The hemoglobin E thalassemias.
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.
Thalassemia Research Centre, Institute of Science and Technology for Research and Development, Mahidol University, Bangkok, Thailand. grsfc@mahidol.ac.th
Suthat
S
Fucharoen
David J
DJ
Weatherall
D015720:5'-Nucleotidase / Q000172:deficiency; D000222:Adaptation, Physiological / Q000502:physiology; D017398:Alternative Splicing / Q000502:physiology; D055106:Genome-Wide Association Study; D005838:Genotype; D006446:Hemoglobin E / Q000235:genetics / Q000502:physiology*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012333:RNA, Messenger / Q000378:metabolism; D017085:alpha-Thalassemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D017086:beta-Thalassemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics
D012333:RNA, Messenger; D006446:Hemoglobin E; D015720:5'-Nucleotidase