49例同型地中海贫血携带者产前基因诊断分析

发布时间：2018-04-11 01:27

  本文选题：地中海贫血 + 基因诊断　； 参考：《重庆医学》2017年10期

【摘要】：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随访。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%)、-α~(3.7)/αα(36.5%)、-α~(4.2)/αα(11.5%),β-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。
[Abstract]:Objective to explore the effective means and significance of preventing the birth of children with severe thalassemia (thalassemia).Methods from January 2013 to December 2015, pregnant women and their spouses were screened for thalassemia and diagnosed by gene diagnosis. 49 couples of the same type of thalassemia carriers were diagnosed by prenatal diagnosis of thalassemia before and after prenatal diagnosis.Results in 49 couples with thalassemia carriers of the same type, the main mutation types of 伪 -thalassemia were detected by genetic diagnosis as SEAA / 伪 伪 50.0A = 3.7N / 伪 伪 36.5N = 4.2N / 伪 伪 = 11.50.The main mutation type of 尾 -thalassemia was CD17 / N2.042.0CD41-42N / 260IVS- 鈪，

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