联合检测在珠蛋白生成障碍贫血诊断中的价值

The value of combined detection for diagnosing of thalassemia

目的探讨在珠蛋白生成障碍贫血高发区,红细胞平均体积(MCV)、红细胞脆性和血红蛋白电泳(Hb电泳)联合检测在珠蛋白生成障碍贫血诊断中的应用价值。方法对2008年1月至2009年12月在本院遗传实验室检查已被基因诊断证实的309例珠蛋白生成障碍贫血患者和201例非珠蛋白生成障碍贫血者进行回顾性分析。结果 MCV、红细胞脆性、Hb电泳单项检测对珠蛋白生成障碍贫血诊断的灵敏度和特异性分别为93.9%、82.2%、82.8%及85.1%、88.6%、79.1%;MCV加Hb电泳、MCV加红细胞脆性试验,两项联合检测的灵敏度及特异性分别为99.7%、99.7%及75.6%、84.1%。经u检验,联合检测的灵敏度与各单项检测灵敏度之间差异有统计学意义(P<0.05)。结论 MCV加电泳及MCV加脆性检测优于单项检测。建议条件有限的基层医院用MCV加红细胞脆性筛查珠蛋白生成障碍贫血,简单、易行。有条件的医院用MCV+Hb电泳筛查珠蛋白生成障碍贫血,灵敏度、准确度均高,并能对其他异常血红蛋白病作出诊断。

Objective To investigate the value of the combined detection of the mean corpuscular volume （MCV ）,red blood cell （RBC ）and smotic fragility test and the test of hemoglobin（Hb） electrophoresis for diagnosing the thalassemia in the high incidence area of thalassemia .Methods 309 samples of thalassemaia patients and 201 samples of nonthalassemia verified by means of molecular biologic technique in the Evgenic and Genetic Laboratory of my hospital were analyzed .Results The sensitivity and specificity of each single test was as follow ：Those of MCV test were 93.9% and 85.1% respectively; those of RBC osmotic fragility test were 82.2% and 88.6% respectively; and those of Hb electrophores were 82.8% and 79.1% respectively. The sensitivity and specifility of combined of MCV with RBC osmotic fragitity test were 99.7% and 75.6% and those of MCV with Hb electrophoresis were 99.7% and 84.1% respectively. By u test,there were significant difference in the sensitivity and specificity between the single test and the combined two tests （P0.05）.Conclusion The combined dectection of MCV ＋RBC osmotic fragitity test and MCV ＋Hb electrophoresis is better than the single one.Primary hospitals should be suggested to use MCV＋RBC osmotic fragitity test as the screening of thalassemia .The hospitals with enough resources can use MCV ＋Hb electrophoresis as the screening of thalassemia,which can also be used to diagnose the other abnormal Hb.