摘要
目的调查广西南宁市开展免费婚栓以来自愿接受珠蛋白生成障碍性贫血筛查的现况。方法用血红蛋白电泳法联合血细胞分析仪检测红细胞平均体积（MCV）和红细胞平均血红蛋白含量（MCH），同时进行红细胞渗透脆性试验，对所有受栓对象进行珠蛋白生成障碍性贫血筛查；同时用多重聚合酶链反应（PCR）和反向斑点杂交法（RDB）对部分筛查结果异常者进行珠蛋白生成障碍性贫血基因诊断。结果在7896例受检者中，共筛查出1432例异常，占18．14％。有166例接受珠蛋白生成障碍性贫血基因诊断，占筛查异常者的11．59％；经基因诊断，排除珠蛋白生成障碍性贫血29例，占17．47％，确诊137例，占82．53Vo；其中，α珠蛋白生成障碍性贫血94例，占68．61％；β珠蛋白生成障碍性贫血42例，占30．66％；α复合B珠蛋白生成障碍性贫血1例，占0．73％。结论广西南宁市免费婚检人群珠蛋白生成障碍性贫血筛查检出率较高，接受珠蛋白生成障碍性贫血基因检测比率较低，需加大宣传力度，进行婚育指导，对优生优育工作，提高人口素质有重要意义。
Objective To survey the current status of glohin generate anemia screening （referred to as the poor） to voluntary acceptance for free premarital examination in Guangxi Nanning. Methods Used hemoglobin electrophoresis to joint blood cells analyzer test average red blood cell volume （MCV） and red blood cell average hemoglobin content （MCH）,and the red blood cells infiltration brittleness test,examination of all objects for the Mediterranean anemia screening. At the same time, used the multiple polymerase chain reaction （PCR） and reverse spots hybrid method （RDB） to some of the screening,poor results incidence gene diagnosis. Results In the 7 896 cases, there were 1 432 abnormal cases,accounted for 18. 14%. There were 166 cases acceptable poor genetic diagnosis, accounting for screening 11.59%discrepancy. The genetic diagnosis, elimi- nate poverty in 29 cases,17.47%. Diagnosed in 137 cases,accounting for 82.53%. Among them,and alpha to lean in 94 ca- ses, accounting for 68. 61% ; β1 to poor 42 cases, 30. 66 % ;α composite β 1 case to the poor, accounting for 0. 73 %. Conclusion Guangxi Nanning free check-ups to poor people screening high rate,accept to poor gene detection rate is low. The need to enhance propaganda, whereas preconceived notions of guidance on prenatal and postnatal care, improving the population qual- ity to have the important meaning.
出处
《现代检验医学杂志》
CAS
2012年第2期96-98,共3页
Journal of Modern Laboratory Medicine
关键词
婚检人群
珠蛋白生成障碍性贫血
血红蛋白电泳
基因诊断
sheck-ups crowd
the globin generation anemia
hemoglobin electrophoresis
genetic diagnosis
