β-地中海贫血基因诊断及临床应用

摘要:β-地中海贫血是β-珠蛋白基因突变导致β-珠蛋白链合成减少或缺乏所引起的一种遗传性溶血性贫血，本病发病范围广，各地区有不同的发病率。β-珠蛋白基因最常见的突变类型是点突变，中国南方地区已发现β-地中海贫血基因突变有46种。随着分子生物学研究技术的不断发展，β-地中海贫血的基因诊断方法也不断改进和完善。本文从β-地中海贫血的基因诊断角度出发，对目前仍在使用及新近出现的β-地中海贫血点突变检测技术及其在临床上的应用进行综述。

Genetic diagnosis and clinical application of beta thalassemia

Abstract: Beta thalassemia is a genetic hemolytic anemia that beta globin chains synthesis is reduced or lacked by beta globin gene mutations. In China it is usually seen in the south with different incidence. 46 different mutations of beta thalassemia have been reported in the southern China. With the development of molecular biology technique, the method of gene diagnosis of thalassemia constantly improved and perfected. This review describes the latest technical development of molecular diagnosis of beta thalassemia from the perspective of clinical settings.