Seema Goel , Seema Goel , Narendra Goel , R.K. Bhatnagar , Vidya Vishwanathan
A 11-year-old male was seen with complaints of general weakness and growth delay with no previous history of blood transfusion and jaundice. On examination the child was pale with thalassemic facies with mild liver and spleen enlargement. His blood picture shaved microcytic hypochromic anaemia.Hemoglobin electrophoresis showed no HbA, with raised HbE and HbF.HPLC showed rise in HbE more than HbF. All these findings were consistent with the diagnosis of HBE-â thalassemia.This case is reported here because of its late presentation and phenotypic diversity that poses a diagnostic and management dilemma.
Keywords: Thalassemia; Hemoglobin E; Phenotypic diversity.
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Saturday 19 April 2025, 05:20:55 (IST)
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