贵阳地区1143例孕妇地中海贫血筛查及基因检测结果分析

摘要

Objective To investigate the frequency of thalassemia in pregnant women in Guiyang region,and clinical application value of prenatal screening of thalassemia.Methods Thalassemia phenotypes of pregnant women were determined by erythrocyte parameters analysis and hemoglobin electrophoresis.Genetic testing was performed on positive cases to determin the genotype.The genotype distributions of thalassemia in pregnant women in Guiyang region were analyzed.Results Among the 1 143 pregnant women,68 (5.95 ％) were positive thalassemia phenotype,and 63 (5.51 ％) were final diagnosed as thalassemia by genetic testing,including 23 (2.01 ％) α-thalassemia cases and 40 (3.50 ％) β-thalassemia cases.Among the α-thalassemia genotype,--sEA/αα appeared the most common genotype,accounting for 60.9 ％.Among the β-thalassemia genotype,CD17/N appeared the most common genotype,accounting for 45.0％.Conclusion Thalassemia is quite common in Guiyang region.Prenatal screening is effective to avoid the birth of foetus with thalassemia major.%目的 了解贵阳地区孕妇人群的地中海贫血(简称地贫)发生情况,并探讨地贫产前筛查的临床意义.方法 采用红细胞指数分析和血红蛋白电泳对孕妇进行地贫表型分析,表型阳性者进一步做地贫基因诊断.分析贵阳地区孕妇人群地贫基因型的分布情况.结果 1143例孕妇筛查出地贫表型阳性68例(5.95％),基因诊断确诊为地贫63例(5.51％),其中α-地贫23例(2.01％),β-地贫40例(3.50％).α-地贫基因型以--SEA/αα最多,占60.9％；β-地贫基因型以CD17/N最多,占45.0％.结论 贵阳地区是地贫高发区；对孕妇开展产前筛查可有效防止重型地贫患儿的出生.