completed phase 3 clinical trials for the treatment of anemia associated with chronic kidney disease; this molecule is immunologically distinct from the erythropoietic proteins, with no cross-reactivity with anti-erythropoietin antibodies. HIF (hypoxia inducible factor) stabilization involves the pharmacologic inhibition of prolyl hydroxylation of HIF-? (the major transcription factor controlling erythropoietin gene expression), thereby preventing its degradation in the proteasome. Hepcidin is the master regulator of iron metabolism, and this peptide is upregulated in inflammatory conditions, including uremia; its antagonism has been shown to cause amelioration of inflammatory anemia in animal models. For the time being, erythropoiesis-stimulating agent therapy remains the mainstay of anemia management in chronic kidney disease, but it is possible that one or more of the strategies discussed in this review may have a future role in the treatment of this condition. PMID:22192713
Macdougall, Iain C
Chk1 Haploinsufficiency Results in Anemia and Defective Erythropoiesis
Background Erythropoiesis is a highly regulated and well-characterized developmental process responsible for providing the oxygen transport system of the body. However, few of the mechanisms involved in this process have been elucidated. Checkpoint Kinase 1 (Chk1) is best known for its role in the cell cycle and DNA damage pathways, and it has been shown to play a part in several pathways which when disrupted can lead to anemia. Methodology/Principal Findings Here, we show that haploinsufficiency of Chk1 results in 30% of mice developing anemia within the first year of life. The anemic Chk1+/? mice exhibit distorted spleen and bone marrow architecture, and abnormal erythroid progenitors. Furthermore, Chk1+/? erythroid progenitors exhibit an increase in spontaneous DNA damage foci and improper contractile actin ring formation resulting in aberrant enucleation during erythropoiesis. A decrease in Chk1 RNA has also been observed in patients with refractory anemia with excess blasts, further supporting a role for Chk1 in clinical anemia. Conclusions/Significance Clinical trials of Chk1 inhibitors are currently underway to treat cancer, and thus it will be important to track the effects of these drugs on red blood cell development over an extended period. Our results support a role for Chk1 in maintaining the balance between erythroid progenitors and enucleated erythroid cells during differentiation. We show disruptions in Chk1 levels can lead to anemia.
Chen, Alice J.; Goodell, Margaret A.; Rosen, Jeffrey M.
Inflammation associated anemia and ferritin as disease markers in SLE
Introduction In a recent screening to detect biomarkers in systemic lupus erythematosus (SLE), expression of the iron storage protein, ferritin, was increased. Given that proteins that regulate the storage, transfer and release of iron play an important role in inflammation, this study aims to determine the serum and urine levels of ferritin and of the iron transfer protein, transferrin, in lupus patients and to correlate these levels with disease activity, inflammatory cytokine levels and markers of anemia. Methods A protein array was utilized to measure ferritin expression in the urine and serum of SLE patients and healthy controls. To confirm these results as well as the role of the iron transfer pathway in SLE, ELISAs were performed to measure ferritin and transferrin levels in inactive or active SLE patients and healthy controls. The relationship between ferritin/transferrin levels and inflammatory markers and anemia was next analyzed. Results Protein array results showed elevated ferritin levels in the serum and urine of lupus patients as compared to controls, which were further validated by ELISA. Increased ferritin levels correlated with measures of disease activity and anemia as well as inflammatory cytokine titers. Though active SLE patients had elevated urine transferrin, serum transferrin was reduced. Conclusion Urine ferritin and transferrin levels are elevated significantly in SLE patients and correlate with disease activity, bolstering previous reports. Most importantly, these changes correlated with the inflammatory state of the patients and anemia of chronic disease. Taken together, altered iron handling, inflammation and anemia of chronic disease constitute an ominous triad in SLE.
New strategies for managing anemia of chronic kidney disease.
Anemia is a prevalent and premature comorbidity in chronic kidney disease (CKD) and associated with multiple adverse clinical consequences including increased mortality. Today Erythropoiesis-stimulating agents (ESAs), together with iron supplementation, are the cornerstones of therapy for correcting anemia in CKD patients. As no generally accepted dosing algorithms for these agents exist, current recommendations prefer a partial but not complete anemia correction thereby favoring a more conservative and individualized ESA and iron dosing. Here we discuss in detail current evidence derived from large randomized trials about the proposed hemoglobin targets to aim at in CKD and End-Stage renal disease patients and report recent data from the thriving European market of biosimilar erythropoietins. We summarize promising investigational strategies including peginesatide and prolyl hydroxylase inhibitors for stabilization of the hypoxia inducible factor and provide a clinical review of novel high dose iron formulations like ferumoxytol or iron (III)-carboxymaltose. Taking these findings together, treatment strategies for anemia of CKD have got considerably more complicated so that a careful balance between maximization of patient`s quality of life while minimizing all risks associated with anemia treatment has become a major task of current nephrology. PMID:22642238
Schmid, Holger; Schiffl, Helmut; Lederer, Stephan R
Erythro-megakaryocytic transcription factors associated with hereditary anemia.
Most heritable anemias are caused by mutations in genes encoding globins, red blood cell (RBC) membrane proteins, or enzymes in the glycolytic and hexose monophosphate shunt pathways. A less common class of genetic anemia is caused by mutations that alter the functions of erythroid transcription factors (TFs). Many TF mutations associated with heritable anemia cause truncations or amino acid substitutions, resulting in the production of functionally altered proteins. Characterization of these mutant proteins has provided insights into mechanisms of gene expression, hematopoietic development, and human disease. Mutations within promoter or enhancer regions that disrupt TF binding to essential erythroid genes also cause anemia and heritable variations in RBC traits, such as fetal hemoglobin content. Defining the latter may have important clinical implications for de-repressing fetal hemoglobin synthesis to treat sickle cell anemia and ? thalassemia. Functionally important alterations in genes encoding TFs or their cognate cis elements are likely to occur more frequently than currently appreciated, a hypothesis that will soon be tested through ongoing genome-wide association studies and the rapidly expanding use of global genome sequencing for human diagnostics. Findings obtained through such studies of RBCs and associated diseases are likely generalizable to many human diseases and quantitative traits. PMID:24652993
Crispino, John D; Weiss, Mitchell J
Iron deficiency anemia in patients with inflammatory bowel disease
Iron deficiency anemia is the most common form of anemia worldwide, caused by poor iron intake, chronic blood loss, or impaired absorption. Patients with inflammatory bowel disease (IBD) are increasingly likely to have iron deficiency anemia, with an estimated prevalence of 36%�76%. Detection of iron deficiency is problematic as outward signs and symptoms are not always present. Iron deficiency can have a significant impact on a patient�s quality of life, necessitating prompt management and treatment. Effective treatment includes identifying and treating the underlying cause and initiating iron replacement therapy with either oral or intravenous iron. Numerous formulations for oral iron are available, with ferrous fumarate, sulfate, and gluconate being the most commonly prescribed. Available intravenous formulations include iron dextran, iron sucrose, ferric gluconate, and ferumoxytol. Low-molecular weight iron dextran and iron sucrose have been shown to be safe, efficacious, and effective in a host of gastrointestinal disorders. Ferumoxytol is the newest US Food and Drug Administration-approved intravenous iron therapy, indicated for iron deficiency anemia in adults with chronic kidney disease. Ferumoxytol is also being investigated in Phase 3 studies for the treatment of iron deficiency anemia in patients without chronic kidney disease, including subgroups with IBD. A review of the efficacy and safety of iron replacement in IBD, therapeutic considerations, and recommendations for the practicing gastroenterologist are presented.
Goldberg, Neil D
Red blood cell zinc protoporphyrin to evaluate anemia risk in deferred blood donors.
A large proportion of potential blood donors who are deferred are inappropriate to be donors because of unreliable predonation anemia screening methods. In this study, venous hemoglobin concentrations were within acceptable limits in 71% of 275 anemia deferrals. Red blood cell zinc protoporphyrin (RBC ZP) was evaluated as a screening test to improve the accuracy of detecting anemia in prospective blood donors. The frequency of abnormally low venous hemoglobin concentrations in anemia deferrals having fingerstick capillary microhematocrit (MH) values within 3% of the minimum requirement, together with normal RBC ZP levels (less than 53 micrograms/dL [0.943 mumol/L] RBC), was 2%, and not significantly different from the prevalence of venous anemia observed in eligible blood donors. Anemia deferrals with elevated RBC ZP results had a significantly increased rate of iron depletion and anemia. Capillary RBC ZP measurements in combination with the MH test have the potential to safely decrease inappropriate anemia deferrals. PMID:3826015
Schifman, R B; Rivers, S L
Inborn anemias in mice. Progress report, 1 August 1979-15 July 1980
Four macrocytic anemias, four hemolytic anemias, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, an ..cap alpha..-thalassemia, and a new target-cell anemia are under investigation in mice. Each of these blood dyscrasias is caused by the action of a unique mutant gene, which determines the structure of different intracellular molecules, and thus controls a different metabolic process. Thus the wide range of different hereditary anemias has considerable potential for uncovering many different aspects of hemopoietic homeostatic mechanisms in the mouse. Each anemia is studied through: (a) characterization of peripheral blood values; (b) determinations of radiosensitivity under a variety of conditions; (c) measurements of iron metabolism and heme synthesis; (d) histological and biochemical study of blood-forming tissue; (e) functional tests of the stem cell component; (f) examination of responses to erythroid stimuli; and (g) transplantation of tissue between individuals of differently affected genotypes.
Bernstein, S.E.; Russell, E.S.
Evaluation of concentration and storage effects of mitomycin C in the diagnosis of Fanconi anemia among idiopatic aplastic anemia patients
BACKGROUND: Fanconi anemia (FA) is a rare autosomal recessive genetic disorder that shows an increased sensitivity to the intercalating agents such as mytomycin C (MMC), measured as chromosomal aberrations. This study was conducted to differentiate between FA and �idiopathic� aplastic anemia on the basis of induced chromosomal breakage study with MMC. MATERIALS AND METHODS: MMC stress tests in different final concentrations of 20 and 50 ng/ml of MMC were conducted on peripheral blood lymphocytes from 32 patients with aplastic anemia and 13 healthy controls. Fifty nanograms per milliliter of MMC from old, fresh and frozen stocks was used to check the sensitivity of diagnosis on FA-diagnosed patients. Statistical analysis was used for the assessment of aberrations, including chromatid and chromosome breaks and exchanges. RESULTS: Eight patients (25%) with a very high percentage of chromosomal breakage were diagnosed as FA on the basis of the chromosomal breakage study. Six of these patients exhibited congenital anomalies at presentation, while another two lacked such anomalies or had minor physical problems. Freshly made MMC has shown more sensitivity to detect FA patients compared with frozen or 1-week-old MMC stock. CONCLUSIONS: The study indicates that freshly made MMC stress test provides an unequivocal means of differentiation between FA and �idiopathic� aplastic anemia. Further, the study, the first of its kind from Iran, stresses on the need for conducting this test in all aplastic anemia cases, even those without congenital anomalies, for accurate and timely diagnosis of FA to implement appropriate therapy.
Mozdarani, H.; Ashtiani, K. Abed; Mohseni-Meybodi, A.
Prevention of anemia alleviates heart hypertrophy in copper deficient rats
The present investigation was designed to examine the role of anemia in the cardiomegaly and myocardial pathology of copper deficiency. Weanling rats were fed a copper deficient diet containing either starch (ST) or fructose (FRU) for five weeks. Six rats consuming the FRU diet were intraperitoneally injected once a week with 1.0 ml/100g bw of packed red blood cells (RBC) obtained from copper deficient rats fed ST. FRU rats injected with RBC did not develop anemia. Additionally, none of the injected rats exhibited heart hypertrophy or gross pathology and all survived. In contrast, non-injected FRU rats were anemic, exhibited severe signs of copper deficiency which include heart hypertrophy with gross pathology, and 44% died. Maintaining the hematocrit with RBC injections resulted in normal heart histology and prevented the mortality associated with the fructose x copper interaction. The finding suggest that the anemia associated with copper deficiency contributes to heart pathology.
Lure, M.D.; Fields, M.; Lewis, C.G. (Dept. of Agriculture, Beltsville, MD (United States) Univ. of Maryland, College Park (United States) Georgetown Univ., Washington, DC (United States))
Spontaneous resolution of macrocytic anemia: old disease revisited
We report here on a 60-year-old male with alcohol-related macrocytic anemia. He was hospitalized on three occasions with hemoglobin < 9.0 g/dL and mean corpuscular volume > 130 fL. Careful history taking and observation of his blood status led us to make a correct diagnosis. At the time of each of his admissions, only with bed rest and abstinence from alcohol did our patient dramatically show spontaneous recovery of anemia in association with a rapid decline of serum ?-glutamyl transpeptidase values. It is well recognized that marrow abnormalities in alcoholic patients are reversible. Physicians should be aware that there is a subset of patients with macrocytic anemia that could be improved without medication.
Imashuku, Shinsaku; Kudo, Naoko; Kaneda, Shigehiro
Pure red cell aplasia following autoimmune hemolytic anemia: an enigma.
A 26-year-old previously healthy female presented with a 6-month history of anemia. The laboratory findings revealed hemolytic anemia and direct antiglobulin test was positive. With a diagnosis of autoimmune hemolytic anemia (AIHA), prednisolone was started but was ineffective after 1 month of therapy. A bone marrow trephine biopsy revealed pure red cell aplasia (PRCA) showing severe erythroid hypoplasia. The case was considered PRCA following AIHA. This combination without clear underlying disease is rare. Human parvovirus B19 infection was not detected in the marrow aspirate during reticulocytopenia. The patient received azathioprine, and PRCA improved but significant hemolysis was once again documented with a high reticulocyte count. The short time interval between AIHA and PRCA phase suggested an increased possibility of the evolution of a single disease. PMID:23525059
Saha, M; Ray, S; Kundu, S; Chakrabarti, P
Trends in anemia at initiation of dialysis in the United States
Trends in anemia at initiation of dialysis in the United States.BackgroundAnemia almost invariably develops in patients with chronic renal insufficiency (CRI) and is associated with a wide range of complications. The anemia of CRI can be effectively treated with recombinant human erythropoietin (rHuEPO). Recent studies suggest that the management of anemia of CRI is suboptimal in the United States.MethodsWe examined
Gregorio T. Obrador; Tricia Roberts; Wendy L. St. Peter; Eric Frazier; Brian J. G. Pereira; Allan J. Collins
The Hepcidin-Ferroportin System as a Therapeutic Target in Anemias and Iron Overload Disorders
The review summarizes the current understanding of the role of hepcidin and ferroportin in normal iron homeostasis and its disorders. It further discusses the various approaches to therapeutic targeting of hepcidin and ferroportin in iron overload diseases (mainly hereditary hemochromatosis and ?-thalassemia) and iron-restrictive anemias (anemias associated with infections, inflammatory disorders and certain malignancies, anemia of chronic kidney diseases, iron-refractory iron deficiency anemia).
Ganz, Tomas; Nemeth, Elizabeta
Prevalence of HIV and anemia among pregnant women
Background: Human immunodeficiency virus (HIV) prevalence is high among rural dwellers and pregnant women. Aims: This study aims to determine the prevalence of HIV and anemia among pregnant women attending antenatal clinic in rural community of Okada, Edo State, Nigeria. Patients and Methods: Anticoagulated blood and sera samples were obtained from 480 women consisting of 292 pregnant and 188 non-pregnant women. Antibodies to HIV were detected in the sera samples and hemoglobin concentration of the anticoagulated blood specimens were determined using standard techniques. Anemia was defined as hemoglobin concentration <11g/dl for pregnant women and <12g/dl for non-pregnant women. Results: Pregnancy was not a risk factor for acquiring HIV infection (pregnant vs. non-pregnant: 10.2% vs. 13.8%; OR=0.713, 95% CI=0.407, 1.259, P = 0.247). The prevalence of HIV was significantly (P = 0.005 and P = 0.025) higher in the age group 10-20 years and 21 � 30 years among pregnant and non-pregnant women respectively. Pregnancy was a risk factor for acquiring anemia (OR=1.717, 95% CI=1.179, 2.500, P = 0.006). Only the age of pregnant women significantly (P = 0.004) affected the prevalence of anemia inversely. Conclusion: The prevalence of HIV and anemia among pregnant women were 10.2% and 49.3% respectively. Pregnancy was associated with anemia. Interventions by appropriate agencies are advocated to reduce associated sequelae.
Oladeinde, Bankole Henry; Phil, Richard Omoregie M.; Olley, Mitsan; Anunibe, Joshua A.
Anemia and red blood cell transfusion in neurocritical care
Introduction Anemia is one of the most common medical complications to be encountered in critically ill patients. Based on the results of clinical trials, transfusion practices across the world have generally become more restrictive. However, because reduced oxygen delivery contributes to 'secondary' cerebral injury, anemia may not be as well tolerated among neurocritical care patients. Methods The first portion of this paper is a narrative review of the physiologic implications of anemia, hemodilution, and transfusion in the setting of brain-injury and stroke. The second portion is a systematic review to identify studies assessing the association between anemia or the use of red blood cell transfusions and relevant clinical outcomes in various neurocritical care populations. Results There have been no randomized controlled trials that have adequately assessed optimal transfusion thresholds specifically among brain-injured patients. The importance of ischemia and the implications of anemia are not necessarily the same for all neurocritical care conditions. Nevertheless, there exists an extensive body of experimental work, as well as human observational and physiologic studies, which have advanced knowledge in this area and provide some guidance to clinicians. Lower hemoglobin concentrations are consistently associated with worse physiologic parameters and clinical outcomes; however, this relationship may not be altered by more aggressive use of red blood cell transfusions. Conclusions Although hemoglobin concentrations as low as 7 g/dl are well tolerated in most critical care patients, such a severe degree of anemia could be harmful in brain-injured patients. Randomized controlled trials of different transfusion thresholds, specifically in neurocritical care settings, are required. The impact of the duration of blood storage on the neurologic implications of transfusion also requires further investigation.
Kramer, Andreas H; Zygun, David A
Anemia in celiac disease is multifactorial in etiology.
Anemia in celiac disease (CD) has been attributed to nutritional deficiencies; however, the clinical manifestations of CD have changed with nongastrointestinal presentations predominating. We collected hematologic parameters from a cohort of patients seen at a tertiary care center for CD to assess the characteristics of anemia in this population. Hematological parameters measured
Harper, Jason W; Holleran, Stephen F; Ramakrishnan, Rajasehkar; Bhagat, Govind; Green, Peter H R
Red blood cell vesiculation in hereditary hemolytic anemia
Hereditary hemolytic anemia encompasses a heterogeneous group of anemias characterized by decreased red blood cell survival because of inherited membrane, enzyme, or hemoglobin disorders. Affected red blood cells are more fragile, less deformable, and more susceptible to shear stress and oxidative damage, and show increased vesiculation. Red blood cells, as essentially all cells, constitutively release phospholipid extracellular vesicles in vivo and in vitro in a process known as vesiculation. These extracellular vesicles comprise a heterogeneous group of vesicles of different sizes and intracellular origins. They are described in literature as exosomes if they originate from multi-vesicular bodies, or as microvesicles when formed by a one-step budding process directly from the plasma membrane. Extracellular vesicles contain a multitude of bioactive molecules that are implicated in intercellular communication and in different biological and pathophysiological processes. Mature red blood cells release in principle only microvesicles. In hereditary hemolytic anemias, the underlying molecular defect affects and determines red blood cell vesiculation, resulting in shedding microvesicles of different compositions and concentrations. Despite extensive research into red blood cell biochemistry and physiology, little is known about red cell deformability and vesiculation in hereditary hemolytic anemias, and the associated pathophysiological role is incompletely assessed. In this review, we discuss recent progress in understanding extracellular vesicles biology, with focus on red blood cell vesiculation. Also, we review recent scientific findings on the molecular defects of hereditary hemolytic anemias, and their correlation with red blood cell deformability and vesiculation. Integrating bio-analytical findings on abnormalities of red blood cells and their microvesicles will be critical for a better understanding of the pathophysiology of hereditary hemolytic anemias.
