成都地区入托体检儿童地中海贫血基因检测结果分析

doi:10.11852/zgetbjzz2019-0227

中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (12): 1339-1341.DOI: 10.11852/zgetbjzz2019-0227

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

收稿日期:2019-02-24 修回日期:2019-03-20 发布日期:2019-12-10 出版日期:2019-12-10
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)

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

摘要/Abstract

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

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

中图分类号:

:R725.5
R440

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.

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.

参考文献

[1] Muncie Jr HL,Campbell J.α and β thalassemia[J].Am Fam Physician,2009,80(4):339-344.
[2] Lin M,Wen YF,Wu JR,et al.Hemoglobinopathy:Molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region,southern China [J].PLoS One,2013,8(2):e55024.
[3] He S,Li J,Li DM,et al. Moleular characterization α- and β-thalassemia in the Yulin region Southern China[J].Gene,2018,655:61-64.
[4] Sheng HE,Jihui LI,Dong-ming LI,et al.Molecular Characterization of α- and β-thalassemia in the Yulin region of Southern China[J].Gene,2018,655:61-64.
[5] 黄烁丹,邹婕妤,庄宇嫦,等.广东梅州地区地中海贫血基因突变类型分析[J].新医学,2016,47(4):261-265.
[6] 王乐见,史春娟,徐友文,等.台州市6个月~6岁儿童贫血状况调查分析[J].中国卫生检验杂志,2017,27(21):3164-3167.
[7] Ketong LAI,Guifeng HUANG,Li SU,et al.The prevalence of thalassemia in mainland China:evidence from epidemiological surveys[J].Scientific Reports,2017,7(1):920-920
[8] 黄梅.“湖广填四川”移民现象的历史考察[J].重庆社会科学,2017,35(3):87-91.
[9] He S,Li DM,Lai YL,et al.Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region,China[J].Arch Gynecol Obstet,2014,289(1):61-65.
[10] Yin A,Li B,Luo M,et al.The prevalence and molecular spectrum of a- and b-globin gene mutations in 14,332 families of Guangdong Province,China[J].PLoS One,2014,9(2):e89855.
[11] Tang W,Zhang C,Lu F,et al.Spectrum of alpha-thalassemia and beta-thalassemia mutations in the Guilin Region of southern China[J].Clin Biochem,2015,48(16-17):1068-1072.
[12] Wu H,Wang H,Lan L,et al.Invasive molecular prenatal diagnosis of alpha and beta thalassemia among Hakka pregnant women[J].Medicine(Baltimore),2018,97(52):e1355.
[13] Xia YU,Li-ye YANG,Hui-tian YANG,et al.Molecular epidemiological investigation of thalassemia in the Chengdu region,Sichuan province,Southwest China[J].Hemoglobin,2015,39(6):393-397.
[14] 何秀凤.探讨血常规初筛、基因检测在地中海贫血中的临床价值[J].中国实用医药,2017,19(12):70-71.
[15] 文飞球,刘四喜.启动重型β地中海贫血防控的攻坚战[J].中华儿科杂志,2018,56(10):721-723.
[16] 周定竹.孕期地贫筛查的重要性和必要性[J].中国保健营养,2018,28(8):243-244.
[17] Li Q,Li Y,Zhong M,Zhang VW,et al.A rare Hb H hydrops fetalis syndrome caused by the --^SEA deletion in combination with the rare Hb hirosaki mutation in a Chinese patient[J].Hemoglobin,2018,42(4):278-280.
[18] 夏建红,赵庆国,李兵,等.巴氏水肿胎儿序列征流行趋势及干预对策[J].中国优生与遗传杂志,2005,13(7):104-106.
[19] 陆祝选.去铁治疗在地中海贫血中的应用研究进展[J].国际检验医学杂志,2017,38(11):1523-1524.
[20] 朱琳,林延润,杨发达.南海区地中海贫血预防与控制体系的建立[J].医学检验与临床,2018,29(5):30-32.

