四川医学2024，Vol.45Issue(5)：512-516,5.DOI:10.16252/j.cnki.issn1004-0501-2024.05.011
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
摘要
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分类
医药卫生引用本文复制引用
龙芳,张云,陈新敏,谢成彬,刘宗能,秦胜芳,伍媚,李婷..成都地区913例0～18岁儿童地中海贫血的筛查及基因分析[J].四川医学,2024,45(5):512-516,5.基金项目
2024年院内科技创新基金项目(编号:20240326) （编号:20240326）