Alaarg, Amr; Schiffelers, Raymond M.; van Solinge, Wouter W.; van Wijk, Richard
The effects of Spirulina on anemia and immune function in senior citizens
Anemia and immunological dysfunction (i.e. immunosenescence) are commonly found in older subjects and nutritional approaches are sought to counteract these phenomena. Spirulina is a filamentous and multicellular bule-green alga capable of reducing inflammation and also manifesting antioxidant effects. We hypothesized that Spirulina may ameliorate anemia and immunosenescence in senior citizens with a history of anemia. We enrolled 40 volunteers of
Carlo Selmi; Patrick SC Leung; Laura Fischer; Bruce German; Chen-Yen Yang; Thomas P Kenny; Gerry R Cysewski; M Eric Gershwin
Severe anemia associated with Mycoplasma wenyonii infection in a mature cow
The clinical findings, diagnostic tests, and treatment of clinical anemia in a mature Angus cow infected with the hemoplasma Mycoplasma wenyonii are described. Mycoplasma wenyonii has been previously reported to cause clinical anemia in young or splenectomized cattle; however, infection has not been associated with severe anemia in mature animals.
Genova, Suzanne G.; Streeter, Robert N.; Velguth, Karen E.; Snider, Timothy A.; Kocan, Katherine M.; Simpson, Katharine M.
Assessment of Anemia Knowledge, Attitudes and Behaviors among Pregnant Women in Sierra Leone
ERIC Educational Resources Information Center
Introduction: Iron deficiency anemia prevalence of pregnant Sierra Leone women currently is reported to be 59.7%. Anemia is considered to be a direct cause of 3-7% of maternal deaths and an indirect cause of 20-40% of maternal deaths. This study explores knowledge, attitudes, and behaviors of urban pregnant Sierra Leone women regarding anemia.�
M'Cormack, Fredanna A. D.; Drolet, Judy C.
Anemia and iron deficiency in heart failure: mechanisms and therapeutic approaches
Anemia and iron deficiency are common in patients with heart failure (HF), and are associated with worse symptoms and adverse outcomes in this population. Although the two can occur together, anemia in HF is often not caused by iron deficiency, and iron deficiency can be present without causing anemia. Erythropoiesis-stimulating agents have been investigated extensively in the past few years
Stefan D. Anker; Piotr Ponikowski; Iain C. Macdougall; Dirk J. van Veldhuisen
Diagnosis and management of iron deficiency anemia in patients with IBD
Anemia is the most prevalent extraintestinal complication of IBD. It can affect quality of life and ability to work, and can also increase the hospitalization rate in patients with IBD. Although the causes of anemia in IBD are multifactorial, iron deficiency anemia (IDA) is the most common. Assessment of the iron status of patients who have a condition associated with
Franz Hartmann; Axel U. Dignass; J�rgen Stein
An unusual case of aplastic anemia caused by temozolomide.
Radiotherapy and concomitant/adjuvant therapy with temozolomide are a common treatment regimen for children and adults with high-grade glioma. Although temozolomide is generally safe, it can rarely cause life-threatening complications. Here we report a case of a 31-year-old female patient who underwent surgical resection followed by radiotherapy plus concomitant temozolomide. She developed pancytopenia after adjuvant treatment with temozolomide. A bone marrow aspiration and biopsy showed hypocellularity with very few erythroid and myeloid cells, consistent with aplastic anemia. In the English literature, aplastic anemia due to temozolomide is extremely rare. PMID:21209809
Comez, Gazi; Sevinc, Alper; Sever, Ozlem Nuray; Babacan, Taner; Sar?, Ibrahim; Camci, Celalettin
[Anesthetic considerations in sickle cell anemia: a case report].
Sickle cell anemia is the most common hemoglobinopathy. Advances in therapeutic techniques and anesthetic procedures have led to a considerable increase in the success of surgical procedures in these patients. We report the case of a 16-year-old black boy diagnosed with sickle cell anemia and beta-thalassemia who presented with chronic osteomyelitis of the tibia. He was scheduled for debridement of the lesion and musculocutaneous flap repair. We emphasize the importance of communication between anesthesiologists, surgeons, and hematologists in the perioperative period in order to determine the risk of complications and anticipate them. PMID:19725348
Fern�ndez-Mer�, L A; Sopena-Zubir�a, L A; Alvarez-Blanco, M
Second trimester maternal serum inhibin-A in fetal anemia secondary to hemoglobin Bart's disease.
Abstract Objective: To compare the levels of inhibin-A between pregnancies with fetal anemia secondary to Hb Bart's disease and pregnancies with normal non-anemic fetuses. Methods: Sixty-five pregnancies at risk of fetal Hb Bart's disease scheduled for cordocentesis at 18-22 weeks were prospectively recruited into the study. Inhibin-A levels were measured from maternal blood drawn before cordocentesis. Fetal blood samples were collected for fetal Hb typing and hemoglobin (Hb) levels. Results: Maternal serum inhibin-A was significantly higher in women with fetal Hb Bart's disease than those with unaffected fetuses (1.03?MoM (multiple of median) and 0.75 MoM, respectively, p?=?0.001). The relationship between maternal serum inhibin-A and fetal Hb level was a quadratic equation; inhibin-A?=?5.248?-?9.415(Hb)?+?4.919(Hb)(2) (r(2)?=?0.274, p?0.001). Maternal serum inhibin-A did not correlate with cardiomegaly but was significantly associated with placental thickness; inhibin-A?=?1.372?-?0.751(Pl)?+?0.214(Pl)(2) (r(2)?=?0.237, p?=?0.007). Conclusions: Maternal serum inhibin-A levels were significantly higher in pregnancies with fetal Hb Bart's disease. The elevation of inhibin-A was likely to be a consequence of fetal anemia and placentomegaly. Since inhibin-A is commonly used as a component of quadruple test; the calculated risk of Down's syndrome may be unreliable in pregnancies with fetal Hb Bart's disease or possible fetal anemia. PMID:24107149
Tongprasert, Fuanglada; Srisupundit, Kasemsri; Luewan, Suchaya; Tongsong, Theera
Chloroquine and Its Derivatives Exacerbate B19V-Associated Anemia by Promoting Viral Replication
Background An unexpectedly high seroprevalence and pathogenic potential of human parvovirus B19 (B19V) have been observed in certain malaria-endemic countries in parallel with local use of chloroquine (CQ) as first-line treatment for malaria. The aims of this study were to assess the effect of CQ and other common antimalarial drugs on B19V infection in vitro and the possible epidemiological consequences for children from Papua New Guinea (PNG). Methodology/Principal Findings Viral RNA, DNA and proteins were analyzed in different cell types following infection with B19V in the presence of a range of antimalarial drugs. Relationships between B19V infection status, prior 4-aminoquinoline use and anemia were assessed in 200 PNG children <10 years of age participating in a case-control study of severe infections. In CQ-treated cells, the synthesis of viral RNA, DNA and proteins was significantly higher and occurred earlier than in control cells. CQ facilitates B19V infection by minimizing intracellular degradation of incoming particles. Only amodiaquine amongst other antimalarial drugs had a similar effect. B19V IgM seropositivity was more frequent in 111 children with severe anemia (hemoglobin <50 g/L) than in 89 healthy controls (15.3% vs 3.4%; P?=?0.008). In children who were either B19V IgM or PCR positive, 4-aminoquinoline use was associated with a significantly lower admission hemoglobin concentration. Conclusions/Significance Our data strongly suggest that 4-aminoquinoline drugs and their metabolites exacerbate B19V-associated anemia by promoting B19V replication. Consideration should be given for choosing a non-4-aminoquinoline drug to partner artemisinin compounds in combination antimalarial therapy.
Bonsch, Claudia; Kempf, Christoph; Mueller, Ivo; Manning, Laurens; Laman, Moses; Davis, Timothy M. E.; Ros, Carlos
Fanconi Anemia Links Reactive Oxygen Species to Insulin Resistance and Obesity
Abstract Aims: Insulin resistance is a hallmark of obesity and type 2 diabetes. Reactive oxygen species (ROS) have been proposed to play a causal role in insulin resistance. However, evidence linking ROS to insulin resistance in disease settings has been scant. Since both oxidative stress and diabetes have been observed in patients with the Fanconi anemia (FA), we sought to investigate the link between ROS and insulin resistance in this unique disease model. Results: Mice deficient for the Fanconi anemia complementation group A (Fanca) or Fanconi anemia complementation group C (Fancc) gene seem to be diabetes-prone, as manifested by significant hyperglycemia and hyperinsulinemia, and rapid weight gain when fed with a high-fat diet. These phenotypic features of insulin resistance are characterized by two critical events in insulin signaling: a reduction in tyrosine phosphorylation of the insulin receptor (IR) and an increase in inhibitory serine phosphorylation of the IR substrate-1 in the liver, muscle, and fat tissues from the insulin-challenged FA mice. High levels of ROS, spontaneously accumulated or generated by tumor necrosis factor alpha in these insulin-sensitive tissues of FA mice, were shown to underlie the FA insulin resistance. Treatment of FA mice with the natural anti-oxidant Quercetin restores IR signaling and ameliorates the diabetes- and obesity-prone phenotypes. Finally, pairwise screen identifies protein-tyrosine phosphatase (PTP)-? and stress kinase double-stranded RNA-dependent protein kinase (PKR) that mediate the ROS effect on FA insulin resistance. Innovation: These findings establish a pathogenic and mechanistic link between ROS and insulin resistance in a unique human disease setting. Conclusion: ROS accumulation contributes to the insulin resistance in FA deficiency by targeting both PTP-? and PKR. Antioxid. Redox Signal. 00, 000�000.
Li, Jie; Sipple, Jared; Maynard, Suzette; Mehta, Parinda A.; Rose, Susan R.; Davies, Stella M.
Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kr?ppel-like factor
Studies of mouse models of anemia have long provided fundamental insights into red blood cell formation and function. Here we show that the semidominant mouse mutation Nan (�neonatal anemia�) carries a single amino acid change (E339D) within the second zinc finger of the erythroid Kr�ppel-like factor (EKLF), a critical erythroid regulatory transcription factor. The mutation alters the DNA-binding specificity of EKLF so that it no longer binds promoters of a subset of its DNA targets. Remarkably, even when mutant Nan and wild-type EKLF alleles are expressed at equivalent levels, the mutant form selectively interferes with expression of EKLF target genes whose promoter elements it no longer binds. This interference yields a distorted genetic output and selective protein deficiencies that differ from those seen in EKLF-heterozygous and EKLF-null red blood cells and presents a unique and unexpected mechanism of inherited disease.
Siatecka, Miroslawa; Sahr, Kenneth E.; Andersen, Sabra G.; Mezei, Mihaly; Bieker, James J.; Peters, Luanne L.
Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia
Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Minimally Differentiated Myeloid Leukemia (M0); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Fanconi Anemia; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies
Inadequate erythropoietin response to anemia: definition and clinical relevance
Summary The development of a specific and sensitive immunoassay for the measurement of serum erythropoietin (s-Epo) allows to improve our understanding of the model of in vivo regulation of erythropoiesis. In most anemias, circulating hemoglobin level determines Epo production which in turn stimulates erythropoietic activity. The disruption of the expected feedback mechanism of Epo production leads to an inadequately low
G. Barosi
Positional Cloning of a Novel Fanconi Anemia Gene, FANCD2
Fanconi anemia (FA) is a genetic disease with birth defects, bone marrow failure, and cancer susceptibility. To date, genes for five of the seven known complementation groups have been cloned. Complementation group D is heterogeneous, consisting of two distinct genes, FANCD1 and FANCD2. Here we report the positional cloning of FANCD2. The gene consists of 44 exons, encodes a novel
Cynthia Timmers; Toshiyasu Taniguchi; James Hejna; Carol Reifsteck; Lora Lucas; Donald Bruun; Matthew Thayer; Barbara Cox; Susan Olson; Alan D. D'Andrea; Robb Moses; Markus Grompe
The prognostic importance of anemia in patients with heart failure
PurposePhysiologic studies have suggested that anemia could adversely affect the cardiovascular condition of patients with heart failure. Yet, the prognostic importance of this treatable condition is not well established by epidemiologic studies. We sought to determine the prognostic value of hematocrit level in a cohort of elderly patients hospitalized with heart failure.
Mikhail Kosiborod; Grace L Smith; Martha J Radford; JoAnne M Foody; Harlan M Krumholz
Effect of 131I on the anemia of hyperthyroidism
Data from the National Thyrotoxicosis Therapy Follow-Up Study (NTTFS) are presented here to document the existence of anemia in hyperthyroidism, a mild and reversible anemia that is simultaneously ameliorated with reversal of the hyperthyroid state. Among 20,600 women entered into the NTTF study with no previous history of hematological disorders, the prevalence of anemia was found to range from 10-15%, appearing to be higher in those selected for treatment with 131I when compared to those selected for surgery. An attempt is made to verify the recent hypothesis that thyroid hormone levels in the supraphysiologic range may suppress erythrogenesis. Two statistically significant regression models are consistent with a hypothesis of thyrotoxic bone marrow suppression. However, both associations are weak enough to suggest that some other physiologic improvement underlies the amelioration of anemia when hyperthyroidism is reversed. The degree of improvement in hematological status is similar for women in both treatment groups. Among 4464 women for whom serial hematological tests are obtained, over 3/4 of anemic patients are no longer anemic after an average 6.2 yr of follow-up. Clinicians are reassured that radioactive iodine exposure causes no further insult to the bone marrow, no matter what the cumulative dosage. The highly fractionated low dose bone marrow exposures to radiation account for the minimal hematological risks of 131I treatment.
Perlman, J.A.; Sternthal, P.M.
Optimizing the management of renal anemia: challenges and new opportunities
Erythropoiesis stimulating agents (ESAs) are the main tool to achieve anemia correction in CKD patients. At present six different ESAs are available: epoetin alpha, epoetin beta, epoetin omega, epoetin delta, darbepoetin alpha, and very recently CERA. From one side the patent of older ESAs have expired, and biosimilars (for the moment only of epoetin alpha) have been approved for use
Francesco Locatelli; Lucia Del Vecchio
Micronutrient deficiencies and anemia among preschool children in rural Vietnam
The prevalence of trace elements deficiencies, vitamin A deficiency, anemia, and their relationships were inves- tigated in a cross sectional study involving 243 children aged from 12 to 72 months in rural Vietnam. Serum lev- els of copper, zinc, selenium and magnesium were determined by inductively coupled plasma mass spectrometer and that of retinol by high performance liquid chromatography. Hemoglobin
Nguyen Van Nhien; Nguyen Cong Khan; Xuan Ninh; Phan Van Huan; Le Thi Hop; Nguyen Thi Lam; Fusao Ota; Tomoki Yabutani; Vu Quynh Hoa; Junko Motonaka; Takeshi Nishikawa; Yutaka Nakaya
A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome
Bloom syndrome (BS) is a genetic disorder associated with dwarfism, immunodeficiency, reduced fertility, and an elevated risk of cancer. To investigate the mechanism of this disease, we isolated from human HeLa extracts three complexes containing the helicase defective in BS, BLM. Interestingly, one of the complexes, termed BRAFT, also contains five of the Fanconi anemia (FA) complementation group proteins (FA
Amom Ruhikanta Meetei; Salvatore Sechi; Michael Wallisch; Dafeng Yang; Mary K. Young; Hans Joenje; Maureen E. Hoatlin; Weidong Wang
Identification of two complementation groups in Fanconi anemia
Considerable variation can be observed in the clinical presentation of Fanconi anemia (FA) patients and in the degree of sensitivity of their cells to DNA damaging agents. We have examined the hypothesis that genetic heterogeneity underlies this variation by testing for complementation in somatic cell hybrids constructed from FA cells. Hybrids were formed by fusing lymphoblastoid cell lines derived from
G. Duckworth-Rysiecki; K. Cornish; C. A. Clarke; M. Buchwald
Sequence Variation in the Fanconi Anemia Gene FAA
Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive syndrome associated with chromosomal instability, hypersensitivity to DNA crosslinking agents, and predisposition to malignancy. The gene for FA complementation group A (FAA) recently has been cloned. The cDNA is predicted to encode a polypeptide of 1,455 amino acids, with no homologies to any known protein that might suggest a function for
Orna Levran; Tamar Erlich; Neiva Magdalena; John J. Gregory; Sat Dev Batish; Peter C. Verlander; Arleen D. Auerbach
Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair
Fanconi anemia (FA) is a recessive disorder characterized by congenital abnormalities, progressive bone-marrow failure, and cancer susceptibility. Cells from FA patients are hypersensitive to agents that produce DNA crosslinks and, after treatment with these agents, have pronounced chromosome breakage and other cytogenetic abnormalities. Eight FANC genes have been cloned, and the encoded proteins interact in a common cellular pathway. DNA-damaging
Koji Nakanishi; Yun-Gui Yang; Andrew J. Pierce; Toshiyasu Taniguchi; Martin Digweed; Alan D. D'Andrea; Zhao-Qi Wang; Maria Jasin
The Deubiquitinating Enzyme USP1 Regulates the Fanconi Anemia Pathway
Protein ubiquitination and deubiquitination are dynamic processes implicated in the regulation of numerous cellular pathways. Monoubiquitination of the Fanconi anemia (FA) protein FANCD2 appears to be critical in the repair of DNA damage because many of the proteins that are mutated in FA are required for FANCD2 ubiquitination. By screening a gene family RNAi library, we identify the deubiquitinating enzyme
Sebastian M. B. Nijman; Tony T. Huang; Annette M. G. Dirac; Thijn R. Brummelkamp; Ron M. Kerkhoven; Alan D. D'Andrea; Ren� Bernards
Hemolytic anemia and metastatic carcinoma: case report and literature review.
