常用筛查方法在地中海贫血诊断中的临床应用

目的探讨常用地中海贫血(简称地贫)筛查方法红细胞平均体积(MCV)、红细胞脆性试验(一管定量法)、血红蛋白(Hb)电泳分析等单项或联合检测在地贫诊断中的应用。方法研究对象来自肇庆市第一人民医院产检、婚检及健康体检者,经基因确诊为地贫200例,非地贫80例,分析其MCV、红细胞脆性试验、Hb电泳分析等不同检测方法单项或联合检测诊断地贫的灵敏度和特异度。结果 MCV、红细胞脆性试验、Hb电泳分析等3种方法单项检测对地贫诊断的灵敏度分别为97.5%、86.0%和82.0%,特异度分别为76.3%、88.8%和93.8%,MCV与红细胞脆性试验联合检测的灵敏度和特异度分别为80.5%、90.0%,红细胞脆性与Hb电泳分析的灵敏度和特异度分别为75.5%和95.0%,MCV与红细胞脆性及Hb电泳3项联合检测的灵敏度和特异度为72.0%、100%。结论用MCV筛查地贫灵敏度较高,可作为筛查的首选方法 ,MCV、红细胞脆性试验及Hb电泳联合检测能大大提高诊断特异度。但这些方法对α地贫,尤其是轻型及静止型α地贫漏诊率较高。

Clinical application of commonly used screening methods for diagnosis of thalassemia

Objective To study the value of the red cell mean corpuscular volume（MCV）,red blood cell （RBC）osmotic fragility test,hemoglobin（Hb） electrophoresis in the screening of thalassemia.Methods 200 samples of thalassemia and 80 samples of non-thalassemia verified by molecular biologic technique were detected by MCV test,RBC osmotic fragility test and Hb electrophoresis.To evaluate the sensitivity and specificity of different single test and combined detection.Results The sensitivity and specificity of single test were as follows：MCV 97.5% and 76.3% ,RBC osmotic fragility test：86.0% and 88.8%,Hb electrophoresis 82.0% and 93.8%.The sensitivity and specificity of combined MCV with RBC osmotic fragility test were 80.5% and 90.0%,RBC osmotic fragility test with Hb electrophoresis were 75.5% and 95.0%,MCV and RBC osmotic fragility test with Hb electrophoresis were 72.0% and 100%.Conclusion MCV test is more sensitive test in screening out thalassemia,MCV and RBC osmotic fragility test with Hb electrophoresis can greatly improve the specificity.However,these methods for α thalassemia,especially the light and static nature of α-thalassemia,have a high rate of missed diagnosis.