PMC5358460_01
Genealogical trees of the reported families.
CRIHEM2017-2769570.001.jpg
PMC5358460_01_CRIHEM2017-2769570.001.jpg
fig1
Two siblings, born after uncomplicated pregnancy form unrelated parents, were studied (Figure 1); the father (AI.1) was reported to have chronic haemolytic anaemia of unknown origin.
PMC5358460_02
Light microscopy of peripheral blood, 63x.
CRIHEM2017-2769570.002.jpg
PMC5358460_04_CRIHEM2017-2769570.002.jpg
fig2
Figure 2). Ferritin levels and transferrin saturation were increased in the presence of a normal HFE genotype. Case BIII.1 had mild microcytic anaemia, reticulocytosis, and increased ferritin levels; 17% of stomatocytes were detected at blood smear examination (Table 1 and Figure 2); the molecular testing for HBB gene revealed the presence of the splicing mutation c.93-21G>A at heterozygote level, confirming the beta-thalassemia trait.
Results of LoRRca Osmoscan analysis in the affected patients compared to a normal control performed by Laser-Assisted Optical Rotation Cell Analyzer (LoRRca MaxSis, Mechatronics, Hoorn, The Netherlands). The osmotic gradient curves reflect RBC deformability as a continuous function of suspending medium osmolality. The following parameters were evaluated: EImax (maximal deformability, reflecting mean cellular surface area), Omin (osmolality at which deformability reaches its minimum, reflecting mean cellular surface-to-volume ratio), and Ohyper (the osmolality in the hypertonic region corresponding to 50% of the EImax, reflecting mean cellular hydration status).
CRIHEM2017-2769570.003.jpg
PMC5358460_04_CRIHEM2017-2769570.003.jpg
fig3
LoRRca Osmoscan (Figure 3(b)) showed the pronounced left shift of the curve typical of dehydrated stomatocytosis (Omin 71 and 76, resp., n.v. 136-151; Ohyper 342 and 352, n.v. 447-474).
PMC5358460_03
PMC5358460_04
Light microscopy of peripheral blood, 63x.
CRIHEM2017-2769570.002.jpg
PMC5358460_04_CRIHEM2017-2769570.002.jpg
fig2
Figure 2). Ferritin levels and transferrin saturation were increased in the presence of a normal HFE genotype. Case BIII.1 had mild microcytic anaemia, reticulocytosis, and increased ferritin levels; 17% of stomatocytes were detected at blood smear examination (Table 1 and Figure 2); the molecular testing for HBB gene revealed the presence of the splicing mutation c.93-21G>A at heterozygote level, confirming the beta-thalassemia trait.
Results of LoRRca Osmoscan analysis in the affected patients compared to a normal control performed by Laser-Assisted Optical Rotation Cell Analyzer (LoRRca MaxSis, Mechatronics, Hoorn, The Netherlands). The osmotic gradient curves reflect RBC deformability as a continuous function of suspending medium osmolality. The following parameters were evaluated: EImax (maximal deformability, reflecting mean cellular surface area), Omin (osmolality at which deformability reaches its minimum, reflecting mean cellular surface-to-volume ratio), and Ohyper (the osmolality in the hypertonic region corresponding to 50% of the EImax, reflecting mean cellular hydration status).
CRIHEM2017-2769570.003.jpg
PMC5358460_04_CRIHEM2017-2769570.003.jpg
fig3
LoRRca Osmoscan (Figure 3(b)) showed the pronounced left shift of the curve typical of dehydrated stomatocytosis (Omin 71 and 76, resp., n.v. 136-151; Ohyper 342 and 352, n.v. 447-474).