Hemolytic anemia can complicate the development of a variety of solid tumors and hematologic malignancies. Although patients may have an established diagnosis with documented metastases, microangiopathic hemolytic anemia (MAHA) can be a presenting feature of an occult malignancy. Prompt diagnosis is essential because conditions that mimic the symptoms of MAHA, including thrombotic thrombocytopenic purpura, have different prognoses and therapeutic options. Although the exact pathogenesis is not yet delineated, we present herein a case of cancer-associated MAHA and discuss the known pathways that can contribute to the initiation and propagation of hemolytic anemia in patients with cancer. The patient is a 69-year-old woman with breast carcinoma that had metastasized to her rectum, urinary bladder, and brain. She eventually developed progressive decline in her functional status, with intermittent epistaxis and melena. The results of laboratory studies revealed hemolytic anemia and thrombocytopenia; results of a bone-marrow biopsy confirmed the involvement by metastatic carcinoma. The patient received red blood cell and platelet transfusions and was discharged to hospice care after clinical stabilization. She died soon thereafter. PMID:24868993
Pendse, Avani A; Edgerly, Claire H; Fedoriw, Yuri
Anemia, Heart Failure and Evidence-Based Clinical management
Anemia is a prevalent comorbidity and marker of a poorer prognosis in patients with heart failure (HF). Its clinical relevance, as well as its pathophysiology and the clinical management of these patients are important subjects in the specialized literature. In the present review, we describe the current concepts on the pathophysiology of anemia in HF, its diagnostic criteria, and the recommendations for iron supplementation. Also, we make a critical analysis of the major studies showing evidences on the benefits of this supplementation. The four main components of anemia are addressed: chronic disease, dilutional, "renal" and malabsorption. In patients with HF, the diagnostic criteria are the same as those used in the general population: serum ferritin levels lower than 30 mcg/L in patients without kidney diseases and lower than 100 mcg/L or serum ferritin levels between 100-299 mcg/L with transferring saturation lower than 20% in patients with chronic kidney diseases. Finally, the therapeutic possibilities for anemia in this specific patient population are discussed.
Pereira, Camila Alves; Roscani, Meliza Goi; Zanati, Silmeia Garcia; Matsubara, Beatriz Bojikian
Behavior of Infants with Iron-Deficiency Anemia.
ERIC Educational Resources Information Center
Compared behavior of 52 Costa Rican 12- to 23-month-olds with iron-deficiency anemia to that of 139 infants with better iron status. Found that iron-deficient infants maintained closer contact with caregivers; showed less pleasure and playfulness; were more wary, hesitant, and easily tired; made fewer attempts at test items; and attended less to�
Lozoff, Betsy; And Others
Fetal splenic size in anemia due to rh-alloimmunization
Objective: To determine whether fetal splenic enlargement predicts anemia in Rh-alloimmunized nonhydropic singleton fetuses.Methods: Splenic circumference was measured before funipuncture in 21 singleton pregnancies on 47 occasions. The spleen was imaged in an axial section of the fetal abdomen close to the level used for measurement of the abdominal circumference. The splenic length and width were measured and the circumference
R Bahado-Singh; U Oz; G Mari; D Jones; M Paidas; L Onderoglu
Anemia, heart failure and evidence-based clinical management.
Anemia is a prevalent comorbidity and marker of a poorer prognosis in patients with heart failure (HF). Its clinical relevance, as well as its pathophysiology and the clinical management of these patients are important subjects in the specialized literature. In the present review, we describe the current concepts on the pathophysiology of anemia in HF, its diagnostic criteria, and the recommendations for iron supplementation. Also, we make a critical analysis of the major studies showing evidences on the benefits of this supplementation. The four main components of anemia are addressed: chronic disease, dilutional, "renal" and malabsorption. In patients with HF, the diagnostic criteria are the same as those used in the general population: serum ferritin levels lower than 30 mcg/L in patients without kidney diseases and lower than 100 mcg/L or serum ferritin levels between 100-299 mcg/L with transferring saturation lower than 20% in patients with chronic kidney diseases. Finally, the therapeutic possibilities for anemia in this specific patient population are discussed. PMID:23917508
Pereira, Camila Alves; Roscani, Meliza Goi; Zanati, Silm�ia Garcia; Matsubara, Beatriz Bojikian
Anemia in heart failure: to treat or not to treat?
Anemia is a prevalent comorbidity in chronic heart failure (CHF). As studies have demonstrated close links between anemia and a poorer prognosis, there has been an interest in developing treatment strategies for this condition. Anemia is closely associated with disease severity and may be secondary to multiple modifiable causes; therefore, the initial strategies should always include a thorough search for etiology and should focus on optimizing heart failure treatment. Recently, more specific therapies have been assessed, namely erythropoiesis-stimulating agents and iron supplementation therapy. Studies evaluating erythropoietin in heart failure have demonstrated conflicting results to date, with smaller, single-center studies seeming to show a clinical benefit and larger, multicenter trials demonstrating no significant effect on clinical outcome aside from improvement in selected quality-of-life indices. Similarly, studies evaluating iron therapy alone in anemic patients with heart failure have so far shown promising results with regard to clinical and quality-of-life outcomes, but these studies are limited in that they involved small patient numbers. Ongoing studies such as the Reduction of Events With Darbepoetin Alfa in Heart Failure (RED-HF), Iron Supplementation in Heart Failure Patients With Anemia (IRON-HF), and Ferinject Assessment in Patients With Iron Deficiency and Chronic Heart Failure (FAIR-HF) trials will determine the value of darbepoetin alfa and intravenous iron replacement therapy in anemic CHF patients. PMID:19026176
Mak, George; Murphy, Niamh F; McDonald, Kenneth
Anemia among Pediatric Critical Care Survivors: Prevalence and Resolution
To determine the incidence of anemia among pediatric critical care survivors and to determine whether it resolves within 6 months of discharge. Design. A prospective observational study. Patients with anemia upon discharge from the pediatric critical care unit (PCCU) underwent in hospital and post hospital discharge followup (4�6 months) for hemoglobin (Hb) levels. Setting. A medical-surgical PCCU in a tertiary care center. Patients. Patients aged 28 days to 18 years who were treated in the PCCU for over 24 hours. Measurements and Main Results. 94 (24%) out of 392 eligible patients were anemic at time of discharge. Patients with anemia were older, median 8.0?yrs [(IQR 1.0�14.4) versus 3.2?yrs (IQR 0.65�9.9) (P < 0.001)], and had higher PeLOD [median 11 (IQR 10�12) versus 1.5 (1�4) (P < 0.001)], and PRISM [median 5 (IQR 2�11) versus 3 (IQR 0�6) (P < 0.001)] scores. The Hb level normalized in 32% of patients before discharge from hospital. Of the 28 patients who completed followup, all had normalization of their Hb in the absence of medical intervention. Conclusions. Anemia is not common among patients discharged from the PCCU and recovers spontaneously within 4�6 months.
Ngo, Quang N.; Matsui, Doreen M.; Singh, Ram N.; Zelcer, Shayna; Kornecki, Alik
IV Iron Effective in Treating Chemotherapy-Induced Anemia
Two studies in the April 1, 2008, Journal of Clinical Oncology found that intravenous iron significantly improves hemoglobin levels in patients taking erythropoietin-stimulating agents (ESAs) for chemotherapy-induced anemia compared with ESAs alone or ESAs plus oral iron.
Hematopoietic cytokine levels and in vitro colony formation assay in fetal anemia.
Fetal anemia causes hydrops fetalis and fetal ascites/hydrothorax, and in severe cases the prognosis is poor. Little other than alloimmunity and viral infections are known as mechanisms causing fetal anemia. The aim of this study was to elucidate any pathogenesis in fetal anemia due to otherwise idiopathic etiology. The levels of three hematopoietic cytokines, IL-3, erythropoietin (EPO), and granulocyte colony-stimulating factor (G-CSF) were measured in blood samples obtained by cordocentesis from six fetuses with anemia (Hb <10.0 g/dl) and 34 fetuses without anemia. Cordocentesis was performed prior to the onset of labor or uterine contractions in all pregnant women. The concentration of IL-3 in fetuses with anemia [M+/-(SD), 8.3 (10.1) pg/ml] was significantly lower than that in fetuses without anemia [59.9 (71.0) pg/ml]. EPO and G-CSF levels were not different between the two groups. In addition, through in vitro colony formation assay, using blood stem cells from two fetuses with severe anemia and three fetuses without anemia, it was found that colony forming unit-erythroid, burst forming unit-erythroid and granulocyte macrophage-colony forming unit were significantly suppressed in blood stem cells from the two fetuses with severe anemia. Thus, the malfunction of differentiation and proliferation of blood stem cells and the decrease of hematopoietic cytokine levels in the fetal circulation may be responsible for the occurrence of fetal anemia. PMID:9834018
Yamada, H; Kato, E H; Furuta, I; Hoshi, N; Koizumi, K; Sawada, K; Fujimoto, S
Darbepoetin alfa treatment for post-renal transplantation anemia during pregnancy.
Anemia is common in patients with chronic kidney disease (CKD) and those who have received a kidney allograft. Anemia is most prevalent in kidney transplant recipients before and immediately after transplantation, but also can occur months after transplantation if the donor kidney begins to fail. Replacement therapy for CKD-related and posttransplantation anemia is effective through the administration of exogenous erythropoiesis-stimulating proteins. Darbepoetin alfa (Aranesp; Amgen Inc, Thousand Oaks, CA) is a unique erythropoiesis-stimulating protein that can be administered at an extended dosing interval relative to recombinant human erythropoietin because of its approximately 3-fold longer serum half-life. Although darbepoetin alfa has been shown to be an effective treatment for patients with anemia of CKD and anemia after kidney transplantation, limited data have been published showing efficacy in treating women with anemia of these conditions during pregnancy. We report a case of successful darbepoetin alfa treatment for severe anemia in a pregnant transplant recipient. PMID:16253714
Goshorn, Janet; Youell, Timothy D
Pharmacodynamic model for chemotherapy-induced anemia in rats
Anticancer agents often cause bone marrow toxicity resulting in progressive anemia which may influence the therapeutic effects of erythropoietic-stimulating agents. The objective of this study was to develop a pharmacodynamic (PD) model to describe chemotherapy-induced anemia in rats. Anemia was induced in male Wistar rats with a single intravenous (i.v.) injection of 60 mg/kg carboplatin. Hematological responses including reticulocytes, red blood cells (RBC), hemoglobin, and endogenous rat erythropoietin (EPO) were measured for up to 4 weeks. A catenary, lifespan-based, indirect response model served as a basic PD model to represent erythroid cellular populations in the bone marrow and blood involved in erythropoiesis. The model assumed that actively proliferating progenitor cells in the bone marrow are sensitive to anti-cancer agents and subject to an irreversible removal process. The removal rate of the target cells is proportional to drug activity concentrations and the cell numbers. An additional RBC loss from the circulation resulting from thrombocytopenia was described by a first-order process. The turnover process of rat EPO and EPO-mediated feedback inhibition mechanism regulated by hemoglobin changes were incorporated. Reticulocyte counts decreased rapidly and reached a nadir by day 3 after administration of carboplatin and returned to the baseline by day 13. This was followed by a gradual increase and the rebound peak occurred at about day 15. The hemoglobin nadir was approximately 9 g/dl observed at about 11�13 days compared to its normal value of 13 g/dl and hemoglobin returned to the baseline by day 30. The increase in endogenous rat EPO mirrored inversely hemoglobin changes and the maximum increase was observed soon after the hemoglobin nadir. The carboplatin-treated rats exhibited progressive anemia. The proposed model adequately described the time course of hematological changes after carboplatin in rats and can be a useful tool to explore potential strategies for the management of anemia caused by chemotherapy.
Woo, Sukyung; Krzyzanski, Wojciech
Cost-effectiveness of continuous erythropoietin receptor activator in anemia
Background Erythropoiesis-stimulating agents (ESAs) are the mainstay of anemia therapy. Continuous erythropoietin receptor activator (CERA) is a highly effective, long-acting ESA developed for once-monthly dosing. A multitude of clinical studies has evaluated the safety and efficiency of this treatment option for patients with renal anemia. In times of permanent financial pressure on health care systems, the cost-effectiveness of CERA should be of particular importance for payers and clinicians. Objective To critically analyze, from the nephrologists� point of view, the published literature focusing on the cost-effectiveness of CERA for anemia treatment. Methods The detailed literature search covered electronic databases including MEDLINE, PubMed, and Embase, as well as international conference abstract databases. Results Peer-reviewed literature analyzing the definite cost-effectiveness of CERA is scarce, and most of the available data originate from conference abstracts. Identified data are restricted to the treatment of anemia due to chronic kidney disease. Although the majority of studies suggest a considerable cost advantage for CERA, the published literature cannot easily be compared. While time and motion studies clearly indicate that a switch to CERA could minimize health care staff time in dialysis units, the results of studies comparing direct costs are more ambivalent, potentially reflecting the differences between health care systems and variability between centers. Conclusion Analyzed data are predominantly insufficient; they miss clear evidence and have to thus be interpreted with great caution. In this day and age of financial restraints, results from well-designed, head-to-head studies with clearly defined endpoints have to prove whether CERA therapy can achieve cost savings without compromising anemia management.
Schmid, Holger
[Questionnaire-based survey on chemotherapy-induced anemia].
The Japan Society of Clinical Oncology and The Japan Society of Transfusion Medicine and Cell Therapy jointly conducted a questionnaire-based survey on chemotherapy-induced anemia(CIA)in cancer patients between September and November 2010, the results of which are outlined here. For all the eight main cancer types in Japan that were analyzed(breast, lung, stomach, colorectal, liver, gynecologic, and urologic cancers and malignant lymphoma), blood transfusion was required in 1.6-24.0%(mean=7.5%)of patients who received chemotherapy, and 3.9-7.3 units(mean=5.9 units)red blood cells were transfused per patient. Approximately 146,000 units of red blood cells, accounting for 2.2%of the total annual supply of red blood cell products, was estimated to be transfused to cancer patients with CIA every year. In addition, approximately 172,000 cancer patients with CIA, accounting for 40% of patients receiving chemotherapy, were estimated to have hemoglo- bin(Hb)levels below 10 g/dL annually. In patients who received red blood cell transfusions, the average Hb level prior to chemotherapy was 9.5 g/dL and the average lowest Hb level after starting chemotherapy was 6.9 g/dL; these values were 11.6 g/dL and 10.4 g/dL, respectively, in patients who did not receive transfusion. Furthermore, for all cancer types, almost no red blood cell transfusions were performed in patients with an Hb level of 8.0 g/dL or higher, although many patients with an Hb level of 6.9 g/dL or lower also did not receive red blood cell transfusions. These results highlight the strict restriction of red blood cell transfusion to cancer patients with CIA. Therefore, the use of alternative therapies such as erythropoiesis-stimulating agents should be considered to improve the quality of life of cancer patients with CIA. PMID:24743357
Tanaka, Asashi
Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease
The anemia of chronic disease is a preva- lent, poorly understood condition that afflicts patients with a wide variety of diseases, including infections, malignan- cies, and rheumatologic disorders. It is characterized by a blunted erythropoietin response by erythroid precursors, de- creased red blood cell survival, and a defect in iron absorption and macro- phage iron retention, which interrupts iron delivery
David A. Weinstein; Cindy N. Roy; Mark D. Fleming; Massimo F. Loda; Joseph I. Wolfsdorf; Nancy C. Andrews
Linkage analysis of the Fanconi anemia gene FACC with chromosome 9q markers
Fanconi anemia (FA) is a genetically heterogeneous syndrome, with at least four different complementation groups as determined by cell fusion studies. The gene for complementation group C, FACC, has been cloned and mapped to chromosome 9q22.3 by in situ hybridization, while linkage analysis has supported the placement of another gene on chromosome 20q. We have analyzed five microsatellite markers and one RFLP on chromosome 9q in a panel of FA families from the International Fanconi Anemia Registry (IFAR) in order to place FACC on the genetic map. Polymorphisms were typed in 308 individuals from 51 families. FACC is tightly linked to both D9S151 [{Theta}{sub max}=0.025, Z{sub max}=7.75] and to D9S196 [{Theta}{sub max}=0.041, Z{sub max}=7.89]; multipoint analysis is in progress. We are currently screening a YAC clone that contains the entire FACC gene for additional microsatellite markers suitable for haplotype analysis of FA families.
Auerbach, A.D.; Shin, H.T.; Kaporis, A.G. [Rockefeller Univ., New York, NY (United States)] [and others
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
Mitochondrial diseases are associated with defects of adenosine triphosphate production and energy supply to organs as a result of dysfunctions of the mitochondrial respiratory chain. Biallelic mutations in the YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase cause myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2), a type of mitochondrial disease. Here, we report a consanguineous Turkish family with two siblings showing severe metabolic decompensation including recurrent hypoglycemia, lactic acidosis, and transfusion-dependent anemia. Using whole-exome sequencing of the proband and his parents, we identified a novel YARS2 mutation (c.1303A>G, p.Ser435Gly) that was homozygous in the patient and heterozygous in his parents. This mutation is located at the ribosomal protein S4-like domain of the gene, while other reported YARS2 mutations are all within the catalytic domain. Interestingly, the proband showed more severe symptoms and an earlier onset than previously reported patients, suggesting the functional importance of the S4-like domain in tyrosyl-tRNA synthetase. PMID:24430573
Nakajima, Junya; Eminoglu, Tuba F; Vatansever, Goksel; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Kawashima, Hisashi; Matsumoto, Naomichi; Miyake, Noriko
Prolactin and autoimmunity: hyperprolactinemia correlates with serositis and anemia in SLE patients.
Evidence points to an association of prolactin to autoimmune diseases. We examined the correlation between hyperprolactinemia and disease manifestations and activity in a large patient cohort. Age- and sex-adjusted prolactin concentration was assessed in 256 serum samples from lupus patients utilizing the LIASON prolactin automated immunoassay method (DiaSorin S.p.A, Saluggia, Italy). Disease activity was defined as present if European Consensus Lupus Activity Measurement (ECLAM)?>?2 or Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)?>?4. Lupus manifestations were grouped by organ involvement, laboratory data, and prescribed medications. Hyperprolactinemia was presented in 46/256 (18%) of the cohort. Hyperprolactinemic patients had significantly more serositis (40% vs. 32.4%, p?=?0.03) specifically, pleuritis (33% vs. 17%, p?=?0.02), pericarditis (30% vs. 12%, p?=?0.002), and peritonitis (15% vs. 0.8%, p?=?0.003). Hyperprolactinemic subjects exhibited significantly more anemia (42% vs. 26%, p?=?0.02) and marginally more proteinuria (65.5% vs. 46%, p?=?0.06). Elevated levels of prolactin were not significantly associated with other clinical manifestations, serology, or therapy. Disease activity scores were not associated with hyperprolactinemia. Hyperprolactinemia in lupus patients is associated with all types of serositis and anemia but not with other clinical, serological therapeutic measures or with disease activity. These results suggest that dopamine agonists may be an optional therapy for lupus patients with hyperprolactinemia. PMID:21287295
Orbach, Hedi; Zandman-Goddard, Gisele; Boaz, Mona; Agmon-Levin, Nancy; Amital, Howard; Szekanecz, Zoltan; Szucs, Gabriella; Rovensky, Josef; Kiss, Emese; Doria, Andrea; Ghirardello, Anna; Gomez-Arbesu, Jesus; Stojanovich, Ljudmila; Ingegnoli, Francesca; Meroni, Pier Luigi; Rozman, Blaz'; Blank, Miri; Shoenfeld, Yehuda
Hematological Indices for Differential Diagnosis of Beta Thalassemia Trait and Iron Deficiency Anemia
Background. The two most frequent types of microcytic anemia are beta thalassemia trait (?-TT) and iron deficiency anemia (IDA). We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and ?-TT in the same patient groups. Methods. A total of 290 carefully selected children aged 1.1�16 years were evaluated. We calculated 12 discrimination indices in all patients with hemoglobin (Hb) values of 8.7�11.4?g/dL. None of the subjects had a combined case of IDA and ?-TT. All children with IDA received oral iron for 16 weeks, and HbA2 screening was performed after iron therapy. The patient groups were evaluated according to red blood cell (RBC) count; red blood distribution width index; the Mentzer, Shine and Lal, England and Fraser, Srivastava and Bevington, Green and King, Ricerca, Sirdah, and Ehsani indices; mean density of hemoglobin/liter of blood; and mean cell density of hemoglobin. Results. The Mentzer index was the most reliable index, as it had the highest sensitivity (98.7%), specificity (82.3%), and Youden's index (81%) for detecting ?-TT; this was followed by the Ehsani index (94.8%, 73.5%, and 68.3%, resp.) and RBC count (94.8%, 70.5%, and 65.3%). Conclusion. The Mentzer index provided the highest reliabilities for differentiating ?-TT from IDA.
