Analysis of thalassemia gene detection in children attending physical examination in Chengdu area

doi:10.11852/zgetbjzz2019-0227

journal1 ›› 2019, Vol. 27 ›› Issue (12): 1339-1341.DOI: 10.11852/zgetbjzz2019-0227

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Analysis of thalassemia gene detection in children attending physical examination in Chengdu area

YU Xia^1,2, LIU Cheng-gui¹, SHEN Wei¹, YANG Lian¹, LIAO Zhi-yong¹, LIU Rui¹,ZHU Jing²

1 Department of Medicine, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu,Sichuan 611731, China;
2 Pediatric Research Institute; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing 400014, China

Received:2019-02-24 Revised:2019-03-20 Online:2019-12-10 Published:2019-12-10
Contact: ZHU Jing,E-mail: jingzhu@cqmu.edu.cn

成都地区入托体检儿童地中海贫血基因检测结果分析

于霞^{1, 2}, 刘成桂¹, 沈伟¹, 杨炼¹, 廖志勇¹, 刘锐¹, 朱静²

1 电子科技大学医学院附属妇女儿童医院·成都市妇女儿童中心医院检验科,四川成都 611731;
2 重庆医科大学附属儿童医院儿科研究所,儿童发育与疾病研究教育部重点实验室;国家儿童健康与疾病临床医学研究中心,儿童发育重大疾病国家国际科技合作基地,儿科学重庆市重点实验室,重庆 400014

通讯作者: 朱静,E-mail:jingzhu@cqmu.edu.cn
作者简介:于霞(1986-),女,四川人,主管技师,硕士研究生,主要从事地中海贫血的实验室检查及产前诊断
基金资助:
国家自然科学基金资助项目(81670270);四川省卫生计生委资助项目(17PJ521)

Abstract

Abstract: Objective To analyze the gene carrying rate and genotype of thalassemia in children undergoing physical examination in Chengdu,so as to provide basis for formulating preventive measures against thalassemia in this area. Methods A retrospective analysis was made on the results of blood routine test and thalassemia gene test in 8 327 children who underwent nursery examination in Chengdu Women & Children's Central Hospital from January 2017 to June 2018. Results A total of 423 cases(5.07%) of small cell hypochromic anemia were detected in 8 327 children.And 158 cases(1.90%) were diagnosed with thalassemia by gene testing,of which 64 cases(40.51%) were diagnosed with alpha-thalassemia,with the highest detection rate of --^SEA/αα(29.75%).And 94 cases(59.49%) were diagnosed with beta-thalassemia,with the highest detection rate of CD41/42(-TCTT)(34.18%). Conclusion Prevention and control of thalassemia in Chengdu mainly focus on preventing the birth of Parkinson's edema fetus and severe beta-thalassemia children,and take corresponding measures to reduce the carrying rate of thalassemia.

Key words: thalassemia, genotype, physical examination

摘要： 目的分析成都市入托体检儿童地中海贫血(简称地贫)基因携带率及基因类型,为制定该地区的地贫预防措施提供依据。方法回顾性分析2017年1月-2018年6月在成都市妇女儿童中心进行入托体检的8 327例儿童血常规及地中海贫血基因检测结果。结果 8 327例儿童血样中共检出小细胞低色素贫血423例(5.07%);基因检测确诊为地贫患者共有158例(1.90%),其中α -地贫64例(40.51%),以--^SEA/αα检出率最高(29.75%);β-地贫94例(59.49%),以CD41/42(-TCTT)检出率最高(34.18%)。结论成都市地贫的防控主要以预防巴氏水肿胎和重型β-地贫患儿的出生为主并采取相应措施降低其携带率。

关键词: 地中海贫血, 基因型, 入托体检

CLC Number:

:R725.5
R440

YU Xia, LIU Cheng-gui, SHEN Wei, YANG Lian, LIAO Zhi-yong, LIU Rui,ZHU Jing. Analysis of thalassemia gene detection in children attending physical examination in Chengdu area[J]. journal1, 2019, 27(12): 1339-1341.

于霞, 刘成桂, 沈伟, 杨炼, 廖志勇, 刘锐, 朱静. 成都地区入托体检儿童地中海贫血基因检测结果分析[J]. 中国儿童保健杂志, 2019, 27(12): 1339-1341.

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Analysis of thalassemia gene detection in children attending physical examination in Chengdu area

成都地区入托体检儿童地中海贫血基因检测结果分析

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