红细胞平均体积联合葡萄糖-6-磷酸脱氢酶活性测定在地中海贫血初筛中的价值研究

目的探讨红细胞参数中红细胞平均体积(MCV)与葡萄糖-6-磷酸脱氢酶(G6PD)活性测定在地中海贫血(地贫)初筛实验中的联合应用价值。方法采用聚合酶链式反应及反向点杂交技术对229例孕妇的血标本进行基因检测(地贫组163例,对照组66例),采用速率法检测G6PD活性,采用鞘流电阻抗法检测MCV,将单项、两项并联和串联结果与基因诊断(金标准)的地贫结果比较,并进行统计分析。结果 MCV、G6PD、两项并联和两项串联诊断地贫的灵敏度分别为99.4%、37.4%、99.4%和37.4%,特异度分别为47.0%、93.9%、43.9%和97.0%。结论在地贫的初筛试验中,MCV与G6PD活性并联的价值与MCV单项相近。但两项串联应用,可提高诊断地贫的特异度。

Study on Value of Joint Detection of MCV and G6PD Activity in Thalassemia Screening

Objective To explore the application value of joint detection of MCV and G6PD activity in thalassemia screening.Methods Two hundred and twenty-nine blood samples of pregnant women were detected by PCR and reverse dot-blotting,which were divided into two groups,thalassemia′s group:163 cases of thalassemia,normal control group:66 cases.Meanwhile,G6PD activity and MCV of them were detected by applying rate method and impedance method.Compared single,series connection and parallel connection results of MCV and G6PD activity with thalassemia gene diagnostic(as golden standard),then analyzed them statistically.Results The sensitivity of MCV,G6PD,parallel connection and series connection of MCV and G6PD were 99.4%,37.4%,99.4% and 37.4%.Their specificity were 47.0%,93.9%,43.9% and 97.0%.Conclusion The value of parallel detection of MCV and G6PD activity in thalassemia screening is similar to that of MCV,but the serial connection test of them can improve the specificity of thalassemia diagnostic.