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目的了解湘潭地区孕妇地中海贫血(简称地贫)基因携带率和基因类型,评估产前筛查地贫干预模式的价值。方法采用血液学检查和血红蛋白电泳对产前检查的孕妇进行实验室检查,筛查阳性者进一步进行基因分析诊断。结果8986例孕妇中筛查表型阳性2038例,经基因分析,诊断地贫602例,包括α-地中海贫血268例,β-地中海贫血320例,同时检出α复合β-地中海贫血14例。结论湘潭地区地中海贫血具有一定的人群携带率,在孕妇中联合应用血液学筛查与血红蛋白电泳筛查及产前诊断,是预防重型地贫儿出生的有效措施,建立婚前、产前联合筛查的地贫干预模式,对指导优生优育更具有意义。
Objective To understand the prevalence and genotypes of thalassemia (TP) in pregnant women in Xiangtan area and to evaluate the value of prenatal screening thalassemia intervention model. Methods Hematology and hemoglobin electrophoresis were used to carry out laboratory tests on prenatal pregnant women. Screening positive patients were further analyzed by genetic analysis. Results A total of 2038 cases of 8986 pregnant women were screened for phenotype. There were 602 cases of thalassemia diagnosed by genetic analysis, including 268 cases of α-thalassemia and 320 cases of β-thalassemia, and 14 cases of α-thalassemia were detected at the same time. Conclusion Thalassemia in Xiangtan has a certain population carrying rate. Hematology screening, hemoglobin electrophoresis screening and prenatal diagnosis in pregnant women are effective measures to prevent the birth of children with severe thalassemia. Prenatal and prenatal joint screening Of thalassemia intervention model, to guide eugenics more meaningful.