Vehapoglu, Aysel; Ozgurhan, Gamze; Demir, Aysegul Dogan; Uzuner, Selcuk; Nursoy, Mustafa Atilla; Turkmen, Serdar; Kacan, Arzu
Hematological indices for differential diagnosis of Beta thalassemia trait and iron deficiency anemia.
Background. The two most frequent types of microcytic anemia are beta thalassemia trait ( ? -TT) and iron deficiency anemia (IDA). We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and ? -TT in the same patient groups. Methods. A total of 290 carefully selected children aged 1.1-16 years were evaluated. We calculated 12 discrimination indices in all patients with hemoglobin (Hb) values of 8.7-11.4?g/dL. None of the subjects had a combined case of IDA and ? -TT. All children with IDA received oral iron for 16 weeks, and HbA2 screening was performed after iron therapy. The patient groups were evaluated according to red blood cell (RBC) count; red blood distribution width index; the Mentzer, Shine and Lal, England and Fraser, Srivastava and Bevington, Green and King, Ricerca, Sirdah, and Ehsani indices; mean density of hemoglobin/liter of blood; and mean cell density of hemoglobin. Results. The Mentzer index was the most reliable index, as it had the highest sensitivity (98.7%), specificity (82.3%), and Youden's index (81%) for detecting ? -TT; this was followed by the Ehsani index (94.8%, 73.5%, and 68.3%, resp.) and RBC count (94.8%, 70.5%, and 65.3%). Conclusion. The Mentzer index provided the highest reliabilities for differentiating ? -TT from IDA. PMID:24818016
Vehapoglu, Aysel; Ozgurhan, Gamze; Demir, Ay?egul Dogan; Uzuner, Selcuk; Nursoy, Mustafa Atilla; Turkmen, Serdar; Kacan, Arzu
Molecular detection, epidemiology, and genetic characterization of novel European field isolates of equine infectious anemia virus.
The application of molecular diagnostic techniques along with nucleotide sequence determination to permit contemporary phylogenetic analysis of European field isolates of equine infectious anemia virus (EIAV) has not been widely reported. As a result, of extensive testing instigated following the 2006 outbreak of equine infectious anemia in Italy, 24 farms with a history of exposure to this disease were included in this study. New PCR-based methods were developed, which, especially in the case of DNA preparations from peripheral blood cells, showed excellent correlation with OIE-approved agar gel immunodiffusion (AGID) tests for identifying EIAV-infected animals. In contrast, the OIE-recommended oligonucleotide primers for EIAV failed to react with any of the Italian isolates. Similar results were also obtained with samples from four Romanian farms. In addition, for the first time complete characterization of gag genes from five Italian isolates and one Romanian isolate has been achieved, along with acquisition of extensive sequence information (86% of the total gag gene) from four additional EIAV isolates (one Italian and three Romanian). Furthermore, in another 23 cases we accomplished partial characterization of gag gene sequences in the region encoding the viral matrix protein. Analysis of this information suggested that most Italian isolates were geographically restricted, somewhat reminiscent of the "clades" described for human immunodeficiency virus type 1 (HIV-1). Collectively this represents the most comprehensive genetic study of European EIAV isolates conducted to date. PMID:21084503
Cappelli, Katia; Capomaccio, Stefano; Cook, Frank R; Felicetti, Michela; Marenzoni, Maria Luisa; Coppola, Giacomo; Verini-Supplizi, Andrea; Coletti, Mauro; Passamonti, Fabrizio
Giant cell hepatitis with autoimmune hemolytic anemia in a nine month old infant
Giant cell hepatitis (GCH) with autoimmune hemolytic anemia is a rare entity, limited to young children, with an unknown pathogenesis. We report the case of 9-mo old who presented with fever, diarrhea and jaundice four days before hospitalization. Physical examination found pallor, jaundice and hepatosplenomegaly. The laboratory workup showed serum total bilirubin at 101 ?mol/L, conjugated bilirubin at 84 ?mol/L, hemolytic anemia, thrombocytopenia and immunoglobulin G (IgG) and anti-C3d positive direct Coombs� test. The antinuclear, anti-smooth muscle and liver kidney microsomes 1 non-organ specific autoantibodies, antiendomisium antibodies were negative. Serological assays for viral hepatitis B and C, cytomegalovirus, herpes simplex and Epstein Barr virus were negative. The association of acute liver failure, Evan�s syndrome, positive direct Coomb�s test of mixed type (IgG and C3) and the absence of organ and non-organ specific autoantibodies suggested the diagnosis of GCH. The diagnosis was confirmed by a needle liver biopsy. The patient was treated by corticosteroids, immunomodulatory therapy and azathioprine but died with septicemia.
Bouguila, Jihene; Mabrouk, Sameh; Tilouche, Samia; Bakir, Dajla; Trabelsi, Amel; Hmila, Amel; Boughammoura, Lamia
Interstitial lung disease associated with Equine Infectious Anemia Virus infection in horses
EIA (Equine Infectious Anemia) is a blood-borne disease primarily transmitted by haematophagous insects or needle punctures. Other routes of transmission have been poorly explored. We evaluated the potential of EIAV (Equine Infectious Anemia Virus) to induce pulmonary lesions in naturally infected equids. Lungs from 77 EIAV seropositive horses have been collected in Romania and France. Three types of lesions have been scored on paraffin-embedded lungs: lymphocyte infiltration, bronchiolar inflammation, and thickness of the alveolar septa. Expression of the p26 EIAV capsid (CA) protein has been evaluated by immunostaining. Compared to EIAV-negative horses, 52% of the EIAV-positive horses displayed a mild inflammation around the bronchioles, 22% had a moderate inflammation with inflammatory cells inside the wall and epithelial bronchiolar hyperplasia and 6.5% had a moderate to severe inflammation, with destruction of the bronchiolar epithelium and accumulation of smooth muscle cells within the pulmonary parenchyma. Changes in the thickness of the alveolar septa were also present. Expression of EIAV capsid has been evidenced in macrophages, endothelial as well as in alveolar and bronchiolar epithelial cells, as determined by their morphology and localization. To summarize, we found lesions of interstitial lung disease similar to that observed during other lentiviral infections such as FIV in cats, SRLV in sheep and goats or HIV in children. The presence of EIAV capsid in lung epithelial cells suggests that EIAV might be responsible for the broncho-interstitial damages observed.
Local concepts of anemia-related illnesses and public health implications in the Taabo health demographic surveillance system, C?te d'Ivoire
Background A 14-month prospective longitudinal study conducted in the Taabo health demographic surveillance system (HDSS), south-central C�te d�Ivoire, revealed high prevalence of anemia in different population groups in three types of settings (i.e., small town, village, and hamlet). Demographic parameters and several variables related to parasitic infections, micronutrient status, and inflammation were significantly associated with higher odds of anemia. However, cultural concepts and knowledge of various anemia-related illnesses and their relation with people�s behaviors have not been investigated. Methods Sixteen focus group discussions and six key informant interviews were performed with village authorities, health workers, and traditional healers. Questionnaires were administrated to 200 school-aged children and 115 young women. Of these individuals, 206 participated in the preceding longitudinal study, whereas the remaining 109 people were not exposed to prior research, but had similar age and sex profiles. Mean prominence of participants� responses was compared between groups of participants and across study settings. Results Local concepts of anemia-related illnesses referred to its perceived causes based on two logical frameworks � biomedical and sociocultural � although a clear distinction was often blurred. We found few differences in knowledge, beliefs, and behaviors across study settings and between participants who were exposed to prior research and newly recruited ones. Malaria und nutritional issues as understood and managed by the population differed from definitions and recommendations provided by the health system. Malaria was not acknowledged as an exclusive mosquito-transmitted disease and participants referred to the quantity, rather than the quality, of food when talking about nutritional issues. Conclusions Local concepts and ideas about anemia have public health implications, inasmuch as they are related to people�s attitudes, risk-related and help-seeking behaviors, which in turn might affect their health status. Local terminology and beliefs about anemia and malaria should be carefully considered when developing health intervention and education programs. The similarity in knowledge about anemia-related illnesses and associated behaviors, regardless of study setting and prior exposure to research, suggests that a uniform communication strategy may be used to develop education programs and awareness campaigns aimed at the prevention and control of anemia in south-central C�te d�Ivoire.
Outcome in hip fracture patients related to anemia at admission and allogeneic blood transfusion: an analysis of 1262 surgically treated patients
Background Anemia is more often seen in older patients. As the mean age of hip fracture patients is rising, anemia is common in this population. Allogeneic blood transfusion (ABT) and anemia have been pointed out as possible risk factors for poorer outcome in hip fracture patients. Methods In the timeframe 2005-2010, 1262 admissions for surgical treatment of a hip fracture in patients aged 65 years and older were recorded. Registration was prospective from 2008 on. Anemic and non-anemic patients (based on hemoglobin level at admission) were compared regarding clinical characteristics, mortality, delirium incidence, LOS, discharge to a nursing home and the 90-day readmission rate. Receiving an ABT, age, gender, ASA classification, type of fracture and anesthesia were used as possible confounders in multivariable regression analysis. Results The prevalence of anemia and the rate of ABT both were 42.5%. Anemic patients were more likely to be older and men and had more often a trochanteric fracture, a higher ASA score and received more often an ABT. In univariate analysis, the 3- and 12-month mortality rate, delirium incidence and discharge to a nursing home rate were significantly worse in preoperatively anemic patients. In multivariable regression analysis, anemia at admission was a significant risk factor for discharge to a nursing home and readmission < 90 days, but not for mortality. Indication for ABT, age and ASA classification were independent risk factors for mortality at all moments, only the mortality rate for the 3-12 month interval was not influenced by ABT. An indication for an ABT was the largest negative contributor to a longer LOS (OR 2.26, 95% CI 1.73-2.94) and the second largest for delirium (OR 1.67, 95% CI 1.28-2.20). Conclusions This study has demonstrated that anemia at admission and postoperative anemia needing an ABT (PANT) were independent risk factors for worse outcome in hip fracture patients. In multivariable regression analysis, anemia as such had no effect on mortality, due to a rescue effect of PANT. In-hospital, 3- and 12-month mortality was negatively affected by PANT, with the main effect in the first 3 months postoperatively.
Myocardial Performance and its Acute Response to Angiotensin II Infusion in Fetal Sheep Adapted to Chronic Anemia
Fetal chronic anemia causes lengthening of cardiomyocytes. In adults, severe left ventricular overload may lead to irreversible ventricular dysfunction. We hypothesized that in sheep fetuses with chronic anemia, remodeled myocardium would less successfully respond to angiotensin II (AT II) infusion than in fetuses without anemia. A total of 14 ewes with twin pregnancy underwent surgery at 113 � 1 days of gestation. After a recovery period, anemia was induced by isovolumic hemorrhage in 1 fetus of each pair. At 126 � 1 days of gestation, longitudinal myocardial velocities of the right (RV) and left (LV) ventricles were assessed at the level of the atrioventricular valve annuli via tissue Doppler imaging. Cardiac outputs were calculated by pulsed Doppler ultrasound. All measurements were performed at baseline and during fetal AT II infusion. Fetal serum cardiac natriuretic peptide (N-terminal peptide of proatrial natriuretic peptide [NT-proANP] and B-type natriuretic peptide [BNP]) concentrations were determined. Nine ewes successfully completed the experiment. At baseline, ventricular free wall thicknesses, cardiac outputs, and NT-proANP levels were significantly greater in the anemic fetuses than in the controls. The LV isovolumic contraction velocity (IVCV) acceleration and isovolumic relaxation velocity (IVRV) deceleration were lower (P < .05) in the anemic fetuses than in the controls. In the anemic fetuses, there was a positive correlation (R = .93, P < .01) between RV IVRV deceleration and NT-proANP concentration. Angiotensin II infusion increased (P < .05) LV IVCV acceleration in the anemic fetuses. We conclude that in anemic sheep fetuses, myocardial adaptation is associated with impaired LV early contraction and relaxation. However, the LV can improve its contractility with an inotropic stimulus, even in the presence of increased afterload.
Bernard, Leah S.; Hashima, Jason N.; Hohimer, A. Roger; Sahn, David J.; Ashraf, Muhammad; Vuolteenaho, Olli; Davis, Lowell E.; Rasanen, Juha
Triad of Iron Deficiency Anemia, Severe Thrombocytopenia and Menorrhagia--A Case Report and Literature Review
Introduction Thrombocytosis is a common disorder in patients diagnosed with iron deficiency anemia. The decreased platelet counts commonly found iron deficiency anemia is rarely reported in clinical practice. The exact mechanism of the occurrence of thrombocytopenia in iron deficiency anemia remains unclear. In this case report we discuss a triad of symptoms seen in the African American population: Iron deficiency anemia, menorrhagia and thrombocytopenia. Case presentation A 40 year old multiparous African-American woman presented with heavy vaginal bleed, severe anemia (3.5 g/dL) and thrombocytopenia (30,000/mm3). The peripheral blood smear showed marked microcytic hypochromic cells with decreased platelets counts. After excluding other causes of thrombocytopenia and anemia, increased red cell distribution width and low iron saturation confirmed the diagnosis of iron deficiency anemia. Treatment for iron deficiency anemia was initiated with intravenous and oral iron supplements. Two months following treatment of iron deficiency anemia, the triad of manifestations resolved and patient remained stable. Conclusion Profound degree of iron deficiency anemia can present with thrombocytopenia and severe menorrhagia. Iron replacement should be the main treatment goal in these patients. This case report further supports the 2 compartment model of the role of iron in maintaining platelet counts.
Ibrahim, Ramy; Khan, Areej; Raza, Shahzad; Kafeel, Muhammad; Dabas, Ridhima; Haynes, Elizabeth; Gandhi, Anjula; Majumder, Omran L.; Zaman, Mohammad
Prevalence of Anemia among Adults with Newly Diagnosed HIV/AIDS in China
Background The prevalence of anemia among antiretroviral-na�ve HIV-infected patients in China has not been well characterized. We conducted a cross-sectional study to estimate the prevalence of anemia among Chinese adults with newly diagnosed HIV/AIDS. Methods One thousand nine hundred and forty-eight newly diagnosed HIV-infected patients in China were selected during 2009 and 2010. Serum samples obtained from each individual were collected to measure hemoglobin levels. Demographics and medical histories were recorded. Factors associated with the presence of anemia were analysed by logistic regression. Results Among the 1948 patients, 75.8% were male. Median age was 40 years (range: 18�80 years). The overall prevalence of anemia among HIV-infected patients was 51.9% (51.5% among men, 53.2% among women). The prevalences of mild anemia, of moderate anemia, of severe anemia were 32.4%, 17.0%, and 2.5%, respectively. The prevalence of anemia was higher among ethnic minority patients than among the Han patients (70.9% versus 45.9%). The prevalence of anemia increased with increasing age (49.6%, 53.5% and 60.1% among patients who were 18�39, 40�59, and ?60 years of age respectively) and with decreasing CD4 count (14.0%, 22.4%, 50.7%, and 74.6% among patients with CD4 count of ?350, 200�349, 50�199, and <50 cells/mm3 respectively). The logistic regression analysis showed that older age, lower CD4 count and minority ethnicity were significantly associated with an increased risk of anemia. Conclusions Anemia is highly prevalent among Chinese adults with newly diagnosed HIV/AIDS, but severe anemia is less prevalent in this population. Older age, lower CD4 count and minority ethnicity are associated with an increased risk of anemia.
Shen, Yinzhong; Wang, Zhenyan; Lu, Hongzhou; Wang, Jiangrong; Chen, Jun; Liu, Li; Zhang, Renfang; Zheng, Yufang
Determinants of anemia in postpartum HIV-negative women in Dar es Salaam, Tanzania
OBJECTIVE The determinants of anemia during both pregnancy and postpartum recovery remain incompletely understood in sub-Saharan African women. SUBJECTS/METHODS In a prospective cohort study among pregnant women, we assessed dietary, biochemical, anthropometric, infectious and sociodemographic factors at baseline. In multivariate Cox proportional hazards models, we examined predictors of incident anemia (hemoglobin <11 g/dl) and iron deficiency anemia (anemia plus mean corpuscular volume <80 fL), and recovery from anemia and iron deficiency anemia through 18 months postpartum at antenatal clinics in Dar es Salaam, Tanzania between 2001 and 2005. A total of 2364 non-anemic pregnant women and 4884 anemic women were enrolled between 12 and 27 weeks of gestation. RESULTS In total, 292 women developed anemia during the postpartum period and 165 developed iron deficiency anemia, whereas 2982 recovered from baseline anemia and 2044 from iron deficiency anemia. Risk factors for postpartum anemia were delivery complications (RR 1.6, 95% confidence interval (CI) 1.13, 2.22) and low postpartum CD4 cell count (RR 1.73, 95% CI 0.96, 3.17). Iron/folate supplementation during pregnancy had a protective relationship with the incidence of iron deficiency anemia. Absence of delivery complications, education status and iron/folate supplementation were positively associated with time to recovery from iron deficiency. CONCLUSION Maternal nutritional status during pregnancy, prenatal iron/folate supplementation, perinatal care, and prevention and management of infections, such as malaria, are modifiable risk factors for the occurrence of, and recovery from, anemia.
Petraro, P; Duggan, C; Urassa, W; Msamanga, G; Makubi, A; Spiegelman, D; Fawzi, WW
Early manifestation of Ghosal-type hemato-diaphyseal dysplasia.
