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β-地中海贫血是由于β-珠蛋白链合成减少或缺失,导致α-和β-珠蛋白链比例不平衡的遗传病。重型患者出生后不久呈现进行性贫血,伴随黄疸、肝脾肿大、骨骼畸形、依赖性输血治疗,严重影响个体生命质量。广东省21个地级市的育龄人群β-地中海贫血携带率为3.9%〔1〕。本研究在一对地中海贫血筛查阳性的夫妇中,检出罕见型β-珠蛋白链c.+111A>G杂合突变(即beta nt 1585A>G),
β-thalassemia is a genetic disease that results in a decrease or loss of β-globin chain synthesis, resulting in an unbalanced ratio of α- and β-globin chains. Severe patients present with anemia after birth, with jaundice, hepatosplenomegaly, skeletal deformity, and dependent transfusion therapy, seriously affecting the quality of life of individuals. Among 21 prefecture-level cities in Guangdong Province, the population of β-thalassemia in childbearing age population is 3.9% (1). In this study, a rare heterozygous mutation of c. + 111A> G (ie, beta nt 1585A> G) in beta-globin chain was detected in a couple with positive thalassemia screening.