Fucharoen S, Winichagoon P, Thonglairuam V
Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Hemoglobin. 1988;12(5-6):581-92. doi: 10.3109/03630268808991648.
In Thailand alpha-thalassemia (thal), beta-thal, hemoglobin (Hb) E and Hb Constant Spring (Hb CS) are prevalent. The incidences are 20-30% for alpha-thal (3.5% for alpha-thal-1 and 16% for alpha-thal-2), 3-9% for beta-thal, up to 54% for Hb E and nearly 8% for Hb CS. Different combinations of these genes result in a spectrum of thalassemia syndromes ranging in severity from asymptomatic to intrauterine death. From the known gene frequencies the numbers of thalassemic patients per generation (total population of 50 million) are as follows: Hb Bart's hydrops fetalis 20,000; homozygous beta-thal 31,250; beta-thal/Hb E disease 162,500; Hb H disease (two genotypes) 200,000, making a total of 413,750. In addition, individuals may carry more than two of the abnormal genes leading to complex thalassemia syndromes such as alpha beta-thal, AE-Bart's and EF-Bart's diseases.
在泰国，α地中海贫血（α-地贫）、β地中海贫血（β-地贫）、血红蛋白E（Hb E）和血红蛋白Constant Spring（Hb CS）较为常见。其发病率分别为：α-地贫20% - 30%（α-地贫1型为3.5%，α-地贫2型为16%），β-地贫3% - 9%，Hb E高达54%，Hb CS近8%。这些基因的不同组合会导致一系列地中海贫血综合征，严重程度从无症状到宫内死亡不等。根据已知的基因频率，每代地中海贫血患者数量（总人口5000万）如下：巴氏水肿胎儿型血红蛋白Bart's病20000例；纯合子β-地贫31250例；β-地贫/Hb E病162500例；血红蛋白H病（两种基因型）200000例，总计413750例。此外，个体可能携带两个以上异常基因，导致复杂的地中海贫血综合征，如αβ-地贫、AE - Bart's病和EF - Bart's病。