Ghosal-type hemato-diaphyseal dysplasia is a rare autosomal recessive disorder with distinctive diaphyseal and metaphyseal dysplasia of long bones and steroid-dependant anemia. The authors describe a 20-month-old girl who had had a severe transfusion-dependent anemia since late infancy and marked locomotion difficulties as a toddler. The diagnosis was established by X-ray bone survey. The anemia was treated with oral prednisolone. Since then, the patient has been doing well on steroid-maintenance therapy and has no more walking difficulties. The incidence of hemato-diaphyseal dysplasia in the Indian subcontinent and Middle East is notable. PMID:12775540
Alebouyeh, Mardawig; Vossough, Parvanch; Tabarrok, Firouz
Targeting Erythroblast-specific Apoptosis in Experimental Anemia
Erythrocyte production is regulated by balancing precursor cell apoptosis and survival signaling. Previously, we found that BH3-only proapoptotic factor, Nix, opposed erythroblast-survival signaling by erythropoietin-induced Bcl-xl during normal erythrocyte formation. Since erythropoietin treatment of human anemia has limitations, we explored the therapeutic potential of abrogating Nix-mediated erythroblast apoptosis to enhance erythrocyte production. Nix gene ablation blunted the phenylhydrazine-induced fall in blood count, enhanced hematocrit recovery, and reduced erythroblast apoptosis, despite lower endogenous erythropoietin levels. Similar to erythropoietin, Nix ablation increased early splenic erythroblasts and circulating reticulocytes, while maintaining a pool of mature erythroblasts as erythropoietic reserve. Erythrocytes in Nix-deficient mice showed morphological abnormalities, suggesting that apoptosis during erythropoiesis not only controls red blood cell number, but also serves a �triage� function, preferentially eliminating abnormal erythrocytes. These results support the concept of targeting erythroblast apoptosis to maximize erythrocyte production in acute anemia, which may be of value in erythropoietin resistance.
Diwan, Abhinav; Koesters, Andrew G; Capella, Devan; Geiger, Hartmut; Kalfa, Theodosia A.; Dorn, Gerald W
Orthodontic treatment of patients with sickle-cell anemia.
Sickle-cell anemia is a genetic blood disease characterized by a hemoglobin gene mutation. The genetic failure is basically constituted by replacement of the hemoglobin beta chain in the sixth position so that the amino acid valine is encoded instead of glutamic acid. As a result, the erythrocytes have their normal biconcave discoid shape distorted, generally presenting a sicklelike shape, which reduces both their plasticity and lifetime. Because a complete blood supply is so important during application of both intraoral and extraoral forces, this article addresses the general and oral aspects associated with sickle-cell anemia. This will guide the clinician regarding such patients who seek orthodontic treatment by making references to literature on multidisciplinary management. PMID:16539552
Alves, Patricia Val�ria Milanezi; Alves, Daniele Karina M; de Souza, Margareth Maria Gomes; Torres, Sandra Regina
A Hemoglobin Variant Associated with Neonatal Cyanosis and Anemia
SUMMARY Globin-gene mutations are a rare but important cause of cyanosis. We identified a missense mutation in the fetal G ?-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and anemia. This new mutation modifies the ligand-binding pocket of fetal hemoglobin by means of two mechanisms. First, the relatively large side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit and the rate at which it does so. Second, the mutant methionine is converted to aspartic acid post-translationally, probably through oxidative mechanisms. The presence of this polar amino acid in the heme pocket is predicted to enhance hemoglobin denaturation, causing anemia.
Crowley, Moira A.; Mollan, Todd L.; Abdulmalik, Osheisa Y.; Butler, Andrew D.; Goodwin, Emily F.; Sarkar, Arindam; Stolle, Catherine A.; Gow, Andrew J.; Olson, John S.; Weiss, Mitchell J.
Cryptococcal meningitis in patients with autoimmune hemolytic anemia.
To summarize the epidemiology, clinical features, treatment, and outcome of cryptococcal meningitis (CM) in autoimmune hemolytic anemia (AIHA) patients and to provide a reference for the prevention and control of AIHA complicated with CM, we evaluated five cases of CM in patients with AIHA treated in our hospital from 2003 to 2013 and eight related foreign cases. All of the clinical isolates were Cryptococcus neoformans var. grubii and grouped into the VNI genotype and serotype A. The clinical features exhibit significant features. Headache, nausea, and fever are common symptoms of AIHA complicated with CM. The early clinical manifestations lack specificity, which may lead to delayed diagnosis and treatment. Long-term use of prednisone (?15�mg�day(-1)), poor control of anemia, and splenectomy are risk factors for AIHA complicated with cryptococcal infection. The combination of intravenous amphotericin B and oral 5-fluorocytosine remains the preferred treatment for AIHA complicated with CM. PMID:24952011
Yang, YaLi; Sang, Junjun; Pan, Weihua; Du, Lin; Liao, Wanqing; Chen, Jianghan; Zhu, Yuanjie
Fanconi anemia and the cell cycle: new perspectives on aneuploidy
Fanconi anemia (FA) is a complex heterogenic disorder of genomic instability, bone marrow failure, cancer predisposition, and congenital malformations. The FA signaling network orchestrates the DNA damage recognition and repair in interphase as well as proper execution of mitosis. Loss of FA signaling causes chromosome instability by weakening the spindle assembly checkpoint, disrupting centrosome maintenance, disturbing resolution of ultrafine anaphase bridges, and dysregulating cytokinesis. Thus, the FA genes function as guardians of genome stability throughout the cell cycle. This review discusses recent advances in diagnosis and clinical management of Fanconi anemia and presents the new insights into the origins of genomic instability in FA. These new discoveries may facilitate the development of rational therapeutic strategies for FA and for FA-deficient malignancies in the general population.
Inborn anemias in mice: (Annual report, 1983-1984)
The hypotranserrinemic-hemochromatosis mutation in mice discovered in our laboratory is an almost exact duplicate of human atransferrinemia. Just as in man, the condition is inherited as a recessive lethal. The disease appears to stem from a congenital deficiency in transferrin. The new mutation arose spontaneously in BALB/c mice and results in death before 12 days of age. It is characterized by stunted growth, low numbers of erythrocytes, hypochromia, and in the absence of jaundice. Treatments with Imferon or other iron preparations were uniformly unsuccessful, but the use of normal mouse serum proved successful as a therapeutic measure. We find that we are able to keep these afflicted mice alive for more than a year with small amounts of normal serum, and transferrin bands are missing on cellulose acetate electrophoresis of serum proteins from affected individuals receiving no treatment. Genetic tests indicated that the new mutation was not an allele of any of the other known iron deficiency anemias in the mouse: sex linked anemia (sla), microcytic anemia (mk), or flexed anemia (f) or any of the members of the hemolytic disease group (sph, sph/sup ha/, nb, or ja). Biochemical and genetic analyses carried out during the past year indicate that the new mutation, tentatively designated hpx is not likely to be a mutation at the transferrin (Trf) locus on Chromosome 9. We observed no unusual serum proteins on cellulose acetate electrophoresis, such as might be expected if the Trf gene had mutated. Moreover, radial immunodiffusion examination and Ouchterlony analysis did not show the presence of smaller molecules (or fragments) with transferrin antigenic specificities. Instead they showed a total loss in serum transferrin. 14 refs., 5 tabs.
Bernstein, S.E.
Danazol as first-line therapy for aplastic anemia
Immunosuppressive therapy (IST) with anti-thymocyte globulin (ATG) plus cyclosporine A (CsA) is the standard treatment for\\u000a aplastic anemia (AA) patients not eligible for allogeneic hematopoietic stem cell transplantation (HSCT). In the absence of\\u000a ATG + CsA, androgens continue to be a treatment option. We documented the clinical evolution of AA patients treated with danazol\\u000a instead of ATG + CsA. AA
Jos� Carlos Jaime-P�rez; Perla R. Colunga-Pedraza; Cynthia D. G�mez-Ram�rez; C�sar H. Guti�rrez-Aguirre; Olga G. Cant�-Rodr�guez; Luz C. Tar�n-Arzaga; David G�mez-Almaguer
Serological and Clinical Aspects of Autoimmune Hemolytic Anemias
SummaryAutoimmune hemolytic anemias (AIHAs) may occur when specific autoantibodies react with red blood cell (RBC) antigens. Decompensated hemolysis and detectable autoantibodies against RBCs are classical findings. The autoantibodies preferentially react at 37 �C (warm autoantibodies). The majority of these autoantibodies are of the IgG class; IgM and IgA warm autoantibodies are less common. Roughly 50% of the patients have an
A. Salama; N. Ahrens; H. Kiesewetter
Preventing childhood anemia in India: iron supplementation and beyond.
Childhood anemia has major adverse consequences for health and development. It's prevalence in India continues to range from 70 to 90%. Although anemia is multifactorial in etiology, preventative efforts have predominantly focused on increasing iron intake, primarily through supplementation in pregnant and lactating women. Policy thrust for childhood anemia is only recent. However, program implementation is dismal; only 3.8-4.7% of preschoolers receive iron-folate supplements. There is an urgent need for effective governance and implementation. Policy makers must distinguish anemia from iron deficiency, and introduce additional area-specific interventions as an integrated package.Increased iron intake may yield maximum benefit but will only address up to half the burden. In 6-59 months old children, instead of 100 days' continuous dosing with iron-folate syrup in a year, a directly supervised intermittent supplementation (biweekly; ~100 days per year) merits consideration. Multiple micronutrient powders for home fortification of foods in 6-23 months old infants do not appear viable. Additional interventions include delayed cord clamping, earlier supplementation in low birth weight infants, appropriate infant and young child feeding guidelines, and intermittent supervised supplementation in children and adolescents through school health programs. Use of double (iron-folate)-fortified salt in mid-day meal programs deserves piloting.Important area-specific, non-iron interventions include targeted deworming, and prevention and treatment of hemoglobinopathies, malaria and other common infections. Routine addition of multi-micronutrients to iron-folate supplementation appears unjustified currently. There is a pressing need to conduct relevant research, especially to inform etiology, additional interventions and implementation issues. PMID:23388662
Sachdev, H P S; Gera, T
MOLECULAR MEDICINE: "Sickle Cell Anemia, a Molecular Disease"
NSDL National Science Digital Library
Access to the article is free, however registration and sign-in are required. Fifty years ago this month, Linus Pauling published his seminal Science paper describing the difference in electrophoretic mobilities between normal hemoglobin and that from patients with sickle cell anemia. In so doing he founded the field of molecular medicine, as Strasser explains in a lively Perspective that looks at the discovery and its aftermath.
Bruno J. Strasser (University of Geneva;Louis-Jeantet Institute for the History of Medicine)
Zinc-induced hemolytic anemia in a dog.
A dog ingested a zinc nut that was retained in the stomach and caused a life-threatening hemolytic crisis with renal, gastrointestinal, and hepatic dysfunction. The dog was stabilized by blood transfusion and was anesthetized, and the zinc nut was removed with a fiberoptic endoscope. With continued supportive care, the dog recovered. Metallic zinc is found in high concentrations in nuts, bolts, and pennies. Zinc toxicosis should be considered in cases of unexplained hemolytic anemia. PMID:3654320
Torrance, A G; Fulton, R B
Neutropenic Enterocolitis in Children with Acute Leukemia or Aplastic Anemia
Neutropenic enterocolitis (NE) and acute appendicitis are life-threatening conditions that develop in children with severe\\u000a or prolonged neutropenia secondary to acute leukemia and lymphoma. The medical records of 118 patients who were treated for\\u000a acute lymphoblastic leukemia (69 patients), acute myelogenous leukemia (22 patients), or aplastic anemia (27 patients) between\\u000a 1997 and 2006 in our hospital pediatric hematology department were
Bulent Alioglu; Zekai Avci; Figen Ozcay; Serdar Arda; Namik Ozbek
Decreased C-Peptide Secretion in Sickle Cell Anemia
Intravenous glucose tolerance tests (IVGTT) were performed on 9 adults with sickle cell anemia and 15 normal controls. Blood samples were collected before and 1, 3, 5, 10, 20, 30, 40, 50, and 60 min after intravenous glucose infusion and used for glucose and C-peptide assays. The mean C-peptide concentration after glucose infusion was significantly (p < 0.05) lower for
Sara. T. O. Saad; Gisele S. Braga; Mario J. A. Saad
Relation between Blood Lead Levels and Childhood Anemia in India
Lead pollution is a substantial problem in developing countries such as India. The US Centers for Disease Control and Prevention has defined an elevated blood lead level in children as ? 10 lg\\/dl, on the basis of neurologic toxicity. The US Environmental Protection Agency suggests a threshold lead level of 20-40 lg\\/dl for risk of childhood anemia, but there is
Nitin B. Jain; Francine Laden; Ulrich Guller; Anoop Shankar; Shamsah Kazani; Eric Garshick
Severe canine hereditary hemolytic anemia treated by nonmyeloablative marrow transplantation
Severe hemolytic anemia in Basenji dogs secondary to pyruvate kinase (PK) deficiency can be corrected by marrow allografts from healthy littermates after a conventional high-dose myeloablative conditioning regimen. The nonmyeloablative conditioning regimen used here, which consisted of a sublethal dose of 200 cGy total body irradiation before and immunosuppression with mycophenolate mofetil and cyclosporine after a dog leukocyte antigen (DLA)-identical
J. Maciej Zaucha; Cong Yu; Clinton D Lothrop; Richard A Nash; George Sale; George Georges; Hans-Peter Kiem; Glenn P Niemeyer; Marc Dufresne; Qiongfang Cao; Rainer Storb
Benchmark Dose of Lead Inducing Anemia at the Workplace
To estimate the critical dose of lead inducing anemia in humans, the effects of lead on hemoglobin (Hb) and hematocrit (Hct) levels and red blood cell (RBC) count were examined in 388 male lead-exposed workers with blood lead (BPb) levels of 0.05�5.5 (mean 1.3) ?mol/L by using the benchmark dose (BMD) approach. The BPb level was significantly related to Hb
Kanae Karita; Eiji Yano; Miwako Dakeishi; Toyoto Iwata; Katsuyuki Murata
Treatment of anemia with epoetin in kidney transplant recipients.
The aim of this study was to analyze the prevalence and efficacy of renal anemia treated with epoetin in maintenance kidney transplant recipients in Slovenia. By the end of 2009, 107 out of 537 patients (19.9%) had been treated with epoetin. A cohort of 49 patients (45.8%) were analyzed in detail: 11 patients received epoetin alpha, 18 epoetin beta, 10 darbepoetin alpha, and 10 patients received methoxy polyethylene glycol-epoetin beta. The median epoetin dose was 0.36 �g/kg body weight per week. The median serum laboratory parameters were as follows: hemoglobin 120 g/L, hematocrit 0.36, ferritin 332 ng/mL, transferrin saturation 34%, serum creatinine 145 �mol/L, serum albumin 41 g/L, intact parathyroid hormone 79 ng/L, and C-reactive protein 3 mg/L. We concluded that the prevalence of renal anemia in kidney transplant recipients treated with epoetin was approximately 20%, and laboratory parameters suggested that the treatment of renal anemia in this study cohort was optimal. PMID:21624072
Bren, Andrej; Arnol, Miha; Kandus, Aljo�a; Varl, Janez; Oblak, Manca; Lindi?, Jelka; Pajek, Jernej; Knap, Bojan; Kova?, Damjan; Mlin�ek, Gregor; Buturovi?-Ponikvar, Jadranka
Doppler velocimetry in pregnant patients with sickle cell anemia.
Women with sickle cell anemia have an increased risk of bearing low-birth-weight (LBW) progeny. To establish prognostic indicators of neonatal outcome, 15 women with sickle cell anemia were followed through their pregnancies with the use of umbilical and uterine Doppler flow velocimetry. The systolic/diastolic ratios obtained were correlated with neonatal birth weight, gestational age, and birth weight percentile. Pregravid hemoglobin levels, reticulocyte counts, dense cell numbers, percentage hemoglobin F, and indirect bilirubin and lactate dehydrogenase levels were also determined, and statistical analysis was performed to assess whether any of these parameters would be useful in conjunction with velocimetry. We report here that, in sickle cell anemia, prenatal umbilical and uterine Doppler velocimetry ratios correlate inversely and significantly with neonatal birth weight (P < 0.005 and P < 0.002, respectively). In addition, prenatal maternal HbF levels also correlate significantly with Doppler velocimetry readings, an independent indicator of LBW progeny. Neither pregravid hemoglobin levels nor dense cell concentration correlates with Doppler umbilical and uterine flow velocimetry ratios determined during pregnancy. Pregravid high levels of HbF and velocimetry readings may serve to delineate a subset of sickle cell patients who may have different requirements for prenatal care. The possible mechanism for the detrimental effects of increased levels of fetal hemoglobin has not been clearly established, but it may involve increased propensity for vasoocclusion due to the unique rheology of the human placenta. PMID:7679883
Billett, H H; Langer, O; Regan, O T; Merkatz, I; Anyaegbunam, A
Use of iron-fortified rice reduces anemia in infants.
Food fortification is advocated to tackle iron deficiency in anemic populations. Our objective was to evaluate the impact of iron-fortified rice (Ultrarice(�)) weekly on hemoglobin and anemia levels compared with standard rice (control). This cluster-randomized study deals with infants (10-23?months) from two public child day care centers in Brazil, n?=?216, in an 18 week intervention. The intervention group received individual portions of fortified rice (50?g) provided 56.4?mg elemental/Fe. For intervention center: baseline mean hemoglobin was 11.44?�?1.07?g/dl, and after intervention 11.67?�?0.96?g/dl, p?0.029; for control: baseline mean hemoglobin value was 11.35?�?4.01?g/dl, and after intervention 11.36?�?2.10?g/dl, p?=?0.986. Anemia prevalence for intervention center was 31.25% at baseline, and 18.75% at end of study, p?=?0.045; for control 43.50% were anemic at baseline, and 37.1% at the end of study, p?=?0.22. Number Needed to Treat was 7. Iron-fortified rice was effective in increasing hemoglobin levels and reducing anemia in infants. PMID:22643708
Nogueira Arcanjo, Francisco Pl�cido; Santos, Paulo Roberto; Arcanjo, Caio Pl�cido Costa; Amancio, Olga Maria Silverio; Braga, Josefina Aparecida Pellegrini
Targeting the Hepcidin-Ferroportin Axis to Develop New Treatment Strategies for Anemia of Chronic Disease and Anemia of Inflammation
Anemia of Chronic Disease (ACD) or Anemia of Inflammation (AI) is prevalent in patients with chronic infection, autoimmune disease, cancer and chronic kidney disease. ACD is associated with poor prognosis and lower quality of life. Management of ACD using intravenous iron and erythropoiesis stimulating agents (ESAs) are ineffective for some patients and are not without adverse effects, driving the need for new alternative therapies. Recent advances in our understanding of the molecular mechanisms of iron regulation reveal that increased hepcidin, the iron regulatory hormone, is a key factor in the development of ACD. In this review, we will summarize the role of hepcidin in iron homeostasis, its contribution to the pathophysiology of ACD, and novel strategies that modulate hepcidin and its target ferroportin for the treatment of ACD.
Sun, Chia Chi; Vaja, Valentina; Babitt, Jodie L.; Lin, Herbert Y.
