Hemoglobin E-thalassaemia in a Sikh child: a case report.

ABSTRACT

Hemoglobin E is a beta chain variant that has its most clinically significant interaction with thalassaemia. The compound heterozygous state, thus produced, can result in a thalassaemia intermedia/major phenotype with affected individuals being transfusion dependent. Hemoglobin E is very common in north-east India with relatively fewer reportsfrom rest of the country. Reports of hemoglobin E in the Punjabi population are even rarer. A case of hemoglobin E-thalassaemia in a Sikh child is being presented because of its highly uncommon occurrence in natives of Punjab.