成都地区913例0~18岁儿童地中海贫血的筛查及基因分析  

Screening and Genetic Analysis of 913 Thalassemia in Children Aged 0~18 Years in Chengdu

作　　者：龙芳 张云 陈新敏 谢成彬 刘宗能 秦胜芳 伍媚 李婷 Long Fang;Zhang Yun;Chen Xinmin(Department of Clinical Laboratory,Department of Medical Genetics and Prenatal Diagnosis,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu,Sichuan 610000;Department of Clinical Laboratory,the District People′s Hospital of Zhangqiu,Jinan,Shandong 250200;Department of Clinical Laboratory,Chengdu Children Special Hospital,Chengdu,Sichuan 610015,China.)

机构地区：[1]四川省妇幼保健院·成都医学院附属妇女儿童医院检验科,医学遗传与产前诊断科,四川成都610000 [2]济南市章丘区人民医院检验科,山东济南250200 [3]成都儿童专科医院检验科,四川成都610015 [4]北京陆道培医院检验科,北京100176

出　　处：《四川医学》2024年第5期512-516,共5页Sichuan Medical Journal

基　　金：2024年院内科技创新基金项目(编号:20240326)。

摘　　要：目的分析成都地区0~18岁儿童地中海贫血的发病率、基因突变类型构成比,评估血红蛋白电泳联合红细胞相关参数在地中海贫血中的筛查价值。方法回顾性分析成都地区913例地中海贫血初筛阳性病例的血液学特征、血红蛋白电泳检测数据及地中海贫血基因检测数据。结果913例地贫初筛阳性的患儿,有523例基因诊断阳性(检出率57.28%),以α地贫为主,α地贫323例,β地贫195例,α复合β地贫5例。α地贫共检出6种基因型,其中以-α^(3.7)/αα、--^(SEA)/αα、-α^(4.2)/αα为主。β地贫患儿共检出11种基因突变类型,以CD17(A→T)/β、IVS-II-654(C→T)/β和CD41-42(-TCTT)/β为主,6个月~18岁地中海贫血患儿以β地贫为主(构成比54.39%)。用血红蛋白电泳联合红细胞相关参数筛查地中海贫血患儿时,在0~28 d组,MCH的敏感度(86.84%)和MCV的特异度(83.98%)最高,在29 d~6个月组,MCV的敏感度(76.67%)和MCH的特异度(77.78%)最高,在6个月~18岁组,MCHC的敏感度(65.70%)和MCV(68.89%)的特异度最高,所有组里三项平行联和的敏感度和三项系列联合的特异度都比单项要高。结论成都地区儿童地中海贫血基因突变发生率较高,血红蛋白电泳和红细胞相关参数能较好的筛查地中海贫血,降低漏诊率。Objective To analyze the incidence of thalassemia and the proportion of gene mutation types in children aged 0~18 years in Chengdu,and to evaluate the screening value of hemoglobin electrophoresis combined with red blood cell related parameters in thalassemia.Methods The hematological characteristics,hemoglobin electrophoresis test data and thalassemia gene test data of 913 cases of thalassemia in Chengdu were analyzed retrospectively.Results Among 913 children with thalassemia,523 cases were positive in gene diagnosis(detection rate was 57.28%),mainlyαthalassemiawith 323 cases,βthalassemia with 195 cases,andαthalassemia combined withβthalassemia with 5 cases.6 gene mutation types were detected inαthalassemia,including-α^(3.7)/αα,--^(SEA)/ααand-α^(4.2)/αα.11 gene mutation types were detected in β thalassemia,CD17(A→T)/β,IVS-II-654(C→T)/βand CD41-42(-TCTT)/βwere the main types,andβthalassemia was the main type in thalassemia children aged 6 months to 18 years(constituent ratio:54.39%).When screening children with thalassemia with hemoglobin electrophoresis combined with red blood cell-related parameters,results showed that the sensitivity of MCH(86.84%)and the specificity of MCV(83.98%)were the highest in 0~28 days group,while the sensitivity of MCV(76.67%)and the specificity of MCH(77.78%)were the highest in 29 d~6 m group,and in 6 months~18years group,the highest sensitivity of MCHC was 65.70%and the specificity of MCV was 68.89%.The sensitivity of the three parallel combinations and the specificity of three series combinations in all groups were higheRthan that of one Conclusion The incidence of thalassemia gene mutation in children in Chengdu is high.Hemoglobin electrophoresis and red blood cell related parameters can screen thalassemia well and reduce the missed diagnosis rate.

关 键 词：儿童 地中海贫血 血红蛋白电泳 

分 类 号：R725.5[医药卫生—儿科]