胎血血红蛋白电泳在α-地中海贫血产前诊断中的应用

Prenatal Diagnosis of α-thalassemia by Fetal Hemoglobin Electrophoresis

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。

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 beth 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.