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目的评价Hb电泳、红细胞脆性项目在筛查孕妇产前地中海贫血的价值。方法对4 149位孕妇同时进行Hb蛋白电泳、红细胞脆性测定及PCR法基因诊断,得到其检出率及符合率;并分析单项测定及两项联合测定地中海贫血的灵敏度、特异度等评价指标。结果 Hb电泳、红细胞脆性单项检测对孕妇地中海贫血诊断的灵敏度及特异度分别为59.7%、68.2%及85.4%、65.9%;红细胞脆性、Hb电泳两项联合平行检测的灵敏度和特异度为95.1%、43.2%;系列检测的灵敏度和特异度为59.7%、88.6%。两项平行检测的灵敏度与各单项检测灵敏度之间、联合检测的特异度与各单项检测特异度之间差异均有统计学意义(P<0.05)。结论血红蛋白电泳、红细胞脆性平行联合检测可提高灵敏度,系列检测可提高特异度。此联合检测方法对产前孕妇地中海贫血筛查有较高的应用价值,有效的减少了地中海贫血患儿的出生和新生儿溶血。
Objective To evaluate the value of Hb electrophoresis and erythrocyte fragility in screening prenatal thalassemia in pregnant women. Methods Forty-four pregnant women were subjected to Hb protein electrophoresis, erythrocyte fragility test and gene diagnosis by PCR. The detection rate and coincidence rate were obtained. The sensitivity, specificity and other indexes of single measures and two combined measures of thalassemia were analyzed. Results The sensitivities and specificities of Hb electrophoresis and single erythrocyte fragmentation tests for the diagnosis of thalassemia in pregnant women were 59.7%, 68.2% and 85.4%, 65.9%, respectively. The sensitivity and specificity of the combined detection of erythrocyte fragility and Hb electrophoresis were 95.1% , 43.2%. The sensitivity and specificity of the series tests were 59.7% and 88.6% respectively. The differences between the sensitivity of the two parallel tests and the individual test sensitivities, the specificity of the joint test and the individual test specificities were all statistically significant (P <0.05). Conclusions Hemoglobin electrophoresis and erythrocyte fragility parallel detection can improve the sensitivity, and serial detection can improve the specificity. This combined detection method for prenatal screening of pregnant women has a higher value of thalassemia, effectively reducing the birth of children with thalassemia and neonatal hemolysis.