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目的探讨地中海贫血在产前检查中的发病率,并指导优生优育。方法应用法国Sebia公司HYDRASYS全自动电泳分析系统及自动扫描系统检测地中海贫血。结果 2000例标本筛查出α和β地贫表型阳性122例,其它血红蛋白病2例。α地贫表型阳性76例,阳性率3.8%;β地贫表型阳性46例,阳性率2.3%。结论地中海贫血的发病率高,在产前检查中进行地中海贫血的筛查,为进一步进行基因诊断和遗传咨询提供基础,以防止重度新生儿地贫的出生,对优生优育和提高人口素质具有重要意义。
Objective To investigate the incidence of thalassemia in prenatal care and to guide prenatal and postnatal care. Methods Thalassamia was detected by the HYDRASYS automated electrophoresis system and automated scanning system from Sebia, France. Results A total of 122 cases of alpha and beta thalassemia phenotype were screened in 2000 cases and 2 cases of other hemoglobinopathies. α thalassemia phenotype positive 76 cases, the positive rate of 3.8%; β-thalassemia phenotype in 46 cases, the positive rate of 2.3%. Conclusion The prevalence of thalassemia is high. Screening of thalassemia in prenatal examination provides the basis for further gene diagnosis and genetic counseling to prevent the birth of thalassemia major, and is important for prenatal and postnatal care and for improving the quality of the population significance.