广西百色地区地中海贫血的基因诊断回顾分析  

Genetic Diagnosis of Thalassemia in Baise,Guangxi Zhuang Autonomous Region

作　　者：卢恒 覃茜[1] 李金花[1] 陈甜 梁树杰 陆晓生 LU Heng;QIN Qian;LI Jin-Hua;CHEN Tian;LIANG Shu-Jie;LU Xiao-Sheng(Genetic Laboratory of Baise Maternal and Child Health Hospital,Baise 533000,Guangxi Zhuang Autonomous Region,China;Baise Maternal and Child Health Hospital,Baise 533000,Guangxi Zhuang Autonomous Region,China)

机构地区：[1]百色市妇幼保健院遗传实验室,广西百色533000 [2]百色市妇幼保健院,广西百色533000

出　　处：《中国实验血液学杂志》2021年第3期865-868,共4页Journal of Experimental Hematology

摘　　要：目的:了解广西百色地区地中海贫血的基因型及分布特征,为本地区的地中海贫血预防和诊断提供参考,提高优生质量。方法:选择2019年1至8月在百色市妇幼保健院做产前基因诊断的3 482例孕妇及其配偶,通过Gap-PCR和PCR与DNA反向点杂交进行α、β地中海贫血基因检测,确认地中海贫血基因携带者,并对其进行统计学分析。结果:2 260例(64.90%)样本确认携带地中海贫血基因,其中,α地中海贫血1 459例(64.56%),β地中海贫血617例(27.30%),α复合β地中海贫血184例(8.14%)。1 459例α地中海贫血中,以--SEA/αα(637例,43.66%)、-α3.7/αα(306例,20.97%)、-αCS/αα(143例,9.80%)、-α4.2/αα(124例,8.50%)和-αWS/αα(77例,5.27%)基因型为主;617例β地中海贫血中,以CD17(229例,37.12%)、CD41-42(213例,34.52%)、IVS-I-1(41例,6.65%)、βE(38例,6.16%)和CD71-72(34例,5.51%)基因型为主;184例α复合β地中海贫血中,以--SEA/αα/CD17(24例,13.04%)、-α4.2/αα/CD17(13例,7.07%)、-α3.7/αα/CD41-42(12例,6.52%)和--SEA/αα/CD41-42(12例,6.52%)基因型为主。结论:广西百色地区地中海贫血的基因型较为复杂多样,应结合本地区基因型分布特征,加强本地区地中海贫血产前筛查和诊断,减少出生缺陷,提高优生质量。Objective:To understand the genotypes and distribution characteristics of thalassemia in Baise,Guangxi Zhuang Autonomous Region,to provide references for the prevention and diagnosis of thalassemia in the region and improve the quality of eugenics.Methods:3 482 pregnant women and their spouses from January 2019 to August 2019 in Baise Maternal and Child Health Hospital for prenatal genetic diagnosis were selected,α,β-thalassemia genes were detected by Gap-PCR,PCR and DNA reverse dot hybridization,cases carrying thalassemia gene were confirmed and statistical analyzed.Results:2 260 samples(64.90%) carrying thalassemia gene were found,among which 1 459 cases(64.56%) were diagnosed as α-thalassemia,617 cases(27.30%) as β-thalassemia,184 cases(8.14%) as α complexβ-thalassemia.Among 1 459 α-thalassemia genes,--SEA/αα(637 cases,43.66%),-α 3.7/αα(306 cases,20.97%),-α CS/αα(143 cases,9.80%),-α 4.2/α α(124 cases,8.50%) and-αWS/α α(77 cases,5.27%) were the most common,while among 617 β-thalassemia genes,CD17(229 cases,37.12%),CD41-42(213 cases,34.52%),IVS-I-1(41 cases,6.65%),β E(38 cases,6.16%) and CD71-72(34 cases,5.51%) were the most common.And--SEA/α α/CD17(24 cases,13.04%),-α4.2/α α/CD17(13 cases,7.07%),-α3.7/α α/CD41-42(12 cases,6.52%) and--SEA/α α/CD41-42(12 cases,6.52%) were mainly found in 184 cases of α complex β-thalassemia.Conclusion:Genotyes of thalassemia in Baise,Guangxi Zhuang Autonomous Region are complex and diverse.The prenatal screening and diagnosis of thalassemia in the region should be strengthened in accordance with the characteristics of genetypes in the region,in order to reduce birth defects and improve eugenics quality.

关 键 词：地中海贫血 基因型 构成比 百色地区 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R714.55[医药卫生—内科学]