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway
Marieke Levitus; Quinten Waisfisz; Barbara C Godthelp; Yne de Vries; Shobbir Hussain; Wouter W Wiegant; Elhaam Elghalbzouri-Maghrani; J�rgen Steltenpool; Martin A Rooimans; Gerard Pals; Fr� Arwert; Christopher G Mathew; Ma?gorzata Z Zdzienicka; Kevin Hiom; Johan P De Winter; Hans Joenje
Sequential Treatment of Anemia in Ulcerative Colitis with Intravenous Iron and Erythropoietin
Background: Intravenous iron and erythropoietin have been shown to be effective in Crohn�s disease-associated anemia. The aim of this study was to test the sequential treatment of anemia in ulcerative colitis with intravenous iron in the first phase and erythropoietin in the second. Patients and Methods: Twenty patients with ulcerative colitis-associated anemia (hemoglobin ?10.5 g\\/dl) entered this open-label trial. In
Christoph Gasche; Clemens Dejaco; Walter Reinisch; Wolfgang Tillinger; Thomas Waldhoer; Gerhard F. Fueger; Herbert Lochs; Alfred Gangl
Influence of Severity of Anemia on Clinical Findings in Infants with Sickle Cell Anemia: Analyses from the BABY HUG Study
Background Clinical complications of sickle cell anemia begin in infancy. BABY HUG (ClinicalTrials.gov, NCT00006400) was a NHLBI-NICHD supported randomized phase III placebo-controlled trial of hydroxyurea (HU) in infants (recruited at 9�18 months) unselected for clinical severity with sickle cell anemia. This secondary analysis of data from BABY HUG examines the influence of anemia on the incidence of sickle cell related complications, and the impact of hydroxyurea therapy in altering these events by comparing children with lower (<25th percentile) and higher (>75th percentile) hemoglobin concentrations at study entry. Procedure Infants were categorized by: 1) age-adjusted hemoglobin quartiles as determined by higher (Hi) and lower (Lo) hemoglobin concentrations at study entry (9 to12 months old: <8.0 gm/dL and >10.0gm/dL; 12 to 18 months old: <8.1 gm/dL and >9.9gm/dL) and 2) treatment arm (hydroxyurea or placebo). Four subgroups were created: placebo (PL) LoHb (n=25), PL HiHb (n=27), hydroxyurea (HU) LoHb (n=21), and HU HiHb (n=18). The primary and secondary endpoints of BABY HUG were analyzed by subgroup. Results Infants with lower hemoglobin at baseline were more likely to have a higher incidence of clinical events (acute chest syndrome, pain crisis, fever) as well as higher TCD velocities and lower neuropsychological scores at study exit. Hydroxyurea reduced the incidence of these findings. Conclusion Infants with more severe anemia are at risk for increased clinical events that may be prevented by early initiation of hydroxyurea.
Lebensburger, Jeffrey D.; Miller, Scott T.; Howard, Thomas H.; Casella, James F.; Brown, R. Clark; Lu, Ming; Iyer, Rathi V.; Sarnaik, Sharada; Rogers, Zora R.; Wang, Winfred C.
The role of TMPRSS6/matriptase-2 in iron regulation and anemia
Matriptase-2, encoded by the TMPRSS6 gene, is a member of the type II transmembrane serine protease family. Matriptase-2 has structural and enzymatic similarities to matriptase-1, which has been implicated in cancer progression. Matriptase-2 was later established to be essential in iron homeostasis based on the phenotypes of iron-refractory iron deficiency anemia identified in mouse models as well as in human patients with TMPRSS6 mutations. TMPRSS6 is expressed mainly in the liver and negatively regulates the production of hepcidin, the systemic iron regulatory hormone. This review focuses on the current understanding of matriptase-2 biochemistry, and its role in iron metabolism and cancer progression. In light of recent investigations, the function of matriptase-2 in hepcidin regulation, how it is being regulated, as well as the therapeutic potential of matriptase-2 are also discussed.
Wang, Chia-Yu; Meynard, Delphine; Lin, Herbert Y.
Expanded roles of the Fanconi anemia pathway in preserving genomic stability.
Studying rare human genetic diseases often leads to a better understanding of normal cellular functions. Fanconi anemia (FA), for example, has elucidated a novel DNA repair mechanism required for maintaining genomic stability and preventing cancer. The FA pathway, an essential tumor-suppressive pathway, is required for protecting the human genome from a specific type of DNA damage; namely, DNA interstrand cross-links (ICLs). In this review, we discuss the recent progress in the study of the FA pathway, such as the identification of new FANCM-binding partners and the identification of RAD51C and FAN1 (Fanconi-associated nuclease 1) as new FA pathway-related proteins. We also focus on the role of the FA pathway as a potential regulator of DNA repair choices in response to double-strand breaks, and its novel functions during the mitotic phase of the cell cycle. PMID:20713514
Kee, Younghoon; D'Andrea, Alan D
DNA interstrand cross-link repair: understanding role of Fanconi anemia pathway and therapeutic implications.
Interstrand cross-links (ICLs) are extremely toxic DNA lesions that prevent DNA double-helix separation due to the irreversible covalent linkage binding of some agents on DNA strands. Agents that induce these ICLs are thus widely used as chemotherapeutic drugs but may also lead to tumor growth. Fanconi anemia (FA) is a rare genetic disorder that leads to ICL sensitivity. This review provides update on current understanding of the role of FA proteins in repairing ICLs at various stages of cell cycle. We also discuss link between DNA cross-link genotoxicity caused by aldehydes in FA pathway. Besides this, we summarize various ICL agents that act as drugs to treat different types of tumors and highlight strategies for modulating ICL sensitivity for therapeutic interventions that may be helpful in controlling cancer and life-threatening disease, FA. PMID:23859405
Shukla, Pallavi; Solanki, Avani; Ghosh, Kanjaksha; Vundinti, Babu Rao
The role of TMPRSS6/matriptase-2 in iron regulation and anemia.
Matriptase-2, encoded by the TMPRSS6 gene, is a member of the type II transmembrane serine protease family. Matriptase-2 has structural and enzymatic similarities to matriptase-1, which has been implicated in cancer progression. Matriptase-2 was later established to be essential in iron homeostasis based on the phenotypes of iron-refractory iron deficiency anemia identified in mouse models as well as in human patients with TMPRSS6 mutations. TMPRSS6 is expressed mainly in the liver and negatively regulates the production of hepcidin, the systemic iron regulatory hormone. This review focuses on the current understanding of matriptase-2 biochemistry, and its role in iron metabolism and cancer progression. In light of recent investigations, the function of matriptase-2 in hepcidin regulation, how it is being regulated, as well as the therapeutic potential of matriptase-2 are also discussed. PMID:24966834
Wang, Chia-Yu; Meynard, Delphine; Lin, Herbert Y
Thymoma followed by aplastic anemia - two different responses to immunosuppressive therapy
Aplastic anemia is an uncommon complication of thymoma and is extremely infrequent after the surgical removal of a thymic tumor. Aplastic anemia is a result of marrow failure and is characterized by peripheral pancytopenia and severely depressed marrow cellularity; it may be an autoimmune manifestation of thymoma. As thymoma-associated hematological dyscrasias, which include pure red cell aplasia, aplastic anemia and myasthenia gravis, are supposed to be of immunologic origin, two cases of very severe aplastic anemia following the resection of lymphocytic thymomas treated with immunosuppression are herein presented.
de Castro, Murilo Antunes; de Castro, Mariana Antunes; Arantes, Adriano de Moraes; Roberti, Maria do Rosario Ferraz
Anesthesia for a patient with Fanconi anemia for developmental dislocation of the hip: a case report.
Fanconi anemia is a rare autosomal recessive inherited bone marrow failure syndrome with congenital and hematological abnormalities. Literature regarding the anesthetic management in these patients is limited. A management of a developmental dislocation of the hip was described in a patient with fanconi anemia. Because of the heterogeneous nature, a patient with fanconi anemia should be established thorough preoperative evaluation in order to diagnose on clinical features. In conclusion, we preferred caudal anesthesia in this patient with fanconi anemia without thrombocytopenia, because of avoiding from N2O, reducing amount of anesthetic, existing microcephaly, hypothyroidism and elevated liver enzymes, providing postoperative analgesia, and reducing amount of analgesic used postoperatively. PMID:24907882
Dogan, Zafer; Yildiz, Huseyin; Coskuner, Ismail; Uzel, Murat; Garipardic, Mesut
Iron-refractory microcytic anemia as the presenting feature of unicentric Castleman disease in children.
Chronic, iron-refractory, microcytic anemia can be a diagnostic and therapeutic challenge. We report the cases of 2 children with occult, unicentric Castleman disease whose primary presenting feature was a chronic, unexplained, iron-refractory, microcytic anemia. Diagnosis was delayed because neither child had palpable lymphadenopathy and the lymphoproliferation was intra-abdominal. Surgical resection cured the anemia and the Castleman disease. A diagnostic clue to Castleman disease is an elevated concentration of interleukin-6 in blood, which causes anemia by inducing the expression of the iron-regulatory hormone hepcidin. PMID:24367988
Chandrakasan, Shanmuganathan; Bakeer, Nihal; Mo, Jun Qin; Cost, Carrye; Quinn, Charles T
Prevalence of High Blood Pressure, Heart Disease, Thalassemia, Sickle-Cell Anemia, and Iron-Deficiency Anemia among the UAE Adolescent Population
This study examined the prevalence of high blood pressure, heart disease, and medical diagnoses in relation to blood disorders, among 6,329 adolescent students (age 15 to 18 years) who reside in the United Arab Emirates (UAE). Findings indicated that the overall prevalence of high blood pressure and heart disease was 1.8% and 1.3%, respectively. Overall, the prevalence for thalassemia, sickle-cell anemia, and iron-deficiency anemia was 0.9%, 1.6%, and 5%, respectively. Bivariate analysis revealed statistically significant differences in the prevalence of high blood pressure among the local and expatriate adolescent population in the Emirate of Sharjah. Similarly, statistically significant differences in the prevalence of iron-deficiency anemia were observed among the local and expatriate population in Abu Dhabi city, the western region of Abu Dhabi, and Al-Ain. Multivariate analysis revealed the following significant predictors of high blood pressure: residing in proximity to industry, nonconventional substance abuse, and age when smoking or exposure to smoking began. Ethnicity was a significant predictor of heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia. In addition, predictors of thalassemia included gender (female) and participating in physical activity. Participants diagnosed with sickle-cell anemia and iron-deficiency anemia were more likely to experience different physical activities.
Barakat-Haddad, Caroline
Markers of bone turnover are associated with growth and development in young subjects with sickle cell anemia.
Children with sickle cell anemia (SCA) have low bone mass though bone turnover has not been well described. In this study, growth and pubertal development were assessed twice, 1 year apart, in 80 young subjects with type-SS SCA, while whole body bone mineral content (BMC) and density where measured in a subset (n = 46). Markers of bone turnover were measured at the second visit. Bone formation (alkaline phosphatase) was elevated, whereas bone resorption (deoxypyridinoline) was decreased compared to published data in healthy children. Markers of bone turnover correlated with growth velocity and pubertal development but not with changes in bone mass. PMID:17243130
Fung, Ellen B; Kawchak, Deborah A; Zemel, Babette S; Rovner, Alisha J; Ohene-Frempong, Kwaku; Stallings, Virginia A
Prevalence of Anemia in Chronic Kidney Disease in the United States
Anemia is one of the many complications of chronic kidney disease (CKD). However, the current prevalence of anemia in CKD patients in the United States is not known. Data from the National Health and Nutrition Examination Survey (NHANES) in 2007�2008 and 2009�2010 were used to determine the prevalence of anemia in subjects with CKD. The analysis was limited to adults aged >18 who participated in both the interview and exam components of the survey. Three outcomes were assessed: the prevalence of CKD, the prevalence of anemia in subjects with CKD, and the self-reported treatment of anemia. CKD was classified into 5 stages based on the glomerular filtration rate and evidence of kidney damage, in accordance with the guidelines of the National Kidney Foundation. Anemia was defined as serum hemoglobin levels ?12 g/dL in women and ?13 g/dL in men. We found that an estimated 14.0% of the US adult population had CKD in 2007�2010. Anemia was twice as prevalent in people with CKD (15.4%) as in the general population (7.6%). The prevalence of anemia increased with stage of CKD, from 8.4% at stage 1 to 53.4% at stage 5. A total of 22.8% of CKD patients with anemia reported being treated for anemia within the previous 3 months�14.6% of patients at CKD stages 1�2 and 26.4% of patients at stages 3�4. These results update our knowledge of the prevalence and treatment of anemia in CKD in the United States.
Stauffer, Melissa E.; Fan, Tao
Correction of postkidney transplant anemia reduces progression of allograft nephropathy.
Retrospective studies suggest that chronic allograft nephropathy might progress more rapidly in patients with post-transplant anemia, but whether correction of anemia improves renal outcomes is unknown. An open-label, multicenter, randomized controlled trial investigated the effect of epoetin-? to normalize hemoglobin values (13.0-15.0 g/dl, n=63) compared with partial correction of anemia (10.5-11.5 g/dl, n=62) on progression of nephropathy in transplant recipients with hemoglobin <11.5 g/dl and an estimated creatinine clearance (eCrCl) <50 ml/min per 1.73 m(2). After 2 years, the mean hemoglobin was 12.9 and 11.3 g/dl in the normalization and partial correction groups, respectively (P<0.001). From baseline to year 2, the eCrCl decreased by a mean 2.4 ml/min per 1.73 m(2) in the normalization group compared with 5.9 ml/min per 1.73 m(2) in the partial correction group (P=0.03). Furthermore, fewer patients in the normalization group progressed to ESRD (3 versus 13, P<0.01). Cumulative death-censored graft survival was 95% and 80% in the normalization and partial correction groups, respectively (P<0.01). Complete correction was associated with a significant improvement in quality of life at 6 and 12 months. The number of cardiovascular events was low and similar between groups. In conclusion, this prospective study suggests that targeting hemoglobin values ?13 g/dl reduces progression of chronic allograft nephropathy in kidney transplant recipients. PMID:22193388
Choukroun, Gabriel; Kamar, Nassim; Dussol, Bertrand; Etienne, Isabelle; Cassuto-Viguier, Elisabeth; Toupance, Olivier; Glowacki, Fran�ois; Moulin, Bruno; Lebranchu, Yvon; Touchard, Guy; Jaureguy, Ma�t�; Pallet, Nicolas; Le Meur, Yannick; Rostaing, Lionel; Martinez, Frank
Correction of Postkidney Transplant Anemia Reduces Progression of Allograft Nephropathy
Retrospective studies suggest that chronic allograft nephropathy might progress more rapidly in patients with post-transplant anemia, but whether correction of anemia improves renal outcomes is unknown. An open-label, multicenter, randomized controlled trial investigated the effect of epoetin-? to normalize hemoglobin values (13.0�15.0 g/dl, n=63) compared with partial correction of anemia (10.5�11.5 g/dl, n=62) on progression of nephropathy in transplant recipients with hemoglobin <11.5 g/dl and an estimated creatinine clearance (eCrCl) <50 ml/min per 1.73 m2. After 2 years, the mean hemoglobin was 12.9 and 11.3 g/dl in the normalization and partial correction groups, respectively (P<0.001). From baseline to year 2, the eCrCl decreased by a mean 2.4 ml/min per 1.73 m2 in the normalization group compared with 5.9 ml/min per 1.73 m2 in the partial correction group (P=0.03). Furthermore, fewer patients in the normalization group progressed to ESRD (3 versus 13, P<0.01). Cumulative death-censored graft survival was 95% and 80% in the normalization and partial correction groups, respectively (P<0.01). Complete correction was associated with a significant improvement in quality of life at 6 and 12 months. The number of cardiovascular events was low and similar between groups. In conclusion, this prospective study suggests that targeting hemoglobin values ?13 g/dl reduces progression of chronic allograft nephropathy in kidney transplant recipients.
Kamar, Nassim; Dussol, Bertrand; Etienne, Isabelle; Cassuto-Viguier, Elisabeth; Toupance, Olivier; Glowacki, Francois; Moulin, Bruno; Lebranchu, Yvon; Touchard, Guy; Jaureguy, Maite; Pallet, Nicolas; Le Meur, Yannick; Rostaing, Lionel; Martinez, Frank
Aplastic anemia and red cell aplasia due to pentachlorophenol
Repeated exposure to commercial (technical grade) pentachlorophenol (PCP) preceded aplastic anemia in four patients and pure red cell aplasia in two. Two patients developed concomitant or subsequent Hodgkin's disease and acute leukemia. The hematologic, mutagenic, and carcinogenic effect of PCP and its chemical contaminants have been documented in other clinical and experimental reports. In view of the widespread contamination of our environment by PCP, clinicians and public health investigators must seek out such exposure in these and related disorders and initiate measures to reduce it.
Roberts, H.J.
Seizure disorders and anemia associated with chronic borax intoxication
During the course of investigation of two infants with seizure disorders it was discovered that both had been given large amounts of a preparation of borax and honey which resulted in chronic borate intoxication. In one child a profound anemia developed as well. The symptoms of chronic borate intoxication are different from those of the acute poisoning with which we are more familiar. The borax and honey preparations are highly dangerous and should no longer be manufactured or distributed for sale. ImagesFIG. 1FIG. 2
Gordon, A. S.; Prichard, J. S.; Freedman, M. H.
Falls in nursing home residents receiving pharmacotherapy for anemia
Purpose Falls are common among nursing home residents and have potentially severe consequences, including fracture and other trauma. Recent evidence suggests anemia may be independently related to these falls. This study explores the relationship between the use of anemia-related pharmacotherapies and falls among nursing home residents. Methods Forty nursing homes in the United States provided data for analysis. All incidents of falls over the 6-month post-index follow-up period were used to identify the outcomes of falls (?1 fall) and recurrent falls (>1 fall). Logistic regression was used to analyze the relationship between falls and recurrent falls with each of the anemia pharmacotherapies after adjusting for potential confounders. Results A total of 632 residents were eligible for analysis. More than half (57%) of residents were identified as anemic (hemoglobin < 12 g/dL females, or <13 g/dL males). Of anemic residents, 50% had been treated with one or more therapies (14% used vitamin B12, 10% folic acid, 38% iron, 0.3% darbepoetin alfa [DARB], and 1.3% epoetin alfa [EPO]). Rates of falls/ recurrent falls were 33%/18% for those receiving vitamin B12, 40%/16% for folic acid, 27%/14% for iron, 38%/8% for DARB, 18%/2% for EPO, and 22%/11% for those receiving no therapy. In the adjusted models, use of EPO or DARB was associated with significantly lower odds of recurrent falls (odds ratio = 0.06; P = 0.001). Other significant covariates included psychoactive medication use, age 75�84 years, age 85+ years, worsened balance score, and chronic kidney disease (P < 0.05 for all). Conclusion Only half of the anemic residents were found to be using anemia therapy (vitamin B12, folic acid, or iron). There is little evidence to support an association between the use of vitamin B12, folic acid, or iron in reducing the rates of falls and recurrent falls in nursing homes. Reduced odds of recurrent falls were observed for DARB or EPO users.
Reardon, Gregory; Pandya, Naushira; Bailey, Robert A
Pathology Case Study: Abdominal Distension, Weakness and Anemia
NSDL National Science Digital Library
This is a case study presented by the University of Pittsburgh Department of Pathology in which a 75-year-old man presented with abdominal distension, weakness, and anemia following a partial gastrectomy three years prior. Visitors are given both the gross and microscopic description and genetic molecular analysis, including images, and are given the opportunity to diagnose the patient. This is an excellent resource for students in the health sciences to familiarize themselves with using patient history and laboratory results to diagnose disease. It is also a helpful site for educators to use to introduce or test student learning in gastrointestinal pathology.
