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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 prenatal diagnosis method of α-thalassemia by means of hemoglobin (Hb) electrophoresis on fetal blood. Methods: Hb electrophoresis analysis of umbilical cord blood taken from the second trimester of pregnancy for high-risk pregnancies in which both couples were a-thalassemia carriers. Results: Of the 110 prenatal diagnoses of a-thalassemia couples, 62 cases of Bart’s hydrops were detected (56.36%), 3 cases of HbH disease (2.73%), a-light (stationary and standard) 26 cases of thalamia, accounting for 23.64%; normal 18 cases, accounting for 16.36%. Among them, 16 cases of a-thalassemia gene review, the results are consistent. Two cases of both husband and wife were β-thalassemia, Hb electrophoresis results Bart’s edema fetal, suggesting that both sides of the couple compound α-thalassemia. Conclusion: The prenatal diagnosis of a-thalassemia by Hb electrophoresis is simple, rapid, economical and accurate. It can be used as a routine method for prenatal diagnosis of α-thalassemia in middle and late pregnancy.