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What is A 6 months old infant with Hb of 6 gm% has peripheral blood showing target cells & increased reticulocytes. Family history of similar complaints is Positive. Diagnosis can be best done with which of the following? and explain in detail?
* Presence of - Anemia (Hb < 6%), Target cells, Increased reticulocytes with a positive family history - suggest the diagnosis of thalassemia * Out of investigations given in question, Hb electrophoresis helps the most in diagnosing Thalassemia. BETA-THALASSEMIA: - DEFECT-Decreased production of Beta globin chains. - COMMON MUTATIONS IN INDIA: IVS 1-5 G - C IVS 1-1 G - T Codon 41/42 Codon 819 619 by deletion - CLASSIFICATION: Thalassemia trait: - Heterozygous state - Mild Anemia (HbA2>= 3.5%) Thalassemia intermediate (b0/b+): - Moderate anaemia, Hepatosplenomegaly ,HbF elevated Thalassemia major (b0/b0): - Homozygous, severe anaemia, Hepatosplenomegaly ,HbF markedly elevated, require regular transfusions