10854例珠蛋白生成障碍性贫血基因筛查结果及基因类型分析

发布时间：2018-05-01 23:36

本文选题：α珠蛋白生成障碍性贫血 + β珠蛋白生成障碍性贫血　；参考：《重庆医学》2017年23期

【摘要】：目的了解重庆地区进行孕前检查人群的珠蛋白生成障碍性贫血基因携带率、基因类型和构成比情况。方法对2014年4月至2016年3月在该院进行孕前体检的10 854人进行珠蛋白生成障碍性贫血筛查,筛查包括:平均红细胞体积(MCV)、平均红细胞血红蛋白(MCH)水平,血红蛋白电泳,对筛查结果任意一项异常者行珠蛋白生成障碍性贫血基因检测。结果在10 854人中,珠蛋白生成障碍性贫血初筛阳性者1 117人,筛查阳性率10.29%。珠蛋白生成障碍性贫血基因阳性者共458例,珠蛋白生成障碍性贫血基因携带率4.21%。其中检测出单纯α珠蛋白生成障碍性贫血253例,α珠蛋白生成障碍性贫血基因携带率2.33%,其中α珠蛋白生成障碍性贫血以--SEA最常见,构成比为52.17%。检测出单纯β珠蛋白生成障碍性贫血197例,β珠蛋白生成障碍性贫血基因携带率1.81%,其中β珠蛋白生成障碍性贫血以CD17(A→T)最常见,构成比为31.47%。检测出携带αβ复合型珠蛋白生成障碍性贫血基因11例。结论重庆是珠蛋白生成障碍性贫血高发地区,做好孕前珠蛋白生成障碍性贫血筛查工作,对提高人口素质,实现优生优育具有重要作用。
[Abstract]:Objective to investigate the gene carrying rate, gene type and composition ratio of globin aplastic anemia in prepregnancy screening population in Chongqing area. Methods from April 2014 to March 2016, 10 854 patients who underwent pre-pregnancy physical examination in the hospital were screened for globin aplastic anemia. The screening included: mean erythrocyte volume (MCV), mean erythrocyte hemoglobin (MCH) level, and hemoglobin electrophoresis. Globin-producing aplastic anemia gene was detected in any of the patients with abnormal screening results. Results among 10 854 patients, 1 117 were positive in primary screening of globin aplastic anemia, and the positive rate was 10.29%. There were 458 cases of globin aplastic anemia gene positive. The gene carrying rate of globin aplastic anemia was 4.21%. Among 253 cases of pure 伪 -globin aplastic anemia, the gene carrying rate of 伪 -globin aplastic anemia was 2.33. Among them, sea was the most common one, and the constituent ratio was 52.17. 197 cases of simple 尾 -globin aplastic anemia were detected. The gene carrying rate of 尾 -globin aplastic anemia was 1.81%. The most common type of 尾 -globin aplastic anemia was CD17(A. Eleven cases with 伪尾 complex globin aplastic anemia gene were detected. Conclusion Chongqing is a high incidence area of globin aplastic anemia. It is important to improve the quality of population and realize eugenics and eugeny.
【作者单位】：重庆市妇幼保健院妇保科;
【分类号】：R556.5

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