新生儿脐带血红细胞指标在新生儿地中海贫血筛查中的价值

目的:探讨新生儿脐带血红细胞指标与地中海贫血的相关性,揭示其在新生儿地中海贫血筛查中的临床价值。方法:收集2017年7月至2018年12月在南方医科大学附属中山市博爱医院出生的2919例新生儿脐带血,进行血常规检测,另采集外周血检测地中海贫血基因,确定各指标中的cut-off值,并计算灵敏度、特异度等评价指标。结果:2919例新生儿脐带血共检出地中海贫血314例,阳性检出率为10.76%。2605例非地中海贫血患儿的RBC、RDW的平均水平低于314例地中海贫血患儿;非地中海贫血患儿的Hb、MCV、MCH、MCHC、HCT、Hb/RBC、MCV/RBC水平高于地中海贫血患儿,两组间各指标的比较均有显著性差异。其中α地中海贫血组的RBC和RDW水平高于非地中海贫血组,而Hb、MCV、MCH、MCHC、HCT、Hb/RBC和MCV/RBC水平均低于非地中海贫血组;β地中海贫血组的MCV、MCH、Hb/RBC水平均低于非地中海贫血组;α,β复合地中海贫血组的MCV、MCH、Hb/RBC和MCV/RBC水平均低于非地中海贫血组。MCV的cut-off值设为106.05fl时,灵敏度为0.548,特异度为0.907,特异度在各指标中最高。MCH+MCV/RBC联合诊断的ROC曲线下面积最大,为0.807,其中灵敏度为0.710,特异度为0.841,阳性预测值为0.348,阴性预测值为0.960。结论:单一脐带血红细胞指标对于地中海贫血的筛查各有优缺点,而联合MCH+MCV/RBC可以提高其对地中海贫血筛查或诊断的准确性,对于降低重型地中海贫血患儿的出生率有积极的作用,在基层医院具有很高的普及价值。

The Value of Umbilical Cord Blood Erythrocyte Index in the Screening of Neonatal Thalassemia

Objective:To investigate the relationship between umbilical cord blood erythrocyte index and thalassemia,and reveal its clinical value in the screening of thalassemia in neonates.Methods:2 919 cases of umbilical cord blood from neonatal who were born in Boai Hospital of Zhongshan Affiliated with Southern Medical University from July2017 to December 2018 were collected,the routine blood tests were preformed to detect the umbilical cord blood.Thalassemia gene in peripheral blood of neonates was collected.The cut-off values of cord blood indexes were determined,and the sensitivity,specificity and other evaluation indexs were calculated.Results:Among the cord blood in 2 919 neonates,314 cases were detected out as thalassemia(positive rate:10.76%).The average level of RBC and RDW in 2 605 children with non-thalassemia was lower than those with 314 children with thalassemia.The levels of Hb,MCV,MCH,MCHC,HCT,Hb/RBC and MCV/RBC in children with non-thalassemia were higher than those with thalassemia,and there were significant differences in the neonates between the two groups.The RBC and RDW levels of neonates in the α-thalassemia group were higher than those in the non-thalassemia group,while the levels of Hb,MCV,MCH,MCHC,HCT,Hb/RBC and MCV/RBC of neonates were lower than those in the non-thalassemia group.The levels of MCV,MCH and Hb/RBC of neonates in the β-thalassaemia group were lower than those in the nonthalassaemia group.The levels of MCV,MCH,Hb/RBC,and MCV/RBC of neonates in the complex thalassemia group were lower than those in the non-thalassemia group.When the cut-off value of MCV was set to 106.05 fl,the sensitivity was 0.548,and the specificity was 0.907,the specificity was the highest among all indexes.The area under the ROC curve of the combined diagnosis of MCH+MCV/RBC was the largest(0.807),the sensitivity was 0.710,the specificity was 0.841,the positive predictive value was 0.348,and the negative predictive value was 0.960.Conclusion:The single indicator of umbilical cord blood red blood cells has advantages and disadvantages for the screening of thalassemia,but the combination of MCH+MCV/RBC can improve the accuracy of the screening or diagnosis of thalassemia,it also has a positive effect to the reduction of the birth rate of children with thalassemia major,which showed a high popularization value in primary hospitals.