The Prevention of Thalassemia
The Prevention of Thalassemia
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DOI：
10.1101/cshperspect.a011775
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发表时间：
2013-02-01
影响因子：
5.4
通讯作者：
Kan, Yuet Wai
中科院分区：
文献类型：
--
作者：
Cao, Antonio;Kan, Yuet Wai
地中海贫血是世界范围内最常见的遗传性疾病之一，影响来自地中海地区，中东，外高加索，中亚，印度次大陆和东南亚的个体。由于疾病需要长期护理，纯合子状态的预防构成了管理的主要武器。本文讨论了欧洲、亚洲和澳大利亚许多国家建立的主要预防方案，这些方案往往借鉴了撒丁岛的经验。这些综合性项目包括携带者检测、分子诊断、遗传咨询和产前诊断。临床严重程度的变异性可归因于与α地中海贫血的相互作用和增加胎儿产量的突变。目前比较昂贵且不广泛应用的特殊方法是胚胎植入前和受孕前诊断。最近成功的研究胎儿DNA在母体血浆中可能允许未来的产前诊断，是非侵入性的胎儿。
The thalassemias are among the most common inherited diseases worldwide, affecting individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia. As the diseases require long-term care, prevention of the homozygous state constitutes a major armament in the management. This article discusses the major prevention programs that are set up in many countries in Europe, Asia, and Australia, often drawing from the experience in Sardinia. These comprehensive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Variability of clinical severity can be attributable to interactions with alpha-thalassemia and mutations that increase fetal productions. Special methods taht are currently quite expensive and not widely applicable are preimplantation and preconception diagnosis. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal diagnosis that is noninvasive for the fetus.