两种方法检测α、β-地中海贫血基因携带者的结果比较

Evaluation and comparison of traditional erythrocyte osmotic fragility test and simple tube erythrocyte osmotic fragility quantitative test in the detection of thalassemia

目的 探讨红细胞渗透脆性试验 (简称渗透法 )与红细胞脆性一管定量法 (简称一管法 )在检测地中海贫血中的价值。方法 应用渗透法和一管法结合血红蛋白 ( Hb)电泳同时检测 443例标本 ;采用渗透法阳性判定值为 <3 .2 g/ LNa Cl仍未完全溶血 ,或一管法测定溶血度 <60 % ,或血红蛋白电泳有异常者 ,共 1 2 6例疑似为地中海贫血基因携带者 ,进一步作地中海贫血基因检测以确证。结果 渗透法诊断轻型地中海贫血的敏感度为 77.42 % ,特异性为 93 .75 % ,阳性似然比为 1 2 .3 9;一管法的敏感度为 80 .65 % ,特异性为 92 .1 9% ,阳性似然比为 1 0 .3 3。二法检出阳性率的差异无显著性 ( P>0 .0 5 )。结论 渗透法和一管法均适用于 α、β-地中海贫血基因携带者的筛查 ,因一管法更简单、快速 ,可选为常规检测方法。

Objective To evaluate and compare the role of erythrocyte osmotic fragility test (EOFT) versus simple tube erythrocyte osmotic fragility quantitative test (STEOFQT) in detecting thalassemia. Methods 443 samples were tested by EOFT, STEOFQT and hemoglobin electrophoresis. Suspected thalassemia carriers were found in 126 blood samples which were either the cut-off value of EOFT was hit (less than 3.2 g/L in NaCl concentration) when complete hemolysis did not occur, or the cut-off value of STEOFQT was less than 60% hemolysis, or abnormal in hemoglobin electrophoresis. Further diagnosis were confirmed by gene analysis, which is α and β thalassemia DNA polymerase chain reaction (PCR).Results The sensitivity (77.42%), specificity (93.75%) and positive likelihood ratio (12.39) of the EOFT were close to STEOFQT (80.65%,92.19%,10.33). The positive rate of EOFT showed no statistic significance compared with that of STEOFQT (P>0.05). Conclusion The results indicate that both EOFT and STEOFQT are suitable for thalassemia screening. STEOFQT is better as a routine screening test in clinical laboratory on thalassemia, for it is quicker and simpler.