β-地中海贫血(简称β-地贫)是一组β-珠蛋白合成缺陷所致的有异质性的遗传病。近年来的研究揭示了导致β-地贫的三十多种不同的基因突变。这些突变涉及到基因表达过程的转录、RNA加工和mRNA翻译等步骤。本文就此方面的内容予以讨论,兼及结构基因突变所造成的β-地贫异常血红蛋白(thalasemia hemoglobinopathy)和国人β-地贫突变。 β-thalassemia (β-thalassemia) is a heterogeneous group of genetic diseases caused by defects in β-globin synthesis. Recent studies have revealed more than thirty different genetic mutations that cause beta-thalassemia. These mutations involve transcription, RNA processing, and mRNA translation of the gene expression process. This article discusses the contents of this aspect, as well as structural mutations caused by β-thalassemia hemoglobinopathy (thalvmia) and people β-thalassemia mutations.