引用本文:李友琼,何 升,丘小霞,董柏青,陈碧艳,韦 慧,黄秀宁,赵 林,梁 亮,覃 婷,田 矛,黎君君.2010~2019年广西地中海贫血发生现状与防治策略[J].中国临床新医学,2020,13(10):955-959.
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2010~2019年广西地中海贫血发生现状与防治策略
李友琼,何 升*,丘小霞,董柏青,陈碧艳,韦 慧,黄秀宁,赵 林,梁 亮,覃 婷,田 矛,黎君君
530021 南宁,广西壮族自治区人民医院医学遗传与产前诊断中心(李友琼,梁 亮,覃 婷,田 矛),检验科(赵 林);530000 南宁,广西壮族自治区妇幼保健院遗传代谢中心实验室,广西出生缺陷预防控制研究所(何 升,丘小霞,陈碧艳,韦 慧,黄秀宁);530001 南宁,广西中医药大学(董柏青);530021 南宁,广西壮族自治区卫生健康委员会(黎君君)
摘要:
[摘要] 地中海贫血是一组以溶血性贫血为特征的遗传性单基因病,在中国主要发生于长江以南的地区,其中广西携带率最高,是导致广西出生缺陷患儿增多的最重要影响因素之一。该文阐述了最近十年来,广西地中海贫血发生的现状和取得的成就,并阐述了广西地中海贫血防控采取的三级防控策略和政府部门的政策干预措施,为进一步加强地中海贫血防控工作提出建议。
关键词:  地中海贫血  现状  防控  出生缺陷
DOI:10.3969/j.issn.1674-3806.2020.10.01
分类号:R 556.6+1
基金项目:国家自然科学基金项目(编号:81660034);中央引导地方科技发展专项基金项目(编号:桂科ZY1949016);广西自然科学基金项目(编号:2016GXNSFAA380078);广西卫健委科研课题(编号:Z20200076)
Current status and prevention strategy of thalassemia in Guangxi from 2010 to 2019
LI You-qiong, HE Sheng, QIU Xiao-xia, et al.
Center for Medical Genetics and Prenatal Diagnosis, the People′s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China
Abstract:
[Abstract] Thalassemia is a group of hereditary monogenic diseases characterized by hemolytic anemia. In China, thalassemia mainly occurs in the areas south of the Yangtze River, among which Guangxi has the highest carrier rate, which is one of the most important factors leading to the increase of birth defects in Guangxi. In this paper, the current status and achievement of thalassemia in Guangxi in recent ten years are described. The three-level prevention and control strategies and government departments′ policy intervention measures for thalassemia prevention and control in Guangxi are introduced, and the suggestions for further strengthening the prevention and control of thalassemia are put forward.
Key words:  Thalassemia  Current status  Prevention and control  Birth defect

*共同第一作者