摘要
目的:探讨广西梧州地区儿童常见的四种α、β-地中海贫血(地贫)基因型分布及其血液学指标筛查的应用价值。方法:选取2017年4月—2024年8月医院经基因确诊的371例地贫患儿和63例健康儿童为研究对象。分析儿童常见的四种基因型分布,比较不同基因型患儿的血常规血红蛋白(Hb)、平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)等指标,并采用受试者工作特征(ROC)曲线分析法评估各指标的鉴别诊断效能。结果:本地区儿童α-地贫以--^(SEA)/αα、-α^(3.7)/αα、--^(SEA)/-α^(3.7)和--^(SEA)/-α^(4.2)最为常见,β-地贫以β^(CD41-42)/β^(N)、β^(IVS-Ⅱ-654)/β^(N)、β^(-28)/β^(N)和β^(CD17)/β^(N)最为常见;相较于正常对照组,除-α^(3.7)/αα和β^(-28)/β^(N)的Hb水平外,各组其他血液学指标差异有统计学意义(P<0.05)。ROC曲线分析显示:MCV截断值为80.2 fL、MCH截断值为26.1 pg时,能有效区分正常组和-α^(3.7)/αα组。-α^(3.7)/αα基因型患儿的MCV为67.6~80.2 fL、MCH为21.7~26.1 pg。--^(SEA)/αα基因型者的MCV为57.1~67.6 fL、MCH为17.1~21.7 pg。当MCV<57.1 fL、MCH<17.1 pg且红细胞体积分布宽度-CV值(RDW-CV)>19.4%时,鉴别诊断缺失3个α基因的效能最佳。此外,MCV和MCH诊断β^(-28)/β^(N)最佳截断值分别为70.5 fL和22.6 pg;β^(0)/β^(N)(β^(CD41-42)/β^(N),β^(IVS-Ⅱ-654)/β^(N),β^(CD17)/β^(N))患儿的MCV为61.5~70.5 fL、MCH为19.3~22.6 pg。结论:梧州地区儿童α和β-地贫基因型以--^(SEA)/αα、β^(CD41-42)/β^(N)和β^(IVS-Ⅱ-654)/β^(N)最常见,MCV和MCH对儿童常见四种不同基因型α-地贫的鉴别诊断价值均较高,能初步鉴别β^(+)/β^(N)和β^(0)/β^(N)两种基因型β-地贫。
Objective To investigate the distribution of four common α-/β-thalassemia genotypes and the application value of hematological index screening in children in Wuzhou area of Guangxi Zhuang Autonomous Region.Methods From April 2017 to August 2024,371 children with thalassemia and 63 healthy children with genetic diagnosis in our hospital were selected as the study objects.The distribution of four common genotypes in children was analyzed,the blood routine indexes of children with different genotypes were compared,and the differential diagnostic efficacy of each index was evaluated by ROC curve analysis.Results In this region,the most common types of α-thalassemia in children were--^(SEA)/αα,-α^(3.7)/αα,--^(SEA)/-α^(3.7) and--^(SEA)/-α^(4.2),β-thalassemia was most common in four types:β^(CD41-42)/β^(N),β^(IVS-Ⅱ-654)/β^(N),β^(-28)/β^(N) and β^(CD17)/β^(N);Compared with the normal control group,except for Hb levels of -α^(3.7)/αα and β^(-28)/β^(N),other hematological indexes showed statistical differences among all groups(P<0.05).ROC curve analysis showed that the cut-off value of MCV was 80.2 fL and MCH was 26.1 pg,which could better distinguish the normal group from the -α^(3.7)/αα group.In children with-α^(3.7)/αα genotypes,MCV ranged from 67.6 to 80.2 fL and MCH ranged from 21.7 to 26.1 pg.--^(SEA)/αα genotypes had MCV between 57.1 and 67.6 fL and MCH between 17.1 and 21.7 pg.When MCV was less than 57.1 fL,MCH was less than 17.1 pg,and RDW-CV was more than 19.4%,the differential diagnosis of missing 3α genes was the best.In addition,the results of ROC curve analysis also showed that the optimal cut-off values of MCV and MCH for diagnosing β^(-28)/βN were 70.5 fL and 22.6 pg;children with β^(0)/β^(N)(β^(CD41-42)/β^(N),β^(IVS-Ⅱ-654)/β^(N),β^(CD17)/β^(N))had MCV between 61.5-70.5 fL and MCH between 19.3-22.6 pg.Conclusion In Wuzhou area,the most common genotypes of α and β thalassemia in children were--^(SEA)/αα,β^(CD41-42)/β^(N) and β^(IVS-Ⅱ-654)/β^(N);MCV and MCH were of high value in the differential diagnosis of four common genotypes of α-thalassemia in children,and can initially identify β^(+)/β^(N) and β^(0)/β^(N) genotypes of β-thalassemia.
作者
韦松晓
梁伟
覃湘茹
黎凤元
麦莹莹
陈俊
WEI Songxiao;LIANG Wei;QIN Xiangru;LI Fengyuan;MAI Yingying;CHEN Jun(Department of Clinical Laboratorial Examination,Wuzhou Red Cross Hospital,Wuzhou,Guangxi Zhuang Autonomous Region,543000,China)
出处
《临床血液学杂志》
2025年第12期992-997,共6页
Journal of Clinical Hematology
