重庆市垫江地区高风险人群珠蛋白生成障碍性贫血检出率及基因型分布

发布时间：2018-06-29 01:50

本文选题：珠蛋白生成障碍性贫血 + 高风险人群　；参考：《重庆医学》2017年13期

【摘要】：目的研究重庆市垫江县高风险人群珠蛋白生成障碍性贫血的发生率及基因型分布。方法通过检测该院门诊、住院患者和孕前、产前检查夫妇外周血的平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)进行珠蛋白生成障碍性贫血高风险人群筛查,以红细胞平均体积MCV80fL和/或MCH27pg/L作为高危人群判断标准,筛选并收集2013年7月至2016年6月,年龄5个月至83岁珠蛋白生成障碍性贫血高危人群血液标本,对其中404例用跨跃断裂点PCR(Gap-PCR)及反向斑点膜条杂交技术(RDB)法进行基因诊断,未检查到常见突变者进一步通过基因突变热点测序、比对。结果 404人中检出珠蛋白生成障碍性贫血168例(41.6%),其中α-珠蛋白生成障碍性贫血77例(19.0%),β-珠蛋白生成障碍性贫血89例(22.0%),检出β-珠蛋白生成障碍性贫血复合α-珠蛋白生成障碍性贫血双重杂合子1例(0.25%),β-珠蛋白生成障碍性贫血少见型[ⅣS-Ⅱ-81(C-T)]1例(0.25%)。结论垫江县高危人群中珠蛋白生成障碍性贫血总检出率为41.6%,其中β-珠蛋白生成障碍性贫血检出率明显高于α-珠蛋白生成障碍性贫血。
[Abstract]:Objective to study the incidence and genotype distribution of globin induced anemia in high risk people in Dianjiang County, Chongqing. Methods the average red blood cell volume (MCV) and the average erythrocyte hemoglobin content (MCH) for the high risk of globin anemia in the outpatient and prenatal examination of the hospital were examined. Population screening, using the average volume of red blood cell volume MCV80fL and / or MCH27pg/L as the criteria for high risk population, screened and collected blood samples from 5 months to June 2016, aged 5 months to 83 years old with high risk of anemic anaemia, and 404 of them were used in the cross break point PCR (Gap-PCR) and reverse dot blot hybridization (RDB) method. There were 168 cases of globin induced anemia (41.6%) in 404 people, 77 cases of alpha globin anemia (19%), 89 cases of beta globin dysfunction anemia (22%), and beta globin anemia complex. The double heterozygote of alpha globin anemia was 1 (0.25%), and the rare type of beta globin anemia (C-T)]1 (0.25%). Conclusion the total detection rate of globinogenerative anemia in high risk population in Dianjiang county was 41.6%, and the detection rate of beta globin induced anemia was significantly higher than that of alpha globin formation disorder. Sexual anaemia.
【作者单位】：重庆市垫江县人民医院检验科;
【分类号】：R556;R446.11

【相似文献】