成都地区入托体检儿童地中海贫血基因检测结果分析

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

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 15

编辑推荐

Metrics

[1]	宿潇潇, 彭慧芳, 姜宏卫, 娄丹, 姜志红. 德朗热综合征1例并中国109例文献复习[J]. 中国儿童保健杂志, 2022, 30(2): 229-232.
[2]	柯海燕, 李胜, 朱彦儒, 雷琳, 江鸿, 费安兴. 黄石地区30554例新生儿地中海贫血筛查的基因型和临床表型分析[J]. 中国儿童保健杂志, 2020, 28(3): 328-330.
[3]	段丽, 黎瞳, 王峰. 重型β-地中海贫血患儿的甲状腺功能与铁过载的关系分析[J]. 中国儿童保健杂志, 2020, 28(1): 86-88.
[4]	高延, 洪琦, 吴慧旦, 郭辉, 蒋滔滔, 夏慧芸, 马晓樱, 丁碧蓝, 卓秀慧, 白婷. 基因型-表型关联分析在孤独症谱系障碍早期诊断的研究[J]. 中国儿童保健杂志, 2018, 26(7): 733-736.
[5]	杨金玲, 蔡稔, 谭建强, 陈大宇, 黄丽华, 韦江艳, 兰海幽. 毛细管血红蛋白电泳筛查新生儿中重度β地中海贫血截断值探讨[J]. 中国儿童保健杂志, 2018, 26(6): 606-610.
[6]	孔宪玲, 肖生平, 黄晓红, 陈昂. 重型β地中海贫血患儿身高和体重定量分析及相关因素[J]. 中国儿童保健杂志, 2018, 26(6): 622-625.
[7]	杨金玲, 陈大宇, 谭建强, 黄丽华, 严提珍, 韦江艳, 蔡稔, 兰海幽. 早产儿β地中海贫血筛查分析[J]. 中国儿童保健杂志, 2018, 26(5): 468-471.
[8]	朱晓洁, 刘露, 刘瑞玉, 李旭艳, 曾宏, 曹碧红, 王春晖, 曾文冰. 2例罕见地中海贫血家系分析及产前诊断[J]. 中国儿童保健杂志, 2018, 26(3): 298-300.
[9]	林向斌,韩宙欣,李治亲,黄坚福,龙昌. 地中海贫血夫妇孕育的245例儿童体检结果分析[J]. 中国儿童保健杂志, 2017, 25(11): 1163-1165.
[10]	朱晓洁,刘宇鹏,刘瑞玉,余小燕,林敏,陈江涛,李旭艳,何丽. 惠州市同型β地中海贫血夫妇的胎儿产前地贫基因诊断分析[J]. 中国儿童保健杂志, 2015, 23(8): 804-806.
[11]	李仕勇，陈一菁，邹金林，班克创，陈剑锋. 地中海贫血患儿维生素D水平及影响因素分析[J]. 中国儿童保健杂志, 2015, 23(2): 119-122.
[12]	郑雷,童凡. 影响甲基丙二酸血症患儿临床疗效及预后的分子生物学机制分析[J]. 中国儿童保健杂志, 2015, 23(11): 1169-1171.
[13]	王春芳,韦传东,雷茗,张婷,王俊利,罗宏成,农乐根. ^Gγ⁺(^Aγδβ)⁰地中海贫血复合β地中海贫血家系的表型与基因型分析的警示[J]. 中国儿童保健杂志, 2015, 23(11): 1191-1193.
[14]	朱晓洁,刘宇鹏,刘瑞玉,余小燕,林敏,陈江涛,李旭艳,何丽. 惠州市同型α地中海贫血夫妇的胎儿产前地贫基因诊断分析[J]. 中国儿童保健杂志, 2015, 23(1): 15-17.
[15]	陈红英,邹艳,刘春艳,刘文君. 四川泸州地区贫血患儿地中海贫血筛查和基因诊断结果分析[J]. 中国儿童保健杂志, 2013, 21(11): 1139-1141.