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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。
AIM: Alpha globin - (THAI) deletion is a rare form of alpha thalassemia (thalassemia). This article reports the prenatal diagnosis of ~ (THAI) related Hb Bart’s hydropic fetal. Methods The screening and molecular diagnosis of α-thalassemia were carried out on both pregnant couples and the prenatal diagnosis was performed on high-risk H-Bartb’s hydrops fetus. Results A total of 385 pregnant women with Hb Bart’s hydrops fetalis were screened for high risk pregnancies, including 7 thalassemia patients with THAI and 7 patients with ~A (SEA) type alpha thalassemia. After prenatal diagnosis, 66 cases of Hb Bart’s hydrops were terminated, and 2 of them were - THAI complex - SEA. Conclusion Prenatal screening and prenatal diagnosis prevent the birth of THAI-associated Hb Bart’s hydropic fetal.