Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population

Abstract

Homozygous Hb E [β26(B8)Glu→Lys; HBB: c.79G > A] is a clinically mild disease with no significant symptoms. Very few studies are available on clinical variability in Hb E disorders. We report the profile of a series of homozygous Hb E patients in the Indian population. We analyzed various genetic factors that contribute to the heterogeneity in the phenotype of homozygous Hb E patients. Analysis of these parameters further enhances our understanding of the Hb E syndrome.

• BCL11A gene
• heterogeneity
• homozygous Hb E
• India

Declaration of interest

This study was supported by grant BT/01/COE/08/03 from the Department of Biotechnology, Ministry of Science and Technology, Government of India. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.