广西三城市7岁以下儿童α地中海贫血基因型  

The research of α-Thalassemia genotypes on children under 7 years old in Nanning,Liuzhou and Baise areas of Guangxi province

作　　者：曾小云[1] 陈晨春[2] 陈萍[3] 钟秋安[1] 仇小强[1] 

机构地区：[1]广西医科大学公共卫生学院流行病学教研室,广西南宁5300211 [2]广西南宁市疾病预防控制中心 [3]广西医科大学医学科学实验中心

出　　处：《中国妇幼保健》2014年第3期413-416,共4页Maternal and Child Health Care of China

基　　金：广西科学研究与技术开发计划项目〔桂科攻1140003A-4〕;广西科技基础条件合重点实验建设项目〔11-031-07;12-071-05;13-051-12〕

摘　　要：目的:探讨广西南宁、柳州、百色3个城市7岁以下儿童地中海贫血基因突变类型及其构成情况。方法:采用多阶段整群抽样方法,抽取广西南宁、柳州、百色3个城市幼儿园9所,共2 044例7岁以下儿童,采集血液标本,进行血常规检测、血红蛋白电泳和血红蛋白A2(HbA2)定量分析,进一步应用PCR方法检测珠蛋白基因突变进行地贫基因诊断。结果:2 044名7岁以下儿童中,267名儿童为α地贫可疑者,进一步进行地贫基因诊断,共检出172例珠蛋白基因突变,其中8例为HbH病,118例为轻型地贫,46例为静止型地贫;72例地贫基因型构成比依次为:--SEA/αα(66.28%),-α3.7/αα(12.80%),-α4.2/αα(6.98%),αCSα/αα(6.40%),--SEA/-α3.7(1.74%),--SEA/αCSα(1.74%),--SEA/-α4.2(1.16%),--Thai/αα(1.16%),-α3.7/-α3.7(0.58%),-α3.7/-α4.2(0.58%),αQSα/αα(0.58%)。结论:广西7岁以下儿童地贫常见基因型为--SEA/αα,-α3.7/αα,-α4.2/αα和αCSα/αα,少见基因型为--SEA/-α3.7,-SEA/αCSα,-SEA/-α4.2,--Thai/αα,-α3.7/-α3.7,-α3.7/-α4.2,αQSα/αα。Objective： To investigate the types and compositions of gene mutations in children under seven years old with thalassemia in the cities of Nanning, Liuzhou and Bai＇se of Guangxi province. Methods： By using multi - stage cluster sampling method, 2 044 children under seven years old were selected from nine kindergartens in Nanning, Liuzhou and Bai＇se of Guangxi province. Their blood samples were collected for routine blood tests, hemoglobin electrophoresis and hemoglobin A2 （HbA2） quantitative analysis. Children who met the following conditions were chosen as suspicious person with o~ - thalassemia： ①the mean corpuscular volume （MCV） 70f and HbA2 〈 3.5% or ②Hb CS stripe occurred or ③Hb H zone occurred. Then globin gene mutations were detected by using polymerase chain reaction method. Results： Among the 2 044 children, 267 children were suspicious ones with α -thalassemia. 172 children were diagnosed as globin gene mutations using thalassemia gene diagnosis method, including 8 of HbH disease, 118 of minor Thalassemia and 46 of silent Thalasse-mia. The order of composition ratio of thalassemia gene type in the 172 children were：- -SEA/ -α3.7,- 4.2 , CS/ , - -SEA/- α^3.7 , - -SEA/CS , - -SEA/- 4. 2, - -Thai/ ,-α^3.7/-α^3.7, -α3.7/- 4. 2, QS/,the ratios of which were 66. 28%, 12. 80%6. 98%, 6. 40%, 1.74%, 1.74%, 1.16%, 1.16%, 0. 58%, 0. 58%, 0. 58%. Conclusion： The common gene types of thalassemia in children under seven years old in Guangxi province are - -SEA/ -α^3.7/ , - 4. 2/ , CS/and the rare gene types are - -SEA/- α^3.7,- -SEA/CS , - -SEA/- 4.2, - -Thai/ , -α^3.7/-α^3.7, -α^3.7/ -α^4.2, QS/.

关 键 词：广西 儿童 地中海贫血 基因型 

分 类 号：R725.5[医药卫生—儿科]