Lemmens-Zygulska M, Eigel A, Helbig B, Sanguansermsri T, Horst J, Flatz G
Institut für Humangenetik der Westfälischen Wilhelms-Universität Münster, Germany.
Hum Genet. 1996 Sep;98(3):345-7. doi: 10.1007/s004390050220.
The population of northern Thailand has one of the highest frequencies of alpha-thalassemia in the world. However, the available distributional data are controversial. In addition to deletional types of alpha-thalassemia Hb, type Constant Spring should also be taken into consideration in alpha-thalassemia population studies, because it causes clinical alpha-thalassemia in the homozygous state or when present with both alpha-globin genes deleted in trans. We have examined a sample of 215 healthy subjects from four rural districts of Chiang Mai province. Out of these, 77 exhibited anomalies of the alpha-globin genes (alpha alpha/-alpha 3.7 in 36; -alpha 3.7/-alpha 3.7 in 3; -SEA in 30; alpha alpha/alpha CS alpha in 5; alpha alpha alpha anti 3.7 in 3). Therefore, no fewer than 2% of the children in northern Thailand are expected to be born with HbH disease or thalassemic hydrops fetalis. The considerable public health problem of hemoglobinopaties and the increasing acceptance of family planning necessitates facilities for the pre- and postnatal diagnosis of these disorders at the DNA level.
泰国北部人群是世界上α地中海贫血基因频率最高的群体之一。然而,现有的分布数据存在争议。除了缺失型α地中海贫血血红蛋白外,在α地中海贫血人群研究中还应考虑Constant Spring型,因为它在纯合状态下或与反式缺失的两个α珠蛋白基因同时存在时会导致临床α地中海贫血。我们检测了来自清迈省四个农村地区的215名健康受试者样本。其中,77人表现出α珠蛋白基因异常(36人为αα/-α3.7;3人为-α3.7/-α3.7;30人为-SEA;5人为αα/αCSα;3人为αααanti 3.7)。因此,预计泰国北部至少2%的儿童会出生患有血红蛋白H病或重型地中海贫血胎儿水肿综合征。血红蛋白病相当严重的公共卫生问题以及计划生育越来越被接受,这就需要具备在DNA水平对这些疾病进行产前和产后诊断的设施。