广西河池地区地中海贫血基因突变类型及民族分布特征分析  

Analysis of Thalassemia Gene Mutation Types and Ethnic Distribution Characteristics in Hechi Area,Guangxi

作　　者：梁丽芳 黄秀宁 李东明[1] 陈碧艳[1,2,3] 陈翔 彭振仁 何升 LIANG Li-Fang;HUANG Xiu-Ning;LI Dong-Ming;CHEN Bi-Yan;CHEN Xiang;PENG Zhen-Ren;HE Sheng(Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region;Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region;Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention;Guangxi Key Laboratory of Birth Defects Research and Prevention,Nanning 530000,Guangxi Zhuang Autonomous Region,China)

机构地区：[1]广西壮族自治区妇幼保健院 [2]广西出生缺陷预防控制研究所 [3]广西生殖健康与出生缺陷防治重点实验室 [4]广西出生缺陷防治基础研究重点实验室,广西南宁530000

出　　处：《中国实验血液学杂志》2024年第4期1191-1196,共6页Journal of Experimental Hematology

基　　金：中央引导地方财政专项基金(桂科ZY1949016);广西医药卫生适宜技术(S2021071);广西医学高层次骨干人才“139”计划(G202003023);广西重点实验室运行补助项目(21-220-22)。

摘　　要：目的:了解广西河池地区人群地中海贫血的基因型、基因突变类型的构成情况及民族分布特征,为本地区地中海贫血防控及优生优育咨询提供参考依据。方法:对疑似地中海贫血人员采用跨越断裂点PCR技术(gap-PCR)、反向斑点杂交技术(RDB)进行基因检测,并对检测结果进行分析。结果:29136例疑似地中海贫血人员样本中共检出地中海贫血基因阳性17016例(检出率58.40%),男性检出率高于女性(χ^(2)=49.917,P<0.001),壮族、汉族、瑶族、仫佬族、毛南族间的地中海贫血基因检出率存在明显差异(χ^(2)=546.121,P<0.001)。α-地中海贫血基因型主要以--SEA/αα(16.67%)、-α3.7/αα(8.90%)、αCSα/αα(6.00%)为主,另检出47例--THAI/αα、2例HKαα/αα、2例--SEA/-α21.9和1例--THAI/αCSα4种罕见基因型;β-地中海贫血基因型以βCD17/βN(7.49%)、βCD41-42/βN(6.70%)、βCD71-72/βN(0.44%)为主;检出中、重型β-地中海贫血108例,其中81例有输血史,60例输血次数大于10次/年,有10例接受了骨髓移植。结论:河池地区地中海贫血以缺失型--SEA/αα为主,少数民族地中海贫血检出率高于汉族,中、重型β-地中海贫血有一定的发生率,中、重型患者多需定期输血及除铁治疗,极少数患者接受了骨髓移植。本研究为该地区地中海贫血防控及优生优育咨询提供了一定的参考依据。Objective:To investigate the genotype,mutation type,and ethnic distribution characteristics of thalassemia in the population of Hechi area,Guangxi,and to provide a reference basis for prevention and control of thalassemia and eugenic counseling in the region.Methods:Gap-polymerase chain reaction(gap-PCR)and reverse dot blot(RDB)were used for genetic testing on suspected thalassemia persons,and the results were analyzed.Results:Among 29136 samples,a total of 17016(58.40%)positive samples for thalassemia genes were detected,with a higher detection rate in males than in females(χ^(2)=49.917,P<0.001).The detection rates of thalassemia genes were significant different among Zhuang,Han,Yao,Mulao,and Maonan ethnic groups(χ^(2)=546.121,P<0.001).Theα-thalassemia genotypes were mainly--~(SEA)/αα(16.67%),-α~(3.7)/αα(8.90%),α~(CS)α/αα(6.00%).Additionally,four rare genotypes were detected,including--~(THAI)/αα(47 cases),HKαα/αα(2 cases),--~(SEA)/-α~(21.9)(2 cases),and--~(THAI/)α~(CS)α(1 case).Theβ-thalassemia genotypes were mainlyβ~(CD17)/β~N(7.49%),β~(CD41-42)/β~N(6.70%),β~(CD71-72)/β~N(0.44%).108 cases of moderate and severeβ-thalassemia were detected,of which 81 cases had a history of blood transfusion,the transfusion frequency of 60 cases was more than 10 times/year,and 10 cases received bone marrow transplantation.Conclusion:Thalassemia in Hechi area is predominantly deletion type--SEA/αα,the detection rate of thalassemia in ethnic minorities is higher than that in Han population.In this area,moderate and severeβ-thalassemia have certain incidence,these patients mostly need regular blood transfusion and iron removal treatment,and very few patients have received bone marrow transplantation.This study provides a certain reference basis for prevention and control of thalassemia and eugenic counseling in the region.

关 键 词：河池地区 地中海贫血 基因型 突变类型 民族 

分 类 号：R556.61[医药卫生—血液循环系统疾病]