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
龙芳 1张云 2陈新敏 3谢成彬 1刘宗能 1秦胜芳 1伍媚 1李婷4
作者信息
- 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
- 折叠
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-α3.7/αα、--SEA/αα、-α4.2/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0～28d组,MCH的敏感度(86.84%)和MCV的特异度(83.98%)最高,在 29d～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.
Abstract
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 thalasse-mia,523 cases were positive in gene diagnosis(detection rate was57.28%),mainly α thalassemiawith323 cases,β thalassemia with 195 cases,and α thalassemia combined with β thalassemia with 5 cases.6 gene mutation types were detected in α thalasse-mia,including-α3.7/αα,--SEA/αα and-α4.2/αα.11 gene mutation types were detected in β thalassemia,CD17(A→T)/β,IVS-II-654(C→T)/β and CD41-42(-TCTT)/β were the main types,and β thalassemia was the main type in thalassemia chil-dren aged 6 months to18 years(constituent ratio:54.39%).When screening children with thalassemia with hemoglobin electro-phoresis combined with red blood cell-related parameters,results showed that the sensitivity of MCH(86.84%)and the specifici-ty of MCV(83.98%)were the highest in0～28 days group,while the sensitivity of MCV(76.67%)and the specificity of MCH(77.78%)were the highest in29 d～6 m group,and in6 months～18years group,the highest sensitivity of MCHC was65.70%and the spe-cificity of MCV was68.89%.The sensitivity of the three parallel combinations and the specificity of three series combinations in all groups were higher than that of one Conclusion The incidence of thalassemia gene mutation in children in Chengdu is high.Hemoglo-bin 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Key words
children/thalassemia/hemoglobin electrophoresis引用本文复制引用
基金项目
院内科技创新基金(2024)(20240326)
出版年
2024
国家科技期刊平台
NSTL
万方数据