β-地中海贫血研究进展

The Development in the Study of β-thalassemia

β 地中海贫血(β thalassemia),简称β地贫,是由于血红蛋白的β珠蛋白基因突变导致β珠蛋白肽链缺如(β°)或合成不足(β+),从而引起的遗传性溶血性贫血病,在我国长江以南大部分省区均为高发区,广东、广西发病率尤高,且危害严重.此病有一定的发病基础、临床症状和频率分布,很多科学家在进行基因诊断及治疗的研究.当前,应加强教育和宣传,使人们充分了解此病的发病机理,认识到进行婚前检查、产前诊断的必要性,达到优生优育,减少患儿的出生,从而提高人口素质的目的.

βthalassemia is a congenital hemolytic anemia,resulting from the deletion ofβ globin peptide chain (such as β°) or from the deficiency of the synthesis of β globin peptide chain (such as β+),which is caused by gene mutation of β globin in hematoglobin. The disease has a high incidence in most provinces south of the Yangtze River,especially in Guangdong and Guangxi. This article reviews the mechanism,clinical symptom,frequency,gene diagnosis,and treatment of it,in order to arouse peoples awareness and help people learn more about it which will enable them to understand the importance of premarital checkups and antenatal examination,so as to achieve a sound child rearing and enhance the quality of the population.