【摘要】 目的:通过对胎血行血红蛋白(Hb)电泳检查,建立快速、简便、准确的α-地贫产前诊断方法。方法:对夫妇双方均为α-地贫携带者的高危妊娠于妊娠中期抽取脐带血行Hb电泳分析。结果:110例夫妇双方均为α-地贫的产前诊断病例中,检出Bart’s水肿胎62例,占56.36%;HbH病3例,占2.73%;α-轻型(静止型和标准型)地贫26例,占23.64%;正常18例,占16.36%。其中16例进行α-地贫基因复查,结果相符。2例夫妇双方为β-地贫,Hb电泳结果为Bart’s水肿胎,提示夫妇双方同时复合α-地贫。结论:Hb电泳产前诊断α-地贫具有简便、快速且经济、准确的优点,可作为孕中、晚期α-地贫产前诊断的常规方法。更多还原

【Abstract】 Objective:To establish a rapid, simple and accurate method for prenatal diagnosis of α-thalassemia.Methods:Cordocentesis was performed for pregnancies at risk for α-thalassemia at second or third trimester of gestation. Fetal blood was tested by hemoglobin electrophoresis.Results:In 110 pregnancies at risk for α-thalassemia, 62 (56.4%)fetuses were found to be affected with Bart’s hydrous, 3 (2.7%) fetuses found to be affected with hemoglobin H disease, 26(23.6%) fetuses found to be carriers and 18 (16.4%) fetuses found to be normal.Out of 110 fetuses, the diagnoses of 16 fetuses were confirmed by molecular analysis. Two prenatal diagnoses were performed for β-thalassemia, but fetal hemoglobin electrophoresis revealed the fetuses were affected with Bart’s hydrous, suggesting both parents were β-thalassemia carriers compounded with α-thalassemia.Conclusion:Fetal hemoglobin electrophoresis was a useful prenatal diagnosis method for α-thalassemia, and can be used when the at-risk mother was presented late in her gestation.更多还原