| Literature DB >> 26554862 |
Divya Jayasree1, Ramachandran V Shaji1, Biju George1, Vikram Mathews1, Alok Srivastava1, Eunice S Edison1.
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.Entities:
Keywords: BCL11A gene; India; heterogeneity; homozygous Hb E
Mesh：
Substances：
Year: 2015 PMID： 26554862 DOI： 10.3109/03630269.2015.1086880
Source DB: PubMed Journal: Hemoglobin ISSN： 0363-0269 Impact factor: 0.849