血红蛋白定量分析在α-珠蛋白生成障碍性贫血产前诊断中的价值

Value of hemoglobin quantitative analysis in prenatal diagnosis of α-thalassemia

目的探讨胎儿脐血血红蛋白定量分析在α-珠蛋白生成障碍性贫血产前诊断中的价值。方法对2 211例孕中晚期脐血进行血红蛋白和α-珠蛋白基因分析,ROC曲线分析HbBart′s最佳临界值,评价其在α-珠蛋白生成障碍性贫血产前诊断中的价值。结果 HbBart′s诊断重型、中间型、轻型和静止型α-珠蛋白生成障碍性贫血ROC曲线下面积分别为1、1、0.970和0.913,最佳临界值分别为58.30%、21.05%、7.95%和2.75%,灵敏度分别为100.00%、100.00%、95.78%、83.86%;特异性分别为100.00%、100.00%、98.04%和96.61%。结论以ROC曲线分析得到的HbBart′s最佳临界值对重型α-珠蛋白生成障碍性贫血具有较好的诊断价值,无误诊及漏诊。

Objective To evaluate the hematology quantitative analysis in prenatal diagnosis fora thalassemia in cord blood. Methods Hemoglobin and a globin gene anlaysis were carried out among 2 211 cases of the second and third trimester umbilical cord blood. Optimal cutoff values of Hb Bart＇s were analyzed by ROC curve for screening of a-thalassemia. Results The area under ROC curve of Hb Bart＇s for screening of a- thalassemia major,a-thalassemia intermedia,a-thalassemia minor and silent a-thalassemia were 1,1,0. 970 and 0. 913. The optimal cutoff values were 58.30%,21.05%,7. 95% and 2. 75% respectively. The sensitivity of that were 100.00%,100.00%,95.78% and 83.86% ;The specificity of that were 100.00%, 100.00%, 98.04% and 96.61% respectively. Conclusion Optimal cutoff values of Hb Bart＇s are analyzed by ROC curve, which have better diagnostic application for screening of a-thalassemia major. There was no misdiagnosis and missed diagnosis.