文章摘要

血常规参数在地中海贫血基因携带患儿筛查中的价值

作者: 1曾沛斌, 2张振洪, 1黎贺年
1 广东医科大学附属东莞儿童医院儿科重症监护室,广东 东莞 523000
2 广东医科大学附属东莞儿童医院血液科,广东 东莞 523000
通讯: 张振洪 Email: 228648606@qq.com
DOI: 10.3978/j.issn.2095-6959.2022.08.014

摘要

目的:分析血常规参数在地中海贫血(以下简称“地贫”)基因携带患儿筛查中的价值。方法:选取2019年1月至2020年1月在广东医科大学附属东莞儿童医院就诊的358名儿童作为研究对象,对地贫基因情况进行检测,根据是否携带地贫基因将其分为研究组(携带地贫基因,80例)与对照组(未携带地贫基因,278例)。对2组患者的基础资料及血常规指标进行比较。结果:在受检儿童中有80例确诊为携带地贫基因,其中,48例携带α-地贫基因,占60%,以--SEA/αα型为主,占31.25%;30例携带β-地贫基因,占37.5%,以CD41-42(-CTTT)突变为主,占15%;2例同时携带α-地贫基因和β-地贫基因,占2.5%。研究组儿童的红细胞计数(red blood cell count,RBC)、血小板计数(platelet count,PLT)、血小板分布宽度(platelet distribution width,PDW)水平高于对照组,血红蛋白(hemoglobin,HGB)、平均红细胞体积(mean corpuscular volume,MCV)、平均红细胞血红蛋白含量(mean erythrocyte hemoglobin content,MCH)、平均红细胞血红蛋白浓度(mean corpuscular hemoglobin concentration,MCHC)低于对照组,差异均有统计学意义(均P<0.05)。受试者工作特征(receiver operating characteristic,ROC)曲线分析结果显示:RBC、PLT、PDW、HGB、MCV、MCH、MCHC在地贫基因携带患儿筛查中的ROC曲线下面积(areas under ROC curve,AUCROC)均有统计学意义(均P<0.05),其中,MCV的AUCROC最高,其次为MCH,在最佳筛查界值(Cutoff值)下,MCV的灵敏度最高,HGB的特异度最高。结论:携带地贫基因患儿表现为多项血常规指标的异常,其中,MCV、MCH等指标具有较高的辅助诊断价值,在人群筛查中应综合分析受检儿童的血常规指标,从而提高筛查效率。
关键词: 血常规;地中海贫血;基因;儿童;筛查

Values of blood routine parameters in screening children with thalassemia gene carrier

Authors: 1ZENG Peibin, 2ZHANG Zhenhong, 1LI Henian
1 Pediatric Intensive Care Unit, Dongguan Children’s Hospital Affiliated to Guangdong Medical University, Dongguan Guangdong 523000, China
2 Department of Hematology, Dongguan Children’s Hospital Affiliated to Guangdong Medical University, Dongguan Guangdong 523000, China

CorrespondingAuthor: ZHANG Zhenhong Email: 228648606@qq.com

DOI: 10.3978/j.issn.2095-6959.2022.08.014

Abstract

Objective: To analyze the values of blood routine parameters in screening children with thalassemia (hereinafter referred to as “thalassemia”) gene carrier. Methods: Three hundred and fifty-eight children in Dongguan Children’s Hospital Affiliated to Guangdong Medical University from January 2019 to January 2020 were selected as research subjects, and their thalassemia gene was detected. According to whether they carried thalassemia gene, they were divided into a study group (80 cases with thalassemia gene) and a control group (278 cases without thalassemia gene). The basic data and the blood routine indexes between the children in the 2 groups were compared. Results: Among the tested children, 80 cases were diagnosed as carrying thalassemia gene, of which 48 cases carried α-thalassemia gene, accounting for 60%; most of them was --SEA/αα type, accounting for 31.25%. Thirty cases carried β-thalassemia gene, accounting for 37.5%; most of them was CD41-42(-CTTT) mutation, accounting for 15%. Two cases carried α-thalassemia gene and β-thalassemia gene at the same time, accounting for 2.5%. The levels of red blood cell count (RBC), platelet count (PLT), and platelet distribution width (PDW) of the children in the study group were higher than those in the control group, and the levels of hemoglobin (HGB), mean corpuscular volume (MCV), mean corpuscular hemoglobin content (MCH), and mean corpuscular hemoglobin concentration (MCHC) of the children in the study group were lower than those in the control group (all P<0.05). The results of receiver operating characteristic (ROC) curve analysis showed that the areas under ROC curve (AUCROC) of RBC, PLT, PDW, HGB, MCV, MCH, and MCHC in the screening of children with thalassemia gene was statistically significant (all P<0.05). Among them, the AUCROC of MCV was the highest, followed by MCH. Under the cutoff value, the sensitivity of MCV was the highest and the specificity of HGB was the highest. Conclusion: Children with thalassemia gene show abnormalities in a number of blood routine indexes. Among them, MCV, MCH have higher auxiliary diagnostic values. In population screening, we should comprehensively analyze the blood routine indexes of children, so as to improve the screening efficiency.

Keywords: blood routine; thalassemia; genes; children; screening

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