产前诊断--^(THAI)型相关Hb Bart′s水肿胎的临床研究

Prenatal diagnosis of Hb Bart′s disease associated with α~0-thalassema Thai type deletion

目的α珠蛋白--^(THAI)型缺失是一种少见的α地中海贫血(地贫)。本文报道--^(THAI)型相关Hb Bart′s水肿胎的产前诊断经验。方法对怀孕夫妇双方进行α地贫筛查与分子诊断,对生育血红蛋白(Hb)Bart′s水肿胎高风险家庭进行产前诊断。结果共筛查出385例生育Hb Bart′s水肿胎高风险妊娠,包括7例为夫妇一方为--^(THAI)型α地贫、另一方为--^(SEA)型α地贫。经产前诊断,66例Hb Bart′s水肿胎被终止妊娠,其中2例为—^(THAI)复合--^(SEA)型的水肿胎。结论通过产前筛查与产前诊断,可以预防--^(THAI)型相关Hb Bart′s水肿胎的出生。

Objective： The Thai type deletion is a less common α-thalassemia. In this study, we report our experience in prevention of Hb Bart＇ s disease associated with α-thalassema Thai type deletion. Methods： All couples at their first obstetric visit were screened for thalassemia trait. When both partners of a couple carried a type of thalassemia causing Hb Bart＇ s disease risk in the progeny, prenatal diagnosis was offered. Results： Totally, 385 couples at risk for Hb Bart＇s disease, including 7 tested positive for SEA deletion in one partner and Thai deletion in the other, were found and different prenatal procedures were offered depending on the gestational age at presentation. Sixty-six affected fetuses were diagnosed prenatally： among these, 2 cases of Hb Bart＇ s disease were discordant for SEA and Thai deletions. Conclusion： With the strategy consisted of carder screening, prenatal diagnosis and termination of pregnancy, the births of Hb Bart＇ s disease infants can be prevented.