Article
Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population.
Hemoglobin - 1 Jan 2016
Jayasree Divya, Shaji Ramachandran V, George Biju, Mathews Vikram, Srivastava Alok, Edison Eunice S
Abstract excerpt
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...
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