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。
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.
关键词
地中海贫血 /
基因型 /
入托体检
Key words
thalassemia /
genotype /
physical examination
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基金
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)
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