佛山市9236例孕产妇301型地中海贫血基因检测结果分析

Analysis of gene detection results of type 301 thalassemia in 9236 pregnant women in Foshan

目的了解佛山市南海区孕产妇地中海贫血基因类型及其分布特征,探讨301型地中海贫血基因检测在产前筛查中的临床意义。方法对2017年6月至2019年3月在佛山市南海区妇幼保健院就诊的孕产妇进行301型地贫基因检测,缺失型α地贫基因突变采用gap-PCR方法,非缺失型α地贫基因突变和β地贫基因突变采用NGS测序的方法。结果在9 236例样本中,共1 736例(18.80%)检测出地贫基因突变,其中α地贫基因突变1 256例(13.60%),β地贫基因突变426例(4.61%),α合并β地贫基因突变54例(0.58%),异常血红蛋白86例(0.93%)。除了常见的23型α和β地贫基因突变外,发现了27例罕见地贫基因突变、18类共40例新发现目前尚未清楚是否致病的突变和19类共86例异常血红蛋白基因。结论佛山市南海区妇幼保健院孕产妇的地中海贫血基因类型较多,存大较多的罕见地贫基因突变及新发现目前尚未清楚是否致病的突变,301型地中海分血基因检测的产前筛查中具有重要意义。

Objective To identify genotypes of Maternal thalassemia and mutation spectrum in the Nanhai district of Foshan city,thereby to further explore the clinical significance of gene detection of type 301 thalassemia in prenatal screening. Methods The pregnant women in the obstetric clinic of Nanhai Maternity &Child Healthcare Hospital of Foshan during the period from Jun.,2017 to Mar.,2019 were screened by gene detection of type 301 thalassemia. Theα-thalassemia deletion defects were screen by gap-PCR,non-deletion alpha-thalassemia gene mutation and beta-thalassemia gene mutation were sequenced by next-generation sequencing technology(NGS). Results In the 9236 cases,a total of 1736 cases(18.80%)was detected thalassemia gene mutations,including 1256 cases(13.60%)of alpha thalassemia gene mutations,426 cases(4.61%)of beta thalassemia gene mutations,54 cases(0.58%)of alpha combined with beta thalassemia gene mutations,and 86 cases(0.93%)of abnormal hemoglobin. In addition to the common mutations of type 23 alpha and beta thalassemia genes,27 rare mutations of thalassemia gene,18 new types of thalassemia gene and19 types of abnormal hemoglobin genes were identified.Conclusion There are many genotypes of thalassemia among pregnant women in Nanhai Maternal and Child Health Hospital of Foshan City,and there are rarer thalassaemia gene mutations and new discoveries. It is not clear whether it is a disease-causing mutation. The301 type Mediterranean blood separation genetic test is of great significance in prenatal screening.