α-thalassemia in the United Arab Emirates
α-thalassemia in the United Arab Emirates
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DOI：
10.1159/000040863
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发表时间：
1998-01-01
影响因子：
2.4
通讯作者：
Baysal, E
中科院分区：
文献类型：
--
作者：
El-Kalla, S;Baysal, E
对418份连续脐带血样本进行了阿拉伯联合酋长国（UAE）国民α-地中海贫血（α-地中海贫血）的新生儿筛查调查。我们的研究结果表明，49%的病例被发现有α-珠蛋白基因缺陷。- α（3.7）的基因频率为0.2847，-α（4.2）的基因频率为0.0072。发现了4个非缺失型α-地中海突变：α（PA-1）、α（PA-2）、Hb CS和α（-5nt del），基因频率分别为0.0036、0.0012、0.0024和0.0072。我们还报告了22例Hb H病或Hb H样综合征患者的基因型-表型相关性。其中，6例为α（PA-1）突变纯合子，2例为Hb CS纯合子，14例为α（PA-1）、Hb CS、α（-5nt del）或-MED-I与-α（3.7）复合杂合子。这里报告的数据表明，在阿联酋发生的α-地中海突变的相当大的异质性和α-地中海在土著人口的发病率是世界上最高的之一。我们的临床数据表明，Hb H疾病在阿联酋，一般来说，轻度至中度的表型介绍。
A neonatal screening survey of alpha-thalassemia (alpha-thal) among the United Arab Emirates (UAE) nationals was conducted on 418 consecutive cord blood samples. Our findings demonstrate that 49% of the cases studied were found with an alpha-globin gene defect. The gene frequency of the -alpha(3.7) was 0.2847 and that of the -alpha(4.2) was 0.0072. Four nondeletional alpha-thal mutations were found; alpha(PA-1), alpha(PA-2), Hb CS and alpha(-5nt del) with gene frequencies of 0.0036, 0.0012, 0.0024, and 0.0072, respectively. We also report here the genotype-phenotype correlation in 22 patients with Hb H disease or Hb H-like syndrome. Of these, 6 were homozygous for the alpha(PA-1) mutation, 2 were homozygous for Hb CS, and 14 were compound heterozygous for either alpha(PA-1), Hb CS, alpha(-5nt del) or -MED-I, with the -alpha(3.7). The data reported here demonstrate that a considerable heterogeneity of alpha-thal mutations occurs in the UAE and that the incidence of alpha-thal in the indigenous population is one of the highest in the world. Our clinical data suggest that Hb H disease in the UAE has, in general, a mild to moderate phenotypic presentation.