Zhuang Chou-Ju, Wu Xue-Wei, Wan Zhi-Dan, Huang Xiang
Department of Clinical Laboratory Examination, Boai Hospital of Zhongshan Affiliated with Southern Medical University, Zhongshan 528400, Guangdong Province, China.
Prenatal Diagnosis Center, Boai Hospital of Zhongshan Affiliated with Southern Medical University, Zhongshan 528400, Guangdong Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Feb;29(1):193-197. doi: 10.19746/j.cnki.issn.1009-2137.2021.01.030.
To investigate the relationship between umbilical cord blood erythrocyte index and thalasse-mia, and reveal its clinical value in the screening of thalassemia in neonates.
2 919 cases of umbilical cord blood from neonatal who were born in Boai Hospital of Zhongshan Affiliated with Southern Medical University from July 2017 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.
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 non-thalassaemia 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.
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.
探讨脐血红细胞指数与地中海贫血的关系,揭示其在新生儿地中海贫血筛查中的临床价值。
收集2017年7月至2018年12月在南方医科大学附属中山博爱医院出生的2919例新生儿脐血,进行血常规检测以检测脐血。采集新生儿外周血中的地中海贫血基因。确定脐血指标的截断值,并计算敏感性、特异性等评估指标。
在2919例新生儿的脐血中,检测出314例地中海贫血(阳性率:10.76%)。2605例非地中海贫血儿童的红细胞(RBC)和红细胞分布宽度(RDW)平均水平低于314例地中海贫血儿童。非地中海贫血儿童的血红蛋白(Hb)、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)、血细胞比容(HCT)、Hb/RBC和MCV/RBC水平高于地中海贫血儿童,两组新生儿之间存在显著差异。α地中海贫血组新生儿的RBC和RDW水平高于非地中海贫血组,而新生儿的Hb、MCV、MCH、MCHC、HCT、Hb/RBC和MCV/RBC水平低于非地中海贫血组。β地中海贫血组新生儿的MCV、MCH和Hb/RBC水平低于非地中海贫血组。复合型地中海贫血组新生儿的MCV、MCH、Hb/RBC和MCV/RBC水平低于非地中海贫血组。当将MCV的截断值设定为106.05 fl时,敏感性为0.548,特异性为0.907,在所有指标中特异性最高。MCH + MCV/RBC联合诊断的ROC曲线下面积最大(0.807),敏感性为0.710,特异性为0.841,阳性预测值为0.348,阴性预测值为0.960。
脐血红细胞单一指标在地中海贫血筛查中有优缺点,但MCH + MCV/RBC联合使用可提高地中海贫血筛查或诊断的准确性,对降低重型地中海贫血患儿出生率也有积极作用,在基层医院具有较高的推广价值。