地中海贫血筛查及基因检测结果分析

目的了解妊娠妇女人群地中海贫血（简称地贫）基因携带率，探讨预防和控制重症地贫儿出生的措施。方法对1132名孕妇进行地贫筛查，筛查表型阳性者进一步行基因检测，夫妇同型者再做胎儿的产前诊断。结果1132名受检者中筛查出表型阳性232例，阳性检出率为20．49％，表型阳性者进一步行基因检测，检出旺地贫82例，检出率为7．24％；B地贫65例，检出率为5．74％。结论妊娠妇女人群中存在较高的地贫基因携带率，选择合适的检测方法，对携带者进行出生干预，是减少出生缺陷的有效措施。

Analysis on screening and genetic testing of thalassemia

Objective To understand the thalassemia＇ s gene carrier rate of pregnant women and explore the method of preventing and controlling the birth of severe thalassemia infant. Methods The screening of thalassemia was performed in 1 132 pregnant women, some of women whose samples showed positive will have luther testing. If the couple had same type, they must do prenatal diagnosis. Results Among 1 132 women, 232 women showed phe- notypic positive, accounting for 20. 49%. Of these women showed phenotypic positive, c~- thalassemia was found in 82 women, accounting for 7.24% ; β-thalassemia in 65 women, accounting for 5.74%. Conclusion For the crowd with a higher thalassemia gene carners rate, appropriate testing method should be chosen. For thalassemia gene carriers, the intervention should be taken, in order to effectively reduce the incidence rate of birth defects.