49例同型地中海贫血携带者产前基因诊断分析

目的 探讨防止严重类型地中海贫血(简称地贫)患儿出生的有效手段和重要意义.方法 2013年1月至2015年12月于该院产前检查的孕妇及配偶通过地贫筛查和基因诊断,对确诊的49例同型地贫携带者夫妇进行羊水地贫产前基因诊断,并在产前诊断后进行髓访.结果 在49例同型地贫携带者夫妇中,基因诊断检测出α-地贫主要突变类型为--SEA/αα (50.0％)、-α3.7/αα (36.5％)、-α4.2/aa(11.5％),p地贫主要突变类型为CD17/N(42.0％)、CD41-42/N (26:0％)、IVS-Ⅱ-654/N(22.0％).产前诊断检测出HbH病4例,Bart's水肿胎儿2例,重型β-地贫10例,α-地贫携带者19例,β-地贫携带者10例,α-地贫合并β-地贫1例,健康胎儿3例.随访结果与产前诊断结果相符.结论 通过开展地贫产前筛查和产前诊断能有效地防止重症地贫患儿出生.

Analysis on prenatal gene diagnosis in 49 cases carrying same type thalassemia

Objective To explore the effective means and important significance for preventing the born of neonatal patients with severe thalassemia.Methods Among the pregnant women and spouses receiving prenatal examination in our hospital from January 2013 to December 2015 were performed the thalassemia screening and gene diagnosis,49 couples carrying the same type thalassemia were conducted the prenatal amniotic fluid thalassemia gene diagnosis and follow up after prenatal diagnosis.Results In 49 couples carrying the same type thalassemia,the main gene mutation types of α-thalassemia detected by the gene diagnosis were --SEA/aα(50.0％),-α3.7/αa (36.5％) and-α4.2/αa (11.5％),which of β-thalassemia were CD17/N(42.0％),CD41-42/N (26.0％) and IVS-Ⅱ-654/N(22.0％).The results of prenatal diagnosis showed that there were 4 cases of HbH disease,2 cases of Bart's hydrops fetus,10 cases of severe β-thalassemia,19 a-thalassemia carriers,10 β-thalassemia carriers,1 case of co-inheritance of a-and β-thalassemia,and 3 health fetuses.The follow up results were consistent with those of prenatal diagnosis.Conclusion Conducting prenatal screening and diagnosis of thalassemia in pregnant women can effectively prevent the birth of neonatal patients with severe thalassemia.