红细胞平均体积、脆性以及毛细管血红蛋白电泳联合检测在产前地中海贫血诊断中的价值

Value of the combined tests of mean corpuscular volume,red cell osmotic fragility test and capillary hemoglobin electrophoresis in antenatal screening and diagnosis of thalassemia

目的探讨红细胞平均体积(MCV)、红细胞脆性及毛细管血红蛋白(Hb)电泳联合检测在产前地中海贫血(简称地贫)筛查诊断中的应用价值。方法对在某三级医院进行产前地贫筛查的263名孕妇同时进行MCV、红细胞脆性及毛细管Hb电泳3项血液学指标检测和中国人群常见的地贫基因突变或缺失分子生物学检测。以基因检测结果为参比标准,计算三项血液学指标单项或联合检测结果的灵敏度、特异度、准确度、阳性预测值及阴性预测值。结果 263名进行产前地贫筛查的孕妇中,56名基因检测确诊为地贫,其中α地贫37例,β地贫17例,α合并β地贫2例。MCV、红细胞脆性及毛细管Hb电泳单项检测结果对地贫诊断的灵敏度及特异度分别为82.14%和87.44%,87.50%和93.23%,53.57%和96.13%;MCV与红细胞脆性、MCV与毛细管Hb电泳、红细胞脆性与毛细管Hb电泳二项试验平行联合的灵敏度及特异度分别为96.43%和83.01%,89.29%和85.99%,96.43%和89.86%;系列联合的灵敏度及特异度分别为73.21%和97.58%,46.43%和97.58%,44.64%和99.52%。MCV、红细胞脆性和毛细管Hb电泳三项平行联合的灵敏度及特异度为100.00%和81.64%;系列联合的灵敏度及特异度为41.07%和99.52%。三项平行联合试验的灵敏度、系列联合试验的特异度,与各单项试验比较,差异有统计学意义(P<0.05)。结论在产前地贫筛查、诊断检测中,MCV、红细胞脆性和毛细管Hb电泳三项平行联合试验可提高灵敏度,系列联合试验可增加检测特异度。

Objective To evaluate the value of the combined tests of mean corpuscular volume（MCV）,red cell osmotic fragility（RCOF）test and capillary Hb electrophoresis（Hb-CE）in antenatal screening and diagnosis of thalassemia.Methods 263pregnant women for thalassaemia screening in a tertiary hospital within 3months were performed three hematological clinical tests including MCV test,RCOF test and Hb-CE and molecular biological detection for common known thalassaemia mutations or defects in Chinese.The results of gene detection were used as a reference standard.The sensitivity,specificity,accuracy,positive predictive value and negative predictive value of single or combined results of three hematological tests were calculated.Results Of 263pregnant women for thalassaemia screening,56 were diagnosed as thalassaemia by molecular methods including 37α-thalassaemia,17βthalassaemia and 2α,β-thalassaemia.Compared with the reference molecular method used in the study for thalassemia diagnosis,the sensitivity and specificity of single MCV test were 82.14%and 87.44%,single RCOF test were 87.50%and 93.23%,single HbCE were 53.57%and 96.13%,respectively.The sensitivity and specificity of parallel combined tests of MCV and RCOF,MCV and Hb-CE,RCOF and Hb-CE were 96.43%and 83.01%,89.29% and 85.99%,96.43% and 89.86%,respectively;serial combined tests were 73.21%and 97.58%,46.43%and 97.58%,44.64%and 99.52%,respectively.The sensitivity and specificity of parallel or serial combined tests of MCV and RCOF and Hb-CE were 100.0% and 81.64%,41.07% and 99.52%,respectively.There were significant differences of sensitivity and specificity between single hematological test and the combination of three tests（P＆lt; 0.05）.Conclusion Parallel combined test and serial combined test of MCV,RCOF and Hb-CE can improve the sensitivity and specificity of hematological tests in antenatal thalassemia screening and diagnosis.For hematological antenatal thalassemia diagnosis,comprehensive evaluation of combination tests is superior to single test.