脐带血红细胞MCV和MCH筛查新生儿地中海贫血的可行性研究  

The Feasible Study of MCV,MCH in Screening Thalassemia from Neonatal Cord Blood Erythrocyte

作　　者：李翔[1] 尹爱华[1] 江静波[1] 杨杰[1] 聂川[1] 王俊平[1] 梁志江[1] 张小庄[1] 

机构地区：[1]广州医科大学附属广东省妇儿医院,中国广东广州511400

出　　处：《生命科学研究》2014年第3期241-245,264,共6页Life Science Research

基　　金：广东省地贫防控项目经费资助(C2012010)

摘　　要：探讨脐带血MCV(红细胞平均体积)和MCH(红细胞平均血红蛋白含量)筛查新生儿地中海贫血的可行性,确定MCV和MCH最佳临界值。采集来自广东省21个不同地区13 396例新生儿脐带血样本。应用标准全自动血细胞分析仪对新生儿脐带血进行全血细胞分析,采用液相芯片技术对脐带血进行基因验证。应用统计学方法计算出灵敏度和特异度,使用ROC曲线(受试者特征工作曲线)确定MCV、MCH的最佳截断值。结果发现携带地中海贫血基因的脐带血中MCV、MCH值下降,它们可以作为新生儿地中海贫血的筛查指标。α-地中海贫血、β-地中海贫血,以及αβ-复合型地中海贫血的截断值分别为104 fl/34 pg;110 fl/36 pg;104 fl/33pg。根据我们的结果,MCV和MCH有较高的灵敏度和特异度。同时,应用MCV、MCH两项指标筛查不同类型的地贫患儿时,诊断符合率较高。此外,MCV、MCH的ROC曲线下面积较大,特异度和灵敏度高,筛查效果好。可以得出的结论:广东省新生儿地中海贫血发病率高,MCV和MCH应用于新生儿地中海贫血的早期诊断具有重要价值。To evaluate the feasibility of MCV, MCH in screening neonatal thalassemia and to determine the optimal cutoff values. 13 396 neonatal samples from 21 different regions of Guangdong Province were collected. Standard automated hematological analyzer was used for the analysis of whole blood cell in cord blood. Thalassemia liquid chip was adopted for gene validation. The sensitivity and specificity were calculated by statistical methods, and the ROC curve was used to calculate the optimal cutoff value of MCV, MCH. Results showed： the values of MCV and MCH decreased in those who carry thalassemia genes,they can be used for index to screen neonatal thalassemia,the cutoff value for α-thalassemia, β-thalassemia, and aft thalassemia were 104 fl / 34 pg; 110 fl/36 pg; 104 fl / 33 pg respectively. Based on our results, MCV and MCH had high sensitivity and specificity. Meanwhile, the diagnosis was also consistent when applied in different type of thalassemia patients. Furthermore, MCV and MCH had large area under the ROC curve analysis indicate their high specificity and sensitivity in the screening effect. It could be concluded that there is a high incidence of neonatal thalassemia in Guangdong Province. MCV and MCH have important value for early diagnosis of neonatal thalassemia.

关 键 词：红细胞平均体积(MCV) 红细胞平均血红蛋白含量(MCH) 最近截断值 新生儿地中海贫血 

分 类 号：R722.11[医药卫生—儿科]