A Compound Heterozygous of Hb E and Beta Thalassemia Independent of Transfusion: A Rare Case Report

Anju; Mrinalini  Kotru; Pooja  Dewan

doi:10.18502/ijpho.v14i4.16605

Anju Departments of Pathology, University College of Medical Sciences & GTB hospital, Delhi
Mrinalini Kotru Departments of Pathology, University College of Medical Sciences & GTB hospital, Delhi
Pooja Dewan Departments of Pediatrics, University College of Medical Sciences & GTB hospital, Delhi

DOI: https://doi.org/10.18502/ijpho.v14i4.16605

Keywords: β thalassemia, Compound, Hemoglobin E, Heterozygous, Transfusion

Abstract

Hemoglobinopathy is now a worldwide problem. Mainly described in Southeast Asian countries. A compound heterozygous form of hemoglobin (Hb) E & b thalassemia was reported to be 50% of all severe forms of thalassemia. Clinical presentation of HbE/ b thalassemia is reported to be moderate to severe anemia. The children usually present at the age range of 7 months to 6.9 years. The clinical severity is affected by genetic factors, including mutation in a chain (b thalassemia), alpha-chain (a thalassemia), amount of adult Hb, and co-inheritance of another hemoglobinopathy. Here, we present a rare case of compound heterozygous of HbE/ b thalassemia), who survived without transfusion and complication until eight years of age. Peripheral blood smears and complete blood count showed microcytic hypochromic anemia. High-performance chromatography showed a compound heterozygous of HbE/ b thalassemia.