Chen Tyen-Po, Liu Ta-Chih, Chang Chao-Sung, Chang Jang-Gowth, Tsai Hui-Jen, Lin Sheng-Fung
Department of Internal Medicine, Kaohsiung Medical University Hospital, Taiwan.
Int J Hematol. 2002 Apr;75(3):277-80. doi: 10.1007/BF02982041.
The Southeast Asia type deletion of alpha-thalassemia-1 (--SEA) is the most common type of alpha-thalassemia-1 in Taiwan. There are 2 less common types, Filipino type (--FIL) and Thai type (--THAI). In the current study, we screened 754 cases of alpha-thalassemia-1 in Southern Taiwan using a polymerase chain reaction (PCR)-based method. Our results show that the prevalence of the (--SEA) type is 90.6%, followed by the (--FIL) type (8.6%), the (--THAI) type (0.5%), and the (-alpha(3.7/-alpha(3.7)) type (0.3%). We also analyzed the genotypes of 96 patients with hemoglobin (Hb) H disease and 48 cases of hydrops fetalis with Hb Bart's. The frequencies of the genotypes of the alpha-thalassemia-1 allele in Hb H disease are in accordance with the results of analyses of alpha-thalassemia-1 cases. The alpha-thalassemia-2 allele includes alpha(4.2), alpha(G), alpha(CS), and alpha(QS)alpha. Forty-one cases, 6 cases, and 1 case of hydrops fetalis with Hb Bart's were caused by --SEA/--SEA, --SEA/--FIL and --SEA/--THAI respectively. The genotypes and frequencies of alpha-thalassemia in this study are different from those in previous studies in Taiwan and Hong Kong. These differences may be attributed to the diverse genetic origin among different ethnic groups and the extensive inclusion of the (--FIL) and (--THAI) alpha-thalassemia-1 types.
东南亚型α地中海贫血-1（--SEA）缺失是台湾最常见的α地中海贫血-1类型。还有两种较不常见的类型，菲律宾型（--FIL）和泰国型（--THAI）。在本研究中，我们使用基于聚合酶链反应（PCR）的方法对台湾南部754例α地中海贫血-1患者进行了筛查。结果显示，（--SEA）型的患病率为90.6%，其次是（--FIL）型（8.6%）、（--THAI）型（0.5%）和（-α(3.7)/-α(3.7)）型（0.3%）。我们还分析了96例血红蛋白（Hb）H病患者和48例Hb Bart's胎儿水肿病例的基因型。Hb H病中α地中海贫血-1等位基因的基因型频率与α地中海贫血-1病例的分析结果一致。α地中海贫血-2等位基因包括α(4.2)、α(G)、α(CS)和α(QS)α。分别有41例、6例和1例Hb Bart's胎儿水肿是由--SEA/--SEA、--SEA/--FIL和--SEA/--THAI引起的。本研究中α地中海贫血的基因型和频率与台湾和香港以往的研究不同。这些差异可能归因于不同种族群体之间的遗传起源不同，以及（--FIL）和（--THAI）α地中海贫血-1类型的广泛纳入。
