首页 | 本学科首页   官方微博 | 高级检索  
     

不同人群地中海贫血筛查及基因诊断结果分析
引用本文:周秀琴,童顺桃,黄振勇. 不同人群地中海贫血筛查及基因诊断结果分析[J]. 中国煤炭工业医学杂志, 2010, 13(4): 497-498
作者姓名:周秀琴  童顺桃  黄振勇
作者单位:广东省清远市人民医院妇产科实验室;广东省清远市人民医院检验科;
摘    要:目的了解不同人群地中海贫血的分布情况。方法对本院就诊贫血患者、孕产妇、婚检人群及新生儿共5010例,采用红细胞平均体积、红细胞脆性及血红蛋白电泳三种方法联合检测地中海贫血;对其中150例经基因分析确诊患者的基因型进行分析。结果 5010例受检者中检出地中海贫血864例,阳性率为17.25%(864/5010),以贫血患者阳性率最高为35.00%左右,明显高于其余三组的10.94%~19.07%(P〈0.05),其他血红蛋白疾病19例,阳性率为0.38%(19/5010)。150例基因分型地中海贫血患者中,α地贫以-SEA/αα基因型为主,占92.41%;β地中海贫血以41-42M杂合子为主,占50.00%。结论本地区属地贫高发区,不同人群α、β地中海贫血检出率各有高低,本研究结果为开展遗传咨询及产前诊断提供了有价值的实验室资料,对有效地预防中、重型地中海贫血儿出生具有重大意义。

关 键 词:地中海贫血  红细胞平均体积  红细胞脆性  血红蛋白电泳  基因分析

ANALYSIS ON SCREENING AND GENE DIAGNOSIS OF THALASSEMIA IN 5010 SPECIMENS OF VARYING DROVE
Zhou Xiuqin,Tong Shuntao,Huang Zhenyong. ANALYSIS ON SCREENING AND GENE DIAGNOSIS OF THALASSEMIA IN 5010 SPECIMENS OF VARYING DROVE[J]. Chinese Journal of Coal Industry Medicine, 2010, 13(4): 497-498
Authors:Zhou Xiuqin  Tong Shuntao  Huang Zhenyong
Affiliation:Zhou Xiuqin,Tong Shuntao,Huang Zhenyong. The People's Hospital of Qingyuan City,Qingyuan 511500,China
Abstract:Objective To investigate the distribution of thalassemia in varying drove. Methods 5010 specimens of anemia patients,pregnant women,marriage examination group,and neonatal were tested by mean corpuscular volume,erythrocyte fragility test,and hemoglobin electrophoresis,the genotypes of 150 final diagnosis thalassemia were analysed. Results Of all the 5010 samples,864 case were positive for thalassemia,the positive rate was 17.25% ( 864/5010),the positive rate of anemia patients was about 35.00%,it was the hi...
Keywords:thalassemia  mean corpuscular volume  erythrocyte fragility  hemoglobin electrophoresis  gene analysis  
本文献已被 CNKI 维普 万方数据 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号