地中海贫血分子诊断技术进展

Advances in molecular diagnostic techniques for thalassemia

地中海贫血(简称地贫)是一种最常见的常染色体隐性遗传性血液病。其致病机制为珠蛋白基因发生缺陷引起珠蛋白链合成减少或缺如,使血红蛋白的α-链/非α-链比例失衡,从而导致的一组溶血性疾病。该病目前尚无经济有效的根治方法,通过人群分子筛查和基因诊断,对高风险夫妇孕期胎儿进行产前诊断而避免重型地贫患儿的出生,是国内外公认的首选预防措施。因此,准确实用的分子诊断方法,是实现大规模人群分子筛查、常规基因诊断和产前诊断的前提。该文就当前地贫分子诊断技术进展进行综述,以供参考。

Thalassemia is one of the most common autosomal recessive inherited blood diseases.The pathogenic mechanism is that gene defects in globin gene lead to reduced or absent production of one of the globin chains with relative excess of the others,causing an imbalance ofα-chain/non-α-chain ratio and resulting in a group of hemolytic diseases.Up to now,there is no economic and effective cure for the disease.Through population molecular screening and genetic diagnosis,prenatal diagnosis for the fetuses of high-risk couples during pregnancy to avoid the birth of children with severe thalassemia is recognized as the first choice of preventive measures at home and abroad.Therefore,accurate and practical molecular diagnosis methods are the premise to realize the molecular screening,routine gene diagnosis and prenatal diagnosis in large population.In this paper,the recent advances in molecular diagnostic techniques of thalassemia are reviewed for reference.