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β-地中海贫血是世界上最常见和发病率最高的一种单基因遗传性溶血性疾病,迄今已发现100多种突变类型,因而β-地中海贫血病的研究一直受到国内外的广泛关注和重视。据世界卫生组织报告,约有一亿以上的人口携带该病的突变基因[1]。其分子病理有极大的异质性,基因类型及频率分布
β-thalassemia is the most common and the highest incidence of a single gene hereditary hemolytic disease in the world. So far, more than 100 types of mutations have been discovered. Therefore, the study of β-thalassemia has been paid much attention both at home and abroad . According to the World Health Organization, about 100 million people carry the mutant gene of the disease [1]. Its molecular pathology has great heterogeneity, genotype and frequency distribution