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作 者:罗红艳[1] 张良[1] 杨杰[1] 王燕[1] 刘蕊[1] 徐相琴[1]
机构地区:[1]四川省自贡市妇幼保健院儿科,四川自贡643000
出 处:《中国优生与遗传杂志》2016年第10期127-130,共4页Chinese Journal of Birth Health & Heredity
摘 要:目的了解自贡市儿童地中海贫血的发病率及基因构成情况,为制定自贡市地中海贫血防治策略、降低地中海贫血发病率提供参考。方法以整群随机抽样的方法选取自贡市户籍1000名儿童进行地中海贫血筛查,包括血常规、血红蛋白电泳及基因检测,并进行统计学分析。结果在1000名受检儿童中,初筛阳性率为87.6%(876/1000),基因确诊阳性率为8.9%(89/1000)。在89例经基因检测确诊为地中海贫血的患儿中,携带α-地中海贫血基因者49例,占总检查人数的4.9%;携带β-地中海贫血基因者39例,占总检查人数的3.9%;同时携带α、β地中海贫血基因者1例,占总检查人数的0.1%。结论自贡市儿童地中海贫血发病率较高,其发病率在所调查的性别、年龄中无明显差异,该基线调查为进行地中海贫血防控及干预工作提供了有价值的基础资料。Objective:To understand the childrenˊs mediterranean anemia incidence of Zigong city and its genetic makeup,for the development of Zigong mediterranean anemia prevention strategy,effectively reduce the mediterranean anemia incidence of a disease to provide the reference. Methods:In the form of cluster random sampling,a total 1000 children in areas of Zigong were screened the mediterranean anemia,including blood routine examination,hemoglobin electrophoresis,and geneticanalysis,statistical analysis was carried on. Results:In the 1000 children tested,early screening positive for 876 cases,accounting for 87.6% of the total number check;confirmed with mediterranean anemia genes in 89 cases,8.9% of the total number check;which carry α-thalassemia in 49 sase,4.9% of the total number check;which carry β-thalassemia in 39 sase,3.9% of the total number check;at the same time to carry αβ-thalassemia in 1 case,0.1% of the total number check. Conclusions:The childrenˊs mediterranean anemia genes carry rate is higher,its incidence among gender,no signeficant differences in age,the baseline survey work for the mediterranean anemia prevention and intervention provided valuable basic data,developing effective mediterranean anemia prevention strategy to reduce the birth rate in children with mediterranean anemia,it is very important to improve the population quality of Zigong city area.
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