多地区珠蛋白生成障碍性贫血的分子流行病学研究进展

Molecular epidemiology of thalassemia in multiple geographic regions: a research progress

摘要:

珠蛋白生成障碍性贫血，即地中海贫血，是一组人类最常见的单基因遗传病。据世界卫生组织估计，全球范围内至少有7%的人口携带该病致病基因，主要分布于非洲、地中海、东南亚等热带及亚热带地区，其引发的溶血性贫血严重危害着人类健康。因此，进一步了解高发地区人群该病基因携带率、基因突变谱及分布特征，对于疾病的预防、诊断和治疗有着重要意义。本文就国内外高发地区珠蛋白生成障碍性贫血的分子流行病学相关研究进展进行综述。

Abstract:

Thalassemia is a group of the most common human monogenic disorders. According to the World Health Organization, at least 7% of the population worldwide carries thalassemia associated genes. This disease is mainly distributed in Africa, Mediterranean, Southeast Asia and other tropical and subtropical regions. Hemolytic anemia caused by thalassemia is really harmful to human health. So it is of great importance to investigate the gene prevalence and spectrum of thalassemia in several areas with high incidences all over the world for the disease prevention, diagnosis and treatment. In this paper, we reviewed the research progress in molecular epidemiological analysis of thalassemias in multiple regions.