Finkelstein, Sidney; Wang, Xiaoyan
Pleural solitary fibrous tumor complicated with autoimmune hemolytic anemia.
We herein report a 74-year-old woman who presented with autoimmune hemolytic anemia (AIHA) associated with pleural solitary fibrous tumor (SFT). Her AIHA was initially treated with 1 mg/kg daily of oral prednisolone (PSL) for 2 months, which had a limited effect. However, after surgical tumor resection, the patient showed remarkable improvement of AIHA with normalizations of serum lactate dehydrogenase and bilirubin levels, and we were able to rapidly reduce the PSL dosage. This is the first description of a case of AIHA caused by SFT. PMID:25030571
Takahashi, Hiroshi; Ohkawara, Hiroshi; Ikeda, Kazuhiko; Harada-Shirado, Kayo; Furukawa, Miki; Sukegawa, Masumi; Shichishima-Nakamura, Akiko; Noji, Hideyoshi; Wakamatsu, Saho; Tasaki, Kazuhiro; Suzuki, Hiroyuki; Ogawa, Kazuei; Takeishi, Yasuchika
Reducing Postburn Injury Anemia in a Jehovah's Witness Patient.
Anemia is a complication of severe burn injury. Burn patients who refuse blood transfusions, such as Jehovah's Witnesses, present difficult challenges, and treatment paradigms need to be altered to reduce blood loss and increase red cell restoration. In this report the authors present a case of a 36-year-old Jehovah's Witness who suffered a 35% TBSA burn injury. In addition to standard burn injury treatment, the authors attempted to reduce blood loss with a combination of intraoperative (tranexamic acid) and perioperative (erythropoietin, intravenous iron) strategies. PMID:24121804
Barsun, Alura; Sen, Soman; Palmieri, Tina L; Greenhalgh, David G
Trichoderma longibrachiatum infection in a pediatric patient with aplastic anemia.
Trichoderma longibrachiatum infection of the skin in an 11-year-old child with severe aplastic anemia and prolonged neutropenia is reported. The patient received systemic antifungal therapy and underwent bone marrow transplantation. To our knowledge, this is the first description of T. longibrachiatum infection in a pediatric patient. It also is the first case successfully treated with medical therapy. A review of the literature suggests that Trichoderma spp. are recognized as human pathogens with increasing frequency, particularly for immunocompromised patients, and should be considered in the differential diagnosis of fungal infections in the pediatric population.
Munoz, F M; Demmler, G J; Travis, W R; Ogden, A K; Rossmann, S N; Rinaldi, M G
The Fanconi Anemia Pathway: Repairing the Link Between DNA Damage and Squamous Cell Carcinoma
Fanconi anemia (FA) is a rare inherited recessive disease caused by mutations in one of fifteen genes known to encode FA pathway components. In response to DNA damage, nuclear FA proteins associate into high molecular weight complexes through a cascade of post-translational modifications and physical interactions, followed by the repair of damaged DNA. Hematopoietic cells are particularly sensitive to the loss of these interactions, and bone marrow failure occurs almost universally in FA patients. FA as a disease is further characterized by cancer susceptibility, which highlights the importance of the FA pathway in tumor suppression, and will be the focus of this review. Acute myeloid leukemia is the most common cancer type, often subsequent to bone marrow failure. However, FA patients are also at an extreme risk of squamous cell carcinoma (SCC) of the head and neck and gynecological tract, with an even greater incidence in those individuals who have received a bone marrow transplant and recovered from hematopoietic disease. FA tumor suppression in hematopoietic versus epithelial compartments could be mechanistically similar or distinct. Definition of compartment specific FA activities is now critical to assess the effects of today�s bone marrow failure treatments on tomorrow�s solid tumor development. It is our hope that current therapies can then be optimized to decrease the risk of malignant transformation in both hematopoietic and epithelial cells. Here we review our current understanding of the mechanisms of action of the Fanconi anemia pathway as it contributes to stress responses, DNA repair and squamous cell carcinoma susceptibility.
Romick-Rosendale, Lindsey E.; Lui, Vivian W. Y.; Grandis, Jennifer R.; Wells, Susanne I.
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M
Fanconi anemia is a genetic disease characterized by genomic instability and cancer predisposition. Nine genes involved in Fanconi anemia have been identified; their products participate in a DNA damage-response network involving BRCA1 and BRCA2 (refs. 2,3). We previously purified a Fanconi anemia core complex containing the FANCL ubiquitin ligase and six other Fanconi anemia-associated proteins. Each protein in this complex
Amom Ruhikanta Meetei; Annette L Medhurst; Chen Ling; Yutong Xue; Thiyam Ramsing Singh; Patrick Bier; Jurgen Steltenpool; Stacie Stone; Inderjeet Dokal; Christopher G Mathew; Maureen Hoatlin; Hans Joenje; Johan P de Winter; Weidong Wang
Anemia Treatments Don't Boost Recovery from Brain Injury, Study Finds
... JavaScript. Anemia Treatments Don't Boost Recovery From Brain Injury, Study Finds Medication to boost red blood ... July 1, 2014 Related MedlinePlus Pages Anemia Traumatic Brain Injury TUESDAY, July 1, 2014 (HealthDay News) -- People ...
Association of vitamin D deficiency and hyperparathyroidism with anemia: a cross-sectional study
Vitamin D deficiency and anemia are common in the Middle East, and vitamin D deficiency and hyperparathyroidism have been reported to be associated with an increased prevalence of anemia. In this study, the hypothesis that vitamin D deficiency and hyperparathyroidism may be associated with anemia in a Bahraini population was tested. Association of hyperparathyroidism and vitamin D levels (deficiency and insufficiency) with anemia was investigated in 421 Bahrainis (213 males and 208 females). In females, the prevalence of anemia was significantly associated with vitamin D deficiency independent of parathyroid hormone levels (odds ratio: 2.9; 95% confidence interval: 2.3�10.5; P = 0.001). In females, the prevalence of anemia appeared to be significantly associated with hyperparathyroidism (odds ratio: 2.1; 95% confidence interval: 1.2�3.7; P = 0.01); however, this significant association disappeared when adjusted for vitamin D deficiency (odds ratio: 1.6; 95% confidence interval: 0.75�6.5; P = 0.154). Results from this study suggest that vitamin D deficiency is independently associated with anemia in females but not males. Further studies to determine whether vitamin D supplementation could be used to treat anemia are warranted.
Golbahar, Jamal; Altayab, Diab; Carreon, Elizareth; Darwish, Abdullah
Risk Associated With Preoperative Anemia in Cardiac Surgery A Multicenter Cohort Study
Background�Preoperative anemia is an important risk factor for perioperative red blood cell transfusions, which are associated with postoperative morbidity and mortality. Whether preoperative anemia also is an independent risk factor for adverse outcomes after cardiac surgery, however, has not been fully elucidated. Methods and Results�In this multicenter cohort study, data were collected on 3500 consecutive patients who underwent cardiac surgery
Keyvan Karkouti; Duminda N. Wijeysundera; W. Scott Beattie
Anemia of chronic disease and defective erythropoietin production in patients with celiac disease
Background Anemia due to hematinic deficiencies is common in patients with untreated celiac disease. Although celiac disease is a chronic condition characterized by an intense inflammator y response of the intestinal mucosa, scant data are available about the prevalence of anemia of chronic disease in celiac disease. Design and Methods One hundred and fifty-two patients with celiac disease at presentation
Gaetano Bergamaschi; Konstantinos Markopoulos; Riccardo Albertini; Federico Biagi; Rachele Ciccocioppo; Eloisa Arbustini; Gino Roberto Corazza
Intravenous Iron Versus Oral Iron in the Treatment of Postpartum Iron Deficiency Anemia
Background: Postpartum anemia can develop after delivery because of unforeseen medical problems during and after delivery which could complicate a mother�s ability to properly care for her newborn child. The current treatment for postpartum anemia is oral iron supplementation but this treatment has been associated with several gastrointestinal side effects. Alternative treatments include blood transfusions and intravenous (IV) iron therapy.
Meghan Crowley
Prevention of Iron-Deficiency Anemia in Infants and Children of Preschool Age.
ERIC Educational Resources Information Center
Iron-deficiency anemia is almost certainly the most prevalent nutritional disorder among infants and young children in the United States. Anemia is frequently seen among children of low socioeconomic status but is probably also the most frequent nutritional deficiency disease seen among children cared for by private doctors. Possible reasons for�
Fomon, Samuel J.
Malaria and Anemia among Children in a Low Resource Setting In Nigeria
Background This study aimed at determining the prevalence of malaria and anemia among children in rural community of Okada, Edo State Nigeria, as well as to assess the level of use of Insecticide treated bed nets and its impact on prevalence of malaria and anemia among study population. Methods Thick blood films from 226 children with signs and symptoms of malaria in Okada community were stained and examined for presence of malaria parasites. Hemoglobin concentration of all children was also determined using standard method. Result A total of 185 (81.9%) children were infected with malaria parasite. Malaria parasitaemia was significantly affected by age (P =0.003). A significantly higher number of positive cases of malaria and anemia was observed in rainy season as compared to dry season (P<0.05). The prevalence of anemia in children was 47.3%. Malaria was a risk factor for development of anemia in children (OR=2.551; 95% CI=1.227, 5.305; P=0.015). Use of insecticide treated bed nets was recorded in 11(4.9%) of children studied, and did not significantly reduce the prevalence of malaria and anemia. However among malaria parasite infected children, its use significantly reduced the prevalence of anemia (OR=0.126; 95%CI=0.015, 1.047; P=0.031). Conclusion Malaria and anemia among children was high malaria intervention progammes by relevant agencies is strongly advocated.
Oladeinde, BH; Omoregie, R; Olley, M; Anunibe, JA; Onifade, AA; Oladeinde, OB
Localization of Fanconi Anemia C Protein to the Cytoplasm of Mammalian Cells
Features of chromosomal aberrations, hypersensitivity to DNA crosslinking agents, and predisposition to malignancy have suggested a fundamental anomaly of DNA repair in Fanconi anemia. The function of the recently isolated FACC (Fanconi anemia group C complementing) gene for a subset of this disorder is not yet known. The notion that FACC plays a direct role in DNA repair would predict
Hagop Youssoufian
Bloom's syndrome and Fanconi's anemia: Demonstration of two distinctive patterns of chromosome disruption and rearrangement
A comparison of the patterns of chromosome breakage and rearrangements was made using lymphocytes from one patient with Bloom's syndrome and one with Fanconi's anemia. Chromatid and isochromatid gaps and breaks were increased in frequency in both conditions. In Fanconi's anemia, more aberrations per aberrant cell occurred than in Bloom's syndrome. The relative numbers of the various classes of interchanges
Traute M. Schroeder; James German
Negative impact of pretreatment anemia on local control after neoadjuvant chemoradiotherapy and surgery for rectal cancer
Purpose Although anemia is considered to be a contributor to intra-tumoral hypoxia and tumor resistance to ionizing radiation in cancer patients, the impact of pretreatment anemia on local control after neoadjuvant concurrent chemoradiotherapy (NACRT) and surgery for rectal cancer remains unclear. Materials and Methods We reviewed the records of 247 patients with locally advanced rectal cancer who were treated with NACRT followed by curative-intent surgery. Results The patients with anemia before NACRT (36.0%, 89/247) achieved less pathologic complete response (pCR) than those without anemia (p = 0.012). The patients with pretreatment anemia had worse 3-year local control than those without pretreatment anemia (86.0% vs. 95.7%, p = 0.005). Multivariate analysis showed that pretreatment anemia (p = 0.035), pathologic tumor and nodal stage (p = 0.020 and 0.032, respectively) were independently significant factors for local control. Conclusion Pretreatment anemia had negative impacts on pCR and local control among patients who underwent NACRT and surgery for rectal cancer. Strategies maintaining hemoglobin level within normal range could potentially be used to improve local control in rectal cancer patients.
Lee, Hyebin; Park, Won; Choi, Doo Ho; Kim, Young-Il; Park, Young Suk; Park, Joon Oh; Chun, Ho-Kyung; Lee, Woo-Yong; Kim, Hee Cheol; Yun, Seong Hyeon; Cho, Yong Beom; Park, Yoon Ah
Prevalence of anemia in chronic obstructive pulmonary disease: comparison to other chronic diseases.
Chronic obstructive pulmonary disease (COPD) is a multisystemic inflammatory disease characterized by pulmonary and extrapulmonary symptoms. The impaired lung function has long-term implications on metabolism and homeostasis of many organ systems such as the skeleton, heart, brain and skeletal muscle. The occurrence and prevalence of anemia in COPD has rarely been studied. Anemia is such a common and simple clinical finding that we may underestimate its physiological relevance in COPD. The aim of the study was to retrospectively investigate the prevalence of anemia in a large population of COPD patients and to compare it to patients with chronic heart failure, renal insufficiency, cancer and asthma. A population of 7337 patients that was treated in the University Hospital Charit�, Berlin, Germany, from 1996 to 2003 was subsetted according to the ICD-9/10 code of the discharge diagnoses into the above-mentioned diagnoses groups. The overall prevalence of anemia in COPD patients was 23.1%. It was comparable to the prevalence of anemia we found in patients with chronic heart failure (23.3%). Patients with renal insufficiency and cancer presented the highest anemia frequencies. The high prevalence of anemia in hospitalised COPD patients that were treated mostly for exacerbations gives evidence that anemia is also a comorbidity in COPD and may contribute to exercise limitation and dyspnoea. PMID:16242192
John, Matthias; Lange, Andre; Hoernig, Soeren; Witt, Christian; Anker, Stefan D
Erythropoiesis Stimulatory Agent Resistant Anemia in Dialysis Patients: Review of Causes and Management
Despite new therapeutic options and treatment strategies, anemia still remains one of the major complications of chronic kidney disease (CKD), especially in patients undergoing chronic hemodialysis for end-stage renal disease. Successful management of anemia is a central part of patient care that may improve clinical outcomes. Although the National Kidney Foundation Dialysis Outcomes Quality Initiative (NKF-DOQI) working group reformulated its
Mehmet Kanbay; Mark A. Perazella; Benan Kasapoglu; Mustafa Koroglu; Adrian Covic
Socio-Ecological Factors Affecting Pregnant Women's Anemia Status in Freetown, Sierra Leone
ERIC Educational Resources Information Center
Background: Sierra Leone has high maternal mortality. Socio-ecological factors are considered contributing factors to this high mortality. Anemia is considered to be a direct cause of 4% of maternal deaths and an indirect cause of 20-40% of maternal deaths. Purpose: The current study explores socio-ecological contributing factors to the anemia�
M'Cormack, Fredanna; Drolet, Judy
Prevalence and Associated Risk Factors of Anemia in Children and Adolescents with Intellectual Disabilities
ERIC Educational Resources Information Center
Anemia is known to be a significant public health problem in many countries. Most of the available information is incomplete or limited to special groups such as people with intellectual disability. The present study aims to provide the information of anemia prevalence and associated risk factors of children and adolescents with intellectual�
Lin, Jin-Ding; Lin, Pei-Ying; Lin, Lan-Ping; Hsu, Shang-Wei; Loh, Ching-Hui; Yen, Chia-Feng; Fang, Wen-Hui; Chien, Wu-Chien; Tang, Chi-Chieh; Wu, Chia-Ling
Cancer-related anemia and recombinant human erythropoietin�an updated overview
For cancer patients, anemia can be a debilitating problem that negatively influences their overall quality of life and worsens their prognosis. The condition is caused either by the cancer itself or by cytotoxic treatment. Anemia is the primary indication for transfusion of red blood cells, but the development of recombinant human erythropoietins (epoetins) provides an alternative to red blood cell
Julia Bohlius; Olaf Weingart; Sven Trelle; Andreas Engert
Treating anemia of chronic kidney disease in the primary care setting: cardiovascular outcomes and management recommendations
Anemia is an underrecognized but characteristic feature of chronic kidney disease (CKD), associated with significant cardiovascular morbidity, hospitalization, and mortality. Since their inception nearly two decades ago, erythropoiesis-stimulating agents (ESAs) have revolutionized the care of patients with renal anemia, and their use has been associated with improved quality of life and reduced hospitalizations, inpatient costs, and mortality. Hemoglobin targets ?13
Rebecca J Schmidt; Cheryl L Dalton
Mobilization and collection of peripheral blood CD341 cells from patients with Fanconi anemia
A potential therapeutic option for patients with Fanconi anemia is collection of pe- ripheral blood stem cells prior to the development of severe pancytopenia. These hematopoietic cells potentially could be infused when symptomatic bone marrow failure develops, as autologous rescue after chemotherapy in the event of leukemic transformation, or as targets for gene therapy. Eight patients with Fanconi anemia were
James M. Croop; Ryan Cooper; Christine Fernandez; Vicki Graves; Susan Kreissman; Helmut Hanenberg; Franklin O. Smith; David A. Williams
Epidemiology of iron deficiency anemia in Zanzibari schoolchildren: the importance of hookworms13
Anemia is estimated to affect one-half of school-age children in developing countries. The school years are an opportune time to intervene, and interventions must be based on sound epidemiologic understanding of the problem in this age group. We report on the distribution of iron deficiency and anemia across age, sex, anthropometric indexes, and parasitic infections in a representative sample of
Rebecca J Stoltzfus; Hababu M Chwaya; James M Tielsch; Kerry J Schulze; Marco Albonico; Lorenzo Savioli
Common Misconceptions in the Diagnosis and Management of Anemia in Inflammatory Bowel Disease
Anemia is the most common systemic complication of inflammatory bowel disease (IBD); so common that it is almost invariably not investigated and rarely treated. Several misconceptions are the reason for these clinical errors, and our goal will be to review them. The most common misconceptions are: anemia is uncommon in IBD; iron deficiency is also uncommon; just by treating the
Javier P. Gisbert; Fernando Gomoll�n
Anemia in inflammatory bowel disease: A neglected issue with relevant effects
Anemia, a common complication associated with inflammatory bowel disease (IBD), is frequently overlooked in the management of IBD patients. Unfortunately, it represents one of the major causes of both decreased quality of life and increased hospital admissions among this population. Anemia in IBD is pathogenically complex, with several factors contributing to its development. While iron deficiency is the most common cause, vitamin B12 and folic acid deficiencies, along with the effects of pro-inflammatory cytokines, hemolysis, drug therapies, and myelosuppression, have also been identified as the underlying etiology in a number of patients. Each of these etiological factors thus needs to be identified and corrected in order to effectively manage anemia in IBD. Because the diagnosis of anemia in IBD often presents a challenge, combinations of several hematimetric and biochemical parameters should be used. Recent studies underscore the importance of determining the ferritin index and hepcidin levels in order to distinguish between iron deficiency anemia, anemia due to chronic disease, or mixed anemia in IBD patients. With regard to treatment, the newly introduced intravenous iron formulations have several advantages over orally-administered iron compounds in treating iron deficiency in IBD. In special situations, erythropoietin supplementation and biological therapies should be considered. In conclusion, the management of anemia is a complex aspect of treating IBD patients, one that significantly influences the prognosis of the disease. As a consequence, its correction should be considered a specific, first-line therapeutic goal in the management of these patients.
