四川金堂地区4733例孕妇地中海贫血基因检测结果分析

Analysis of thalassemia gene in 4 733 pregnant women in Jintang County,Sichuan province

目的探讨四川金堂地区孕妇地中海贫血(以下简称“地贫”)基因携带类型及频率分布,为金堂地区地贫防控体系构建提供参考数据。方法对2018年4月至2023年6月首次来该院进行常规产检的4733例孕妇进行中国人常见的23型地贫基因检测,对疑似罕见型地贫标本送至广州凯普医药科技有限公司进行检测。结果确诊地贫基因携带者782例,金堂地区孕妇地贫总携带率为16.52%,其中检出α-地贫487例,占总携带数的62.21%,基因型以αα/-αSEA型、αα/-α^(3.7)型、αα/-α^(4.2)型、α^(CS)α型、α^(WS)α型为主;检出β-地贫278例,占总携带率的35.58%,基因型以CD17M/N、CD41-42M/N、IVS-Ⅱ-654M/N、CD71-72M/N、βEM/N为主,其中还包含的3例罕见型地贫;检出复合型地贫17例,占总携带数的2.21%。结论金堂地区孕妇地贫阳性率较高,类型复杂多样;α-地贫患者高于β-地贫患者,分布存在一定的地域特征,α-地贫多见于αα/-αSEA、αα/-α^(3.7)、αα/-α^(4.2);β-地贫多见于CD17M/N、CD41-42M/N、IVS-Ⅱ-654M/N。

Objective To explore the types and frequency of thalassemia gene in pregnant women in Jintang County and to provide reference data for the establishment of poverty prevention and control system.Methods A total of 4733 pregnant women who had their first routine 2023 examination in the hospital from April to June 2018 were thalassemia for the common Chinese genotype 23,samples of suspected rare thalassemia were sent to Guangzhou Cape Pharmaceutical Technology Co.,Ltd.for testing.Results There were 782 confirmed thalassemia carriers,and the total thalassemia rate was 16.52%in Jintang County.Among them,487 cases ofα-thalassemia were detected,accounting for 62.21%of the total carriers,the major genotypes wereαα/-αSEA,αα/-α^(3.7),αα/-α^(4.2),α^(CS)α,α^(WS)α,CD17M/N,CD41-42M/N,IVS-Ⅱ-654M/N,CD71-72M/N,βEM/N were the most common genotypes,including 3 rare cases of thalassemia,and 17 cases of complex thalassemia were detected,accounting for 2.21%of the total carriers.Conclusion The thalassemia rate ofα-thalassemia is higher than that ofβ-thalassemia,andα-thalassemia is more common inαα/-αSEA,αα/-α^(3.7),αα/-α^(4.2)β-thalassemia was mainly found in CD17M/N、CD41-42M/N and IVS-Ⅱ-654M/N.