地中海贫血的分子诊断技术进展

Development of laboratory detection methods of thalassemia

地中海贫血是常见的人类遗传性血液病之一,其表型严重程度与地中海贫血基因突变型密切相关。及时准确地对地中海贫血进行基因诊断及产前基因诊断,可为患者的治疗以及产前优生遗传咨询提供依据。笔者将常见的地中海贫血分子诊断技术进行综述。

Thalassemia is one of the most common genetic hematologic disorders around the world,and the seriousness of its phenotype is greatly related to the gene type of thalassemia. Thus,the accurate genetic diagnosis of thalassemia and prenatal gene diagnosis will provide a basis for effective therapy and prenatal prepotency consultation. This article aims to summarize the common molecular diagnostic techniques in thalassemia.