中国南方地区地中海贫血研究进展

Research Progress on Thalassemia in Southern China——Review

地中海贫血是一种由于珠蛋白基因突变或者缺失而导致珠蛋白生成障碍的典型的单基因遗传病,主要类型为α-地中海贫血和β-地中海贫血。地中海贫血高发于热带、亚热带地区,主要见于东南亚,中东,非洲和地中海人群。在我国南方地区包括广东省、广西省、贵州省和云南省等,地中海贫血是影响最大、发病率最高的遗传病之一,其基因突变类型具有明显的种族特征和地域差异。对南方地区不同民族、不同地域的人群进行地中海贫血基因突变类型的分析将有利于制定南方地区地中海贫血的防控措施。现就地中海贫血的分子机制、流行病学及我国南方地区地中海贫血基因突变类型予以综述。

Thalassemia is a single-gene disorder resulting from globin chain synthesis impairment because of the mutation or deletion of globin gene, such as α- and β-thalassemia. Thalassemia occurs with high frequencies in tropical and subtropical regions, primarily in Southeast Asian, Middle Eastern, African and Mediterranean populations. It has been reported that thalassemia is prevalent and variable in southern China, including Guangdong, Guangxi, Gulzhou, Yunnan and so on. The spectra of globin gene mutations are diverse and characterized by ethnicity and region in southern China. Analysis of the thalassemia gene mutation types is beneficial to develop the measures to prevention and control the thalassemia. The molecular mechemisms and epidemiology of thalassemia as well as spectra of thalassemia gene mutations in southern China are reviewed.