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应用限制性内切酶图谱技术对2例患有Hb H病的孕妇及其丈夫进行了α-珠蛋白基因组织分析,并对他们的胎儿进行了产前基因诊断。查明1例孕妇为左侧缺失型Hb H病患者基因型为-α/--),其丈夫为α-地中海贫血1(基因型为αα/--),其胎儿为Hb Bart’s水肿胎儿(基因型为--/--);另一例孕妇为右侧缺失型Hb H病患者(基因型为α-/--),其丈夫和胎儿均为α-地中海贫血1(基因型为αα/--)。引产或分娩后,取脐带血重复验证,证实产前诊断完全正确。
Two pregnant women and their husbands with Hb H disease were analyzed for alpha-globin genomic analysis using restriction endonuclease mapping and their prenatal genetic diagnosis was performed on their fetuses. A case of pregnant women with left-sided Hb H disease was genotyped as -α / -, her husband was α-thalassemia 1 (genotype αα / -) and her fetus was Hb Bart’s edema fetus Genotype was - / -). Another case of pregnant women was right-handed Hb H (genotype α - / -), both husband and fetus were α-thalassemia 1 (genotype αα / -). Induction of labor or childbirth, umbilical cord blood taken repeatedly verified that prenatal diagnosis is correct.