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三种红细胞渗透脆性试验用于地中海贫血筛查的临床应用评价 被引量:12

Evaluation of Three Red Cell Osmotic Fragility Tests in Screening for Thalassemias
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摘要 目的 评价临床上常用的 3种红细胞渗透脆性试验作为临床地中海贫血 (地贫 )筛查技术的准确性及其应用价值。方法 以双盲试验对临床送检的 45 3份血样分别采用 3种红细胞渗透脆性试验、分子筛查手段和铁代谢状态分析检测红细胞溶血率、珠蛋白基因型和缺铁性贫血。结果 以分子筛查方法结合铁代谢状态作为诊断地贫和缺铁性贫血的金标准 ,双管、改良的单管和两管红细胞渗透脆性试验筛查地贫的有效率分别为 90 .3 %、86.8%和 85 .4% ;特异性分别为 99.4%、99.4%和 10 0 % ;敏感度分别为 88.6%、84.3 %和 77.7% ;总的误诊率分别为 9.7%、13 .2 %和 14 .6% ;对孕妇血样漏检率分别高达 2 7.7%、3 4.4%和 3 7.7%。结论 三种红细胞脆性试验均能较好地筛出地贫 ,其中以双管法最佳、单管法次之 ,两管法居末 ,但这些方法均不宜作为妊娠期筛查地贫的技术手段。 Objective To evaluate and compare the efficiency of three red cell osmotic fragility tests (ROFT) in screening for thalassemia.Methods A total of 453 clinical blood samples were screened for thalassemias with double-tubes,and modified single-tube and two-tubes red cell osmotic fragility tests (DTROFT,and M-STROFT and TTROFT),genotypes of α-and β-globin genes and Ironic metabolic state of the samples were determined simultaneously in a double-blind manner.Results Molecular diagnosis combined with analysis of Ironic metabolic state as gold diagnostic standard of thalassemia-carrier and Iron-deficiency anemia (IDA),the efficacy of discriminate function of M-STROFT and DTROFT and TTROFT for screening of microcytosis was 90.3% and 86.8% and 85.4%,the specificity was 99.4% and 99.4% and 100%,the sensitivity 88.6% and 84.3% and 77.7%,the total misdiagnostic rate was 9.7% and 13.2% and 14.6%,respectively.The false-negative rate of three screening tests for pregnant women with microcytosis was as high as 27.7% and 34.4% and 37.7% in sequence.Conclusions Three ROFTS served as helpful approaches in screening for thalassemias,DTROFT shows better efficicasy of discriminate function,and specificity and sensitivity and lower total misdiagnostic rate,followed by M-STROFT and then TTROFT,but these screening tests for thalassemias are not unsuitable for screening for pregnant women who are thalassemia-carriers or IDA.
出处 《海南医学》 CAS 2004年第4期15-17,共3页 Hainan Medical Journal
关键词 红细胞渗透脆性试验 地中海贫血 筛查 临床应用 评价 小红细胞症 Microcytosis Thalassemia Iron-deficiency anemia Red cell osmotic fragility tests Molecular diagnosis
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