地中海贫血筛查实用技术的应用研究

目的通过对血常规的MCV（平均红细胞体积）、红细胞脆性试验、血红蛋白电泳分析三种方法筛查α及β地贫,比较其敏感性及特异性。方法全自动血细胞分析仪检测血常规及一管定量法检测RBC脆性,筛选出疑地贫者322例、正常者100例进行HB电泳分析（用美国Helena公司全自动快速电泳系统）和基因分析（GAP-PCR法检测α-THAL基因;反向点杂交-RDB法检测βTHAL基因）,以基因分析作为金标准。结果MCV,红细胞脆性试验,血红蛋白电泳分析三种方法对地中海贫血诊断的敏感性分别为98.8%、78.5%、98.4%,特异性分别为72.4%、83.8%、90.2%。经χ2检验前两种筛查方法敏感性之间差异有统计学意义（P〈0.01）。结论用血常规MCV筛查地贫较红细胞脆性试验筛查敏感性高,方法简便、经济、适用于条件有限的基层医院开展产前地贫筛查,可作为筛查的首选方法,若有条件配合血红蛋白电泳综合分析可提高其准确性。

The application research of operative technology in detecting thalassernia

Objective： By 3 means of MCV, Red cell osmotic fragility （RCOF） test, Hemoglobin （Hb） electrophoresis to screen α and β thalassemia, and to compare their sensitivity and specificity. Methods： 322 samples of uncertain thalassemia and 100 samples of non - thalassemia verified by molecular biologic technique were detected by Hb electrophoresis and gene test. Take gene test to be the gold standard. Results： The sensitivity and specificity of 3 tests were as follow： Those of MCV were 98.8% and 72. 4%, RCOF were 78.5% and 83. 8%, Hb electrophoresis were 98.4% and 90. 2%. There were significant differences of sensitivity between the first 2 tests. Conclusion： MCV test is more sensitive than RCOF test in screening out thalassemia, and it＇s more economical and convenient to be adopted as the first choice to detect thalassemia in poorer and less complete hospitals. The veracity can be increased if Hb electrophoresis cooperates.