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Hemoglobin E (HbE) is an extremely common structural hemoglobin variant that occurs at high frequencies throughout many Asian countries. It is a β-hemoglobin variant, which is produced at a slightly reduced rate and hence has the phenotype of a mild form of β thalassemia. Its interactions with different forms of α thalassemia result in a wide variety of clinical disorders, whereas its coinheritance with β thalassemia, a condition called hemoglobin E β thalassemia, is by far the most common severe form of β thalassemia in Asia and, globally, comprises approximately 50% of the clinically severe β-thalassemia disorders.

Original publication

DOI

10.1101/cshperspect.a011734

Type

Journal article

Journal

Cold Spring Harb Perspect Med

Publication Date

01/08/2012

Volume

2

Keywords

5'-Nucleotidase, Adaptation, Physiological, Alternative Splicing, Genome-Wide Association Study, Genotype, Hemoglobin E, Heterozygote, Homozygote, Humans, Mutation, Phenotype, RNA, Messenger, alpha-Thalassemia, beta-Thalassemia