β-地中海贫血(简写为β地贫)是一种严重影响人民健康和人口质量的遗传性疾病,在我国广大地域(特别在南方)具有较高的发病率。在β地贫中以重型患者后果最为严重,此类病例在此化学上表现为β珠蛋白链完全缺如(β~0纯合子)或极度减少(β~+纯合子,其β链仅相当于正常水平的5—30％);在临床上则表现为严重的或进行性贫血、肝脾肿大、骨骼改变及红细胞形态异常等一系列综合征。防治该病的根本措施是杜绝患儿出生,为此必须作好产前诊断。我们在了解中国人β类珠蛋白基因多态 β-thalassemia (abbreviated as β thalassemia) is a genetic disease that seriously affects people’s health and the quality of the population. It has a high morbidity in vast areas in our country (especially in the south). Severe cases of β-thalassemia in the most serious consequences, such cases in this chemical showed complete absence of β-globin chain (β 0 homozygotes) or extremely reduced (β ~ + homozygotes, the β chain only In the normal level of 5-30%); in clinical manifestations of severe or progressive anemia, hepatosplenomegaly, skeletal changes and abnormal morphology of red blood cells and a series of syndromes. The fundamental measure to prevent and treat the disease is to prevent the birth of a child, so we must make prenatal diagnosis. We are understanding Chinese β-globin gene polymorphism