采用ROC曲线评价血液学指标对单基因缺失型珠蛋白生成障碍性贫血的诊断价值  

ROC Curve in the Evaluation of Hematology Parameters for Diagnosis of Single-gene Deletion α-thalassemia

作　　者：喻晶[1] 何柏林[1] 卢丽华[1] 吴夏枫[1] 张银汉[1] 

机构地区：[1]北京大学深圳医院检验科,广东深圳518036

出　　处：《现代检验医学杂志》2014年第2期48-51,共4页Journal of Modern Laboratory Medicine

摘　　要：目的 采用ROC曲线探讨血液学指标对单基因缺失型珠蛋白生成障碍性贫血（俗称地中海贫血,简称地贫）的诊断价值,确定平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）、平均红细胞血红蛋白浓度（MCHC）、红细胞计数（RBC）及血红蛋白（Hb）筛查单基因缺失型珠蛋白生成障碍性贫血的最佳截断值（cutoff值）.方法 对基因确诊的124例单基因缺失型珠蛋白生成障碍性贫血患者（实验组）和126例健康体检者（对照组）进行血常规检查,采用ROC曲线分析血液学指标MCV,MCH,MCHC,RBC和Hb,评价其筛查单基因缺失型珠蛋白生成障碍性贫血临床诊断价值.结果 ①对照组与实验组的血液学指标MCH,MCV,MCHC,Hb和RBC分别为（29.9±1.18 vs 26.1±3.01）pg,（88.8±3.38 vs80.2±7.13）fl,（337±10.06 vs 321±18.4）g/L,（133±10.8 vs 123±20.6）g/L和（4.48±0.39 vs4.75±0.61）x10^12/L.与对照组比较,实验组血液学指标MCV,MCH,MCHC和Hb均明显降低,RBC明显增高,差异具有统计学意义（t=-12.09,-13.13,-8.23,-5.09和4.11,P值均＜0.01）.②以基因诊断的结果为金标准,MCH,MCV,MCHC,Hb和RBC的ROC曲线下面积（AUC）分别为0.941,0.894,0.799,0.688,0.630;最佳cutoff值分别为28.35 pg,84.75 fl,329.5g/L,125.5 g/L,4.17×10^12/L;对应的灵敏度和特异度,分别是MCH（88.7％,90.5％）,MCV（77.4％,89.7％）,MCHC（69.5％,77.0％）,Hb（61.3％,78.6％）,RBC（51.6％,75.4％）.③在AUC＞0.75的三项指标中,MCH的诊断灵敏度最高,明显高于MCV和MCHC（P＜0.05,卡方值5.62,14.02）,MCH和MCV的特异度明显高于MCHC（P＜0.05,卡方值8.42,7.31）,差异具有统计学意义.结论 用ROC曲线分析的结果表明MCV,MCH,MCHC对单基因缺失型珠蛋白生成障碍性贫血有较好的诊断价值（AUC＞0.75）,其中MCH的诊断价值最高（AUC＞0.9）,以MCV,MCH和MCHC的最佳cutoff值作为单基因缺失型珠蛋白生成障碍性贫血筛查指标具有较好的临床诊断�Objective To explore the optimal cutoff value of the mean corpuscular volume （MCV）,mean corpuscular hemoglobin （MCH）,mean corpuscular hemoglobin concentration （MCHC）,red blood cell count （RBC） and hemoglobin （Hb） by ROC curve for screening single-gene deletion-thalassemia （-Thai）. Methods The complete blood count test was conducted in 126 healthy volunteers （control group） and 124 patients of single-gene deletion -Thal （experimental group） , which con firmed by genetic diagnosis. The values of MCV,MCH, MCHC,RBC and Hb in the screening of single-gene deletion Thal were evaluated by ROC curve. Results Compared with control group,Taking the results of genetic diagnosis as gold standard,the area under ROC curve （AUC） of MCH, MCV, MCHC, Hb and RBC were 0. 941,0. 894,0. 799,0. 688 and 0. 630 respectively. The optimal cutoff values were 28.35 pg,84.75 fl,329.5 g/L,125.5 g/L and 4. 17×10^12/L respectively. The sensitivity and speci ficitywere 88.7% and 90.5% for MCH,77.4% and 89.7% for MCV,69.5% and 77.0% for MCHC,61.3% and 78.6%o for Hb,51.6% and 75.4% for RBC. The AUC of MCH,MCV and MCHC were greater than 0.75. The sensitivity of MCH was significantly higher than that of MCV and MCHC （P〈0.05）. The specificity of MCH and MCV was dramatically greater than that of MCHC （P〈0.05）. Conclusion The hematology parameters of MCV,MCH and MCHC were goodcandidates in the screening of single-gene deletion-thalassemia by ROC curve （AUC〉0.75）, and the diagnostic value of MCH was the highest （AUC〉0.9）. The optimal cutoff values of MCH,MCV and MCHC for screening of single-gene deletion a-Thal had good diagnostic application. The better understanding of the hematology characteristics of single-gene deletion a-Thai may help to increase the accuracy of screening out the single-gene deletion a-Thal patients,and reduce the missed diagnosis.

关 键 词：ROC曲线 单基因缺失型珠蛋白生成障碍性贫血 平均红细胞体积 平均血红蛋白含量 平均红细胞血红蛋白浓度 红细胞 血红蛋白 

分 类 号：R556.61[医药卫生—血液循环系统疾病]