Thalassemia Research Centre, Institute of Science and Technology for Research and Development, Mahidol University, Bangkok, Thailand.
Cold Spring Harb Perspect Med. 2012 Aug 1;2(8):a011734. doi: 10.1101/cshperspect.a011734.
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.
血红蛋白 E(HbE)是一种极其常见的结构血红蛋白变异体,在许多亚洲国家的高频出现。它是一种β-血红蛋白变异体,产生速度略低,因此表现为β地中海贫血的轻度形式。它与不同形式的α地中海贫血相互作用,导致各种临床疾病,而与β地中海贫血的共遗传,即血红蛋白 E β地中海贫血,是迄今为止亚洲最常见的严重β地中海贫血形式,在全球范围内,约占临床严重β-地中海贫血疾病的 50%。