Guagnozzi, Danila; Lucendo, Alfredo J
Prevalence of anemia in pregnant women and its effect on neonatal outcomes in Northeast India.
Abstract Objectives: To determine the prevalence of anemia in pregnant women and characterize its effect on neonatal outcome in Northeast India. Patients and methods: Four hundred and seventy mothers and their newborn infants during a one month period were included. The association between maternal hemoglobin (Hb) at delivery and neonatal outcomes were determined. Results: Anemia (Hb?110?g/L) was present in 421 (89.6%) mothers with 35 (8.3%) having severe anemia(Hb?70?g/L). After adjusting for maternal and neonatal variables, each 10?g/L decrease in maternal Hb was associated with 0.18 week decrease in gestational length (p?=?0.003) and 21?g decrease in birth weight (p?=?0.093). Severe maternal anemia was associated with 0.63week (95% CI, 0.03-1.23week) shorter gestation, 481?g (95% CI, 305-658?g) lower birth weight and 89% increased risk of small-for-gestation (OR 1.89, 95% CI, 1.25-2.86)in the offspring, compared with those born to mothers without anemia (p?0.001). Conclusion: Maternal anemia was highly prevalentin this population. Lower gestational age and birth weight, and increased risk of small-for-gestation were associated with maternal anemia, especially when maternal Hb was <80?g/L. Maternal anemia needs urgent attention to improve neonatal outcome in this population. PMID:24041147
Bora, Reeta; Sable, Corey; Wolfson, Julian; Boro, Kanta; Rao, Raghavendra
Sideropenic Anemia and Celiac Disease (One Study, Two Points of View)
Recent studies have pointed to the relationshipbetween iron deficiency anemia and celiac disease,although data on the prevalence of celiac disease inanemic patients have been conflicting, and there is no agreement on the best screening procedurefor CD in these patients. Our aims were to evaluate therelationship between anemia and celiac disease (CD) fromtwo different points of view � the hematology clinic
Antonio Carroccio; Emilio Iannitto; Francesca Cavataio; Giuseppe Montalto; Mario Tumminello; Piero Campagna; Maria Grazia Lipari; Alberto Notarbartolo; Giuseppe Iacono
Anemia in inflammatory bowel disease: a neglected issue with relevant effects.
Anemia, a common complication associated with inflammatory bowel disease (IBD), is frequently overlooked in the management of IBD patients. Unfortunately, it represents one of the major causes of both decreased quality of life and increased hospital admissions among this population. Anemia in IBD is pathogenically complex, with several factors contributing to its development. While iron deficiency is the most common cause, vitamin B12 and folic acid deficiencies, along with the effects of pro-inflammatory cytokines, hemolysis, drug therapies, and myelosuppression, have also been identified as the underlying etiology in a number of patients. Each of these etiological factors thus needs to be identified and corrected in order to effectively manage anemia in IBD. Because the diagnosis of anemia in IBD often presents a challenge, combinations of several hematimetric and biochemical parameters should be used. Recent studies underscore the importance of determining the ferritin index and hepcidin levels in order to distinguish between iron deficiency anemia, anemia due to chronic disease, or mixed anemia in IBD patients. With regard to treatment, the newly introduced intravenous iron formulations have several advantages over orally-administered iron compounds in treating iron deficiency in IBD. In special situations, erythropoietin supplementation and biological therapies should be considered. In conclusion, the management of anemia is a complex aspect of treating IBD patients, one that significantly influences the prognosis of the disease. As a consequence, its correction should be considered a specific, first-line therapeutic goal in the management of these patients. PMID:24707137
Guagnozzi, Danila; Lucendo, Alfredo J
[Serological characteristics and transfusion efficacy evaluation in 61 cases of autoimmune hemolytic anemia].
This study was aimed to analyze the serological characteristics, efficacy and safety of incompatible RBC transfusion in patients with autoimmune hemolytic anemia (AIHA). The patients with idiopathic or secondary AIHA were analyzed retrospectively, then the serological characteristics and the incidence of adverse transfusion reactions were investigated, and the efficacy and safety of incompatible RBC transfusion were evaluated according to the different autoantibody type and infused different RBC components. The results showed that out of 61 cases of AIHA, 21 cases were idiopathic, and 40 cases were secondary. 8 cases (13.1%) had IgM cold autoantibody, 50 cases (82.0%) had IgG warm autoantibody, and 3 cases (4.9%) had IgM and IgG autoantibodies simultaneously. There were 18 cases (29.5%) combined with alloantibodies. After the exclusion of alloantibodies interference, 113 incompatible RBC transfusions were performed for 36 patients with AIHA, total efficiency rate, total partial efficiency rate and total inefficiency rate were 56.6%, 15.1% and 28.3%, respectively. Incompatible RBC transfusions were divided into non-washed RBC group and washed RBC group. The efficiency rate, partial efficiency rate and inefficiency rate in non-washed RBC group were 57.6%, 13.0% and 29.4%, respectively. The efficiency rate, partial efficiency rate and inefficiency rate in washed RBC group were 53.6%, 21.4% and 25.0%, respectively. There was no significant difference of transfusion efficacy (P > 0.05) in two groups. Incompatible RBC transfusions were also divided into IgM cold autoantibody group and IgG warm autoantibody group. The efficiency rate, partial efficiency rate and inefficiency rate in IgM cold autoantibody group were 46.2%, 30.8% and 29.4%, respectively. The efficiency rate, partial efficiency rate and inefficiency rate in IgG warm autoantibody group were 56.7%, 13.4% and 29.9%, respectively. There was no significant difference of transfusion efficacy (P > 0.05 ) in two groups. Hemolytic transfusion reaction was not observed in all incompatible RBC transfusions. It is concluded that the same ABO type of non-washed RBC transfusion and O type washed RBC transfusion are all relatively safe for the AIHA patients with severe anemia after the exclusion of alloantibodies interference. There is no significant difference of transfusion efficacy in two groups. The same ABO type of non-washed RBC transfusion is more convenient and efficient than washed RBC transfusion, and excessive use of type O RBCs can also be avoided. PMID:24156449
Yu, Yang; Sun, Xiao-Lin; Ma, Chun-Ya; Guan, Xiao-Zhen; Zhang, Xiao-Juan; Chen, Lin-Fen; Wang, Ke; Luo, Yuan-Yuan; Wang, Yi; Li, Ming-Wei; Feng, Yan-Nan; Tong, Shan; Yu, Shuai; Yang, Lu; Wu, Yue-Qing; Zhuang, Yuan; Pan, Ji-Chun; Fen, Qian; Zhang, Ting; Wang, De-Qing
The First Observation of Homozygous Hemoglobin S.Alpha Thalassemia Disease and Two Types of Sickle Cell Thalassemia Disease : (a) Sickle Cell-Alpha Thalassemia Disease, (b) Sickle Cell-Beta Thalassemia Disease
S ICKLE CELL-THALASSEMIA DISEASE is known to be a severe or moderately severe type of congenital hemolytic anemia. The clinical and hematologic pictures of this hemoglobinopathy are usually similar to those found in the intermediate type of Cooley's anemia; however, mild or asympto- matic cases have been reported by various investigators.?6 Singer et al.1 have described four Negro patients with
Association between polymorphisms in PDCD1 gene and aplastic anemia in Chinese Han population.
Single nucleotide polymorphism (SNP) of programmed cell death 1 (PD-1, encoded by PDCD1) has been reported to be associated with several autoimmune diseases including rheumatoid arthritis (RA), Graves' disease and multiple sclerosis (MS). In order to study the correlation between PD-1 gene polymorphism and aplastic anemia in a Chinese Han population, two SNPs, PD-1.1 G/A (rs36084323) and PD-1.6 G/A (rs10204525), were genotyped in 166 patients with aplastic anemia and 144 healthy controls by direct sequencing. All genotype distributions in both patients and controls were in Hardy-Weinberg equilibrium. Associations of genotypes and alleles with aplastic anemia were analyzed. The results suggested that the G allele of PD-1.1 was associated with an increased risk for aplastic anemia, while SNP of PD-1.6 was not associated with aplastic anemia in a Chinese Han population. PMID:23373967
Wu, Zixia; Miao, Miao; Qiu, Yuhua; Qin, Zhenghong; Wang, Jin; Jiang, Yiguo; Ming, Zhijun; Zhang, Xueguang
Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.
Fanconi anemia is a rare genetic disease characterized by bone marrow failure, multiple congenital malformations, and an increased susceptibility to malignancy. At least 15 genes have been identified that are involved in the pathogenesis of Fanconi anemia. However, it is still a challenge to assign the complementation group and to characterize the molecular defects in patients with Fanconi anemia. In the current study, whole exome sequencing was used to identify the affected gene(s) in a boy with Fanconi anemia. A recurring, non-synonymous mutation was found (c.3971C>T, p.P1324L) as well as a novel frameshift mutation (c.989_995del, p.H330LfsX2) in FANCA gene. Our results indicate that whole exome sequencing may be useful in clinical settings for rapid identification of disease-causing mutations in rare genetic disorders such as Fanconi anemia. PMID:23973728
Zheng, Zhaojing; Geng, Juan; Yao, Ru-En; Li, Caihua; Ying, Daming; Shen, Yongnian; Ying, Lei; Yu, Yongguo; Fu, Qihua
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.
The primary cause of aplastic anemia remains unknown in many patients. The aim of this study was to clarify the genetic cause of familial aplastic anemia. Genomic DNA of an affected individual from a multiplex consanguineous family was hybridized to a Nimblegen exome library before being sequenced on a GAIIx genome analyzer. Once the disease causing homozygous mutation had been confirmed in the consanguineous family, this gene was then analyzed for mutation in 33 uncharacterized index cases of aplastic anemia (<13 years) using denaturing HPLC. Abnormal traces were confirmed by direct sequencing. Exome sequencing identified a novel homozygous nonsense mutation in the thrombopoietin receptor gene MPL. An additional novel homozygous MPL mutation was identified in the screen of 33 aplastic anemia patients. This study shows for the first time a link between homozygous MPL mutations and familial aplastic anemia. It also highlights the important role of MPL in trilineage hematopoiesis. PMID:22180433
Walne, Amanda J; Dokal, Arran; Plagnol, Vincent; Beswick, Richard; Kirwan, Michael; de la Fuente, Josu; Vulliamy, Tom; Dokal, Inderjeet
Subtherapeutic erythropoietin and insulin-like growth factor-1 correct the anemia of chronic renal failure in the mouse
Subtherapeutic erythropoietin and insulin-like growth factor-1 correct the anemia of chronic renal failure in the mouse. Chronic renal failure (CRF) is associated with a hyporegenerative anemia, which is caused primarily by inadequate production of erythropoietin (EPO) by the diseased kidneys and is responsive to exogenous EPO administration. Little is known about compensatory mechanisms that might supervene in anemia with low
Alan G Brox; Feng Zhang; Harvey Guyda; Raymonde F Gagnon
Studies on Erythrocyte Destruction Due to Strenuous Muscular Exercise Which Causes 'Sport Anemia,' and Analysis of Causes of 'March Hematuria.'.
National Technical Information Service (NTIS)
It is well known that a temporary anemia occurs frequently in the early period of training to the strenuous physical exercise. This anemia is named 'sports anemia'. Yamada clarified its cause as due to an increased fragility of the red blood cells. In oth...
K. Hirakawa H. Yoshimura
PurposePreviously reported association of anemia with shorter survival in newly diagnosed metastatic prostate cancer may simply reflect extent of disease. The impact of anemia on response to androgen deprivation is not known. We examined the prognostic value of anemia in a multivariate analysis that included disease extent and other tumor and demographic covariates in 957 patients starting hormonal therapy for
Efficacy of gluten-free diet alone on recovery from iron deficiency anemia in adult celiac patients
OBJECTIVE:Iron deficiency anemia has been reported as the most frequent extraintestinal symptom in adult celiac disease. Prospective studies on the effect of gluten-free diet on recovery from iron deficiency anemia are lacking. The aim of this study was to verify in adult patients with celiac disease the efficacy of and the time course of recovery from iron deficiency anemia by
Bruno Annibale; Carola Severi; Antonio Chistolini; Giorgio Antonelli; Edith Lahner; Adriana Marcheggiano; Carlo Iannoni; Bruno Monarca; Gianfranco Delle Fave
Underlying Factors Associated with Anemia in Amazonian Children: A Population-Based, Cross-Sectional Study
Background Although iron deficiency is considered to be the main cause of anemia in children worldwide, other contributors to childhood anemia remain little studied in developing countries. We estimated the relative contributions of different factors to anemia in a population-based, cross-sectional survey. Methodology We obtained venous blood samples from 1111 children aged 6 months to 10 years living in the frontier town of Acrel�ndia, northwest Brazil, to estimate the prevalence of anemia and iron deficiency by measuring hemoglobin, erythrocyte indices, ferritin, soluble transferrin receptor, and C-reactive protein concentrations. Children were simultaneously screened for vitamin A, vitamin B12, and folate deficiencies; intestinal parasite infections; glucose-6-phosphate dehydrogenase deficiency; and sickle cell trait carriage. Multiple Poisson regression and adjusted prevalence ratios (aPR) were used to describe associations between anemia and the independent variables. Principal Findings The prevalence of anemia, iron deficiency, and iron-deficiency anemia were 13.6%, 45.4%, and 10.3%, respectively. Children whose families were in the highest income quartile, compared with the lowest, had a lower risk of anemia (aPR, 0.60; 95%CI, 0.37�0.98). Child age (<24 months, 2.90; 2.01�4.20) and maternal parity (>2 pregnancies, 2.01; 1.40�2.87) were positively associated with anemia. Other associated correlates were iron deficiency (2.1; 1.4�3.0), vitamin B12 (1.4; 1.0�2.2), and folate (2.0; 1.3�3.1) deficiencies, and C-reactive protein concentrations (>5 mg/L, 1.5; 1.1�2.2). Conclusions Addressing morbidities and multiple nutritional deficiencies in children and mothers and improving the purchasing power of poorer families are potentially important interventions to reduce the burden of anemia.
Cardoso, Marly A.; Scopel, Kezia K.G.; Muniz, Pascoal T.; Villamor, Eduardo; Ferreira, Marcelo U.
Anemia prevalence and treatment practice in patients with non-myeloid tumors receiving chemotherapy
Purpose To describe the prevalence and management of anemia in cancer patients. Methods This cross-sectional, observational survey was conducted in Italy and Austria. Centers prespecified one day, during a 4-month enrollment window, to report specific data collected during normal clinical practice for patients with non-myeloid tumors attending for chemotherapy (�radiotherapy) treatment. The primary endpoint was the prevalence of anemia as determined using a prespecified algorithm: hemoglobin (Hb) ?10 g/dL on/within 3 days prior to visit; ongoing anemia treatment; physician diagnosis of anemia, together with ?1 anemia symptom. Results Between November 18, 2010 and March 18, 2011, data for 1412 patients were collected (Italy n = 1130; Austria n = 282). Most patients (n = 1136; 80%) had solid tumors; 809 (57%) had received ?3 chemotherapy cycles. The prevalence of anemia was 32% (95% confidence interval: 29.4%�34.2%); 196 patients (14%) were deemed anemic based on Hb ?10 g/dL, 131 (9%) on ongoing anemia treatment, and 121 (9%) on physician diagnosis/anemia symptom. Overall, 1153 patients (82%) had Hb data; mean (standard deviation [SD]) Hb levels were 11.7 (1.7) g/dL. In total, 456 patients (32%) had anemia symptoms: fatigue (n = 392; 28%), depression (n = 122; 9%), and dyspnea (n = 107; 8%) were most common. Fifty-one patients (4%) had had their current chemotherapy cycle delayed due to anemia. On visit day, or ?28 days prior, 91 (6%), 188 (13%), and 81 patients (6%) had evidence of whole blood/red blood cell transfusion, erythropoiesis-stimulating agent use, or iron use, respectively. Conclusion On the prespecified study day, one-third of patients with non-myeloid tumors undergoing chemotherapy were found to be anemic and 13% had evidence of erythropoiesis-stimulating agent use then or in the 28 days prior.
Merlini, Laura; Carteni, Giacomo; Iacobelli, Stefano; Stelitano, Caterina; Airoldi, Mario; Balcke, Peter; Keil, Felix; Haslbauer, Ferdinand; Belton, Laura; Pujol, Beatriz
The prevalence of nutritional anemia in pregnancy in an east Anatolian province, Turkey
Background Anemia is considered a severe public health problem by World Health Organization when anemia prevalence is equal to or greater than 40% in the population. The purpose of this study was to determine the anemia prevalence with the associated factors in pregnant women and to determine the serum iron, folate and B12 vitamin status in anaemic pregnants in Malatya province. Methods This is a cross-sectional survey. A multi-sage stratified probability-proportional-to-size cluster sampling methodology was used. A total of 823 pregnant women from sixty clusters were studied. Women were administered a questionnaire related with the subject and blood samples were drawn. Total blood count was performed within four hours and serum iron, folate and B12 vitamin were studied after storing sera at -20 C for six months. Results Anemia prevalence was 27.1% (Hb < 11.0 gr/dl). Having four or more living children (OR = 2.2), being at the third trimester (OR = 2.3) and having a low family income (OR = 1.6) were determined as the independent predictors of anemia in pregnancy. Anemia was also associated with soil eating (PICA) in the univariate analysis (p < 0.05). Of anaemic women, 50.0% had a transferrin saturation less than 10% indicating iron deficiency, 34.5% were deficient in B12 vitamin and 71.7% were deficient in folate. Most of the anemias were normocytic-normochromic (56.5%) indicating mixed anemia. Conclusions In Malatya, for pregnant women anemia was a moderate public health problem. Coexisting of iron, folate and B vitamin deficiencies was observed among anaemics. To continue anemia control strategies with reasonable care and diligence was recommended.
Corpus luteum hemorrhage in a patient with aplastic anemia.
Corpus luteum hemorrhage may lead to a life-threatening intraperitoneal hemorrhage in women with bleeding disorders. A 17-year-old girl with aplastic anemia presented to the emergency ward with complaints of severe abdominal pain for the last 24h. On examination, she was noted to be pale with circulatory compromise. Transabdominal pelvic ultrasonography revealed a left complex adnexal mass, 6.9�5.1�5.1cm(3) in size, with a large anechoic area of fluid in the abdomen. On laparoscopic exploration, there was a massive hemoperitoneum (2.6L) with a ruptured corpus luteum on the surface of the left ovary. Hemostatic electric coagulation was successfully applied to the bleeding surface. The patient recovered without incident and was transferred to a special hospital for blood disease treatment one week after surgery. We concluded that corpus luteum hemorrhage in women with aplastic anemia can cause therapeutic difficulties. Laparoscopy is feasible for the management of a massive intraperitoneal hemorrhage secondary to a ruptured corpus luteum in such patients. PMID:22640265
Sun, Wen-Chao; Li, Wei; Chen, Qi-Hui; Tong, Jin-Yi