Baysal E
Dubai Thalassemia and Genetic Center, United Arab Emirates.
Hemoglobin. 2001 May;25(2):247-53. doi: 10.1081/hem-100104033.
The use of modern DNA techniques enabled us to characterize and identify 44 distinct beta-thal mutations and nine alpha-thal genotypes in the UAE population. All of the beta-thal mutations were severe beta+ or beta0 types resulting in transfusion-dependent phenotypes. Furthermore, a large number of alphaT alleles in the alpha-thal carriers and in patients with Hb H disease, accentuate the importance of Hb H disease as a public health problem. The overall data presented here will be useful for genetic counseling, pre-marital carrier screening and the establishment of a comprehensive prenatal diagnosis program.
现代DNA技术的应用使我们能够对阿联酋人群中的44种不同的β地中海贫血突变和9种α地中海贫血基因型进行特征描述和鉴定。所有的β地中海贫血突变均为严重的β+或β0型,导致依赖输血的表型。此外,α地中海贫血携带者和Hb H病患者中大量的αT等位基因,凸显了Hb H病作为一个公共卫生问题的重要性。本文所呈现的总体数据将有助于遗传咨询、婚前携带者筛查以及建立全面的产前诊断项目。