COMPOUND HETEROZYGOSITY FOR HEMOGLOBIN E & Β THALASSEMIA: A FAMILY STUDY FROM KERALA.

Abstract

Hemoglobinopathies are the most commonly seen monogenic disorders of blood creating a major genetic and public health problem worldwide. Hemoglobin E is a variant with a mutation in beta-globin chain of hemoglobin molecule. At least one million people around the world is having Hb E which can have either symptomatic or asymptomatic clinical presentation. The common abnormal hemoglobin variants prevalent in India are Hb S, Hb D, and Hb E. Hb S and Hb E are the prevalent in tribals of India1 In Kerala HbS is the most prevalent abnormal hemoglobin which is most common among the tribals of Wayanad & Attapadi. HbE is very rare in Kerala while gene for beta thalassemia has been infrequently reported.2,3 Early detection of haemoglobin E/β-thalassemia is important, because this compound heterozygous state is characterized clinically by thalassemia major in which affected individual may be symptomatic and transfusion dependent at an early age. This study focuses on 4 members of a family with compound heterozygosity for Hemoglobin E & beta thalassemia from Kerala.
Keywords: Hemoglobin E, Beta thalassemia, compound heterozygous, HPLC