A 5 year old girl presents with pallor, abdominal examination shows hepatosplenomegaly. Which of the following test is most appropriate in making the diagnosis?
Correct Answer: Hb Electrophoresis
Description: The child is showing features of beta thalssemia intermedia. Definitive diagnosis of this condition can be made by hemoglobin electrophoresis which shows HbF in the range of 10-50%, High HbA2 >4%. Criteria for diagnosing beta thalassemia intermedia includes: Clinical: Late presentation 2-5years, with relatively high hemoglobin 8 -10 g/dl and moderate bone changes and hepatosplenomegaly. Serum electrophoresis showing HbF in the range of 10-50%, High HbA2 >4% Genetics: One or both parents can be a silent carrier, absence of heterozygosity for beta thalassemia or presence of high HbF beta thalassemia. Molecular: Mild beta thalassemia mutation, Co inheritance of alpha thalassemia, co inheritance of high fetal hemoglobin. Ref: Harrison's Internal Medicine, 18th Edition, Page 859 ; Kochars Clinical Medicine for Students By Dario.M.Torre, Page 582
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