CAJ | 학술논문

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。
주단백생성장애성빈혈，즉지중해빈혈，시일조인류최상견적단기인유전병。거세계위생조직고계，전구범위내지소유7%적인구휴대해병치병기인，주요분포우비주、지중해、동남아등열대급아열대지구，기인발적용혈성빈혈엄중위해착인류건강。인차，진일보료해고발지구인군해병기인휴대솔、기인돌변보급분포특정，대우질병적예방、진단화치료유착중요의의。본문취국내외고발지구주단백생성장애성빈혈적분자류행병학상관연구진전진행종술。
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.