Fucharoen S, Winichagoon P
Department of Medicine, Faculty of Medicine Siriraj Hospital, Bangkok, Thailand.
Southeast Asian J Trop Med Public Health. 1992 Dec;23(4):647-55.
In Southeast Asia alpha-thalassemia, beta-thalassemia, hemoglobin (Hb) E and Hb Constant Spring are prevalent. The gene frequencies of alpha-thalassemia reach 30-40% in Northern Thailand and Laos. beta-Thalassemia gene frequencies vary between 1 and 9%. Hb E is the hallmark of Southeast Asia attaining a frequency of 50-60% at the junction of Thailand, Laos, and Cambodia. Hb Constant Spring gene frequencies vary between 1 and 8%. These abnormal genes in different combinations lead to over 60 different thalassemia syndromes. The four major thalassemic diseases are Hb Bart's hydrops fetalis (homozygous alpha-thalassemia 1), homozygous beta-thalassemia, beta-thalassemia/Hb E and Hb H diseases. The molecular basis of most of these abnormal genes have been recently described. Therefore, it is possible to set a strategy for prevention and control of thalassemia which includes population screening for heterozygotes, genetic counseling and fetal diagnosis with selective abortion of affected pregnancies.
在东南亚,α地中海贫血、β地中海贫血、血红蛋白E(Hb E)和血红蛋白恒河猴(Hb Constant Spring)较为常见。α地中海贫血的基因频率在泰国北部和老挝达到30%-40%。β地中海贫血的基因频率在1%至9%之间变化。Hb E是东南亚的标志性病症,在泰国、老挝和柬埔寨交界处的频率达到50%-60%。Hb Constant Spring的基因频率在1%至8%之间变化。这些异常基因以不同组合导致60多种不同的地中海贫血综合征。四种主要的地中海贫血疾病是巴氏水肿胎儿血红蛋白(纯合子α地中海贫血1)、纯合子β地中海贫血、β地中海贫血/Hb E和Hb H病。最近已经描述了大多数这些异常基因的分子基础。因此,有可能制定一项地中海贫血的预防和控制策略,其中包括对杂合子进行人群筛查、遗传咨询以及对受影响的妊娠进行选择性流产的胎儿诊断。