摘要
目的通过对本地区参加孕前优生检查的新婚夫妇进行红细胞参数、地中海贫血基因检测,提供有效的地贫防控方案,减少地贫儿出生。方法选取2017年1月至2019年6月本地进行孕前优生检查的夫妇,共收集新婚夫妇4620对,全自动血液分析仪检测新婚夫妇红细胞参数,对地贫表型阳性的血液标本进一步进行地贫基因诊断。采用跨越断裂点聚合酶链反应和DNA反向斑点杂交(RDB)技术检测我国常见的α-地贫和β-地贫基因突变或缺失。分析α-地贫和β-地贫基因类型突变类型和频率。结果本研究检测4620对新婚夫妇,有1746例为地贫初筛阳性,占18.90%(1746/9240)。有739例为地贫基因阳性,占8.00%(739/9240)。495例α-地贫基因携带者中--SEA/αα型所占比例最多。208例β-地贫基因携带者中CD41-42型所占比例最多。产前诊断结果发现,186例双方为同型基因高危地贫的夫妇,检查出正常胎儿54例,占29.03%(54/186),检出各类轻型α-地贫胎儿44例,占23.66%(44/186),静止型α-地贫胎儿10例,占5.38%(10/186),检出各类轻型β-地贫胎儿23例,占12.37%(23/186),检查出各类重型/中间型(α-地贫、β-地贫、αβ复合型)地贫胎儿58例,占31.18%(58/186)。58例高危地贫胎儿家庭中,有53例胎儿终止妊娠,5例胎儿继续妊娠。结论血常规红细胞参数联合地中海贫血基因检测对孕前优生具有指导作用,为开展优生优育和预防重型地贫儿出生工作提供参考。
Objective To conduct red blood cell parameters and thalassemia genetic testing for newlyweds in the region who participated in pre-pregnancy eugenics examinations, and to provide effective thalassaemia prevention and control programs to reduce the birth of thalassaemia children. Methods A total of 4620 newlyweds were collected from local couples who underwent pre-pregnancy eugenics examination from January 2017 to June 2019. The automatic blood analyzer was used to detect the red blood cell parameters of the newlyweds, and the blood samples with positive thalassaemia phenotype were further used for genetic diagnosis of thalassaemia. Cross-breakpoint polymerase chain reaction and DNA reverse dot hybridization(RDB) were used to detect mutations or deletions of α-and β-thalassaemia genes that were common in my country. The mutation type and frequency of α-and β-thalassaemia gene types were analyzed. Results In this study, 4620 newlyweds were tested, and 1746 were positive for thalassaemia, accounting for 18.90%(1746/9240). 739 cases were positive for the thalassaemia gene, accounting for 8.00%(739/9240). Among the 495 α-thalassaemia gene carriers,--SEA/αα type accounted for the largest proportion. Among the 208 β-thalassemia gene carriers, CD41-42 type accounted for the largest proportion. The results of prenatal diagnosis found that among 186 cases of both couples with homotypic high-risk thalassaemia, 54 normal fetuses were detected, accounting for 29.03%(54/186), 44 cases of mild alpha thalassaemia fetuses were detected, accounting for 23.66%(44/186), 10 fetuses with static alpha thalassaemia, accounting for 5.38%(10/186), 23 cases of mild β-thalassemia fetuses were detected, accounting for 12.37%(23/186), and various severe/intermediate fetuses(α-thalassemia, β-thalassemia)were detected. There are 58 fetuses with various severe/intermediate fetuses(α-thalassemia, β-thalassemia, αβ complex), accounting for 31.18%(58/186). Among 58 families with high-risk thalassemia fetuses, 53 fetuses terminated their pregnancy,and 5 fetuses continued their pregnancy. Conclusion The combination of blood routine red blood cell parameters and thalassemia gene testing has a guiding role in pre-pregnancy eugenics and provides a reference for the development of eugenics and childbirth and the prevention of the birth of children with severe thalassaemia.
作者
李文亚
谢程
彭莉
LI Wenya;XIE Cheng;PENG Li(Obstetrics and Gynecology Department,Xiantao First People's Hospital of Hubei Province,Xiantao,Hubei 433000,China;Nephrology,Xiantao First People's Hospital of Hubei Province,Xiantao,Hubei 433000,China)
出处
《中国优生与遗传杂志》
2021年第11期1620-1623,共4页
Chinese Journal of Birth Health & Heredity
关键词
血常规红细胞参数
地中海贫血
基因诊断
优生健康检查
blood routine red blood cell parameters
thalassemia
genetic diagnosis
eugenic health check
