四川地区人群地中海贫血的筛查及基因分析

Screening and Genetic Analysis of Thalassemia in Sichuan District

对四川地区人群进行了地中海贫血的筛查和基因型分析。在本院体检的人群中应用血红蛋白电泳进行广泛地地贫表型分析,并对地贫表型阳性的病例进行基因检测。结果在3 185例受检者筛查出α地贫表型阳性者69例,β地贫表型阳性者115例。确诊为地贫者157例,其中α地贫53例,β地贫102例,α复合β地贫2例,阳性率分别为1.66%、3.20%、0.06%。可见,四川是地中海贫血高发省份之一。血红蛋白电泳是地贫筛查的重要方法,应用GAP-PCR和PCR-RDB技术可进行地贫基因型分析,二者结合可实现广泛的地贫筛查和诊断。

This paper was aimed to screen and analyze the genotypes of thalassemia of the residences in Sichuan Province.The phenotypes of thalassemia was screened by hemoglobin electrophoresis,and the genotypes of the phenotype positive cases was analyzed.There were 69 α-thal and 115 β-thal phenotype positive cases in 3185 subjects.A total of 157 cases were diagnosed as thalassemia.These included 53 α-thal,102 β-thal and 2 α/β-thal cases.The positive rates were 1.66%,3.20%,0.06%,respectively.It can be seen that Sichuan is one of the provinces with a high incidence of thalassemia.Hemoglobin electrophoresis is an important method for thalassemia screening,and GAP-PCR and PCR-RDB technology for thalassemia genotype analysis.A combination of both enables a wide range of screening and diagnosis of thalassemia.