中国当代儿科杂志2012，Vol.14Issue(4)：264-266,3.
471例儿童α地中海贫血缺失型基因谱分析
Spectrum of gene deletion in 471 children with α-thalassemia
摘要
Abstract
Objective To study the distribution of common a-thalassemia gene deletion in children. Methods Blood cell analysis was performed on children who visited the clinic of the Foshan Women and Children's Hospital. Blood samples (2 mL, EDTA anticoagulant) was collected from children with MCV <82 fl for analysis of α-thalassemia gene using the GAP-PCR method. Results MCV < 82 fl was found in 1341 children. Of the 1341 children, 471 (35. 1%) were diagnosed with a-thalassemia. The prevalence of α-thalassemia increased with increasing age. —5EA was a major type of a-thalassemia gene deletion (75. 3% ) , followed by -a3.7 (17. 0% ) and -a4. 2 (7.1% ) in the 471 patients. The top three genotypes were--SEA/aa (73.2%), aa/-a3.7 (12. 5% ) and --SEA/-a3.7( 5.5% ). Conclusions Genetic testing is necessary for the diagnosis of α-thalassemia in children with MCV < 82 fl. --SEA is a common type of α-thalassemia gene deletion, and --SEA/aa is a common gene type of a-thalassemia in the subjects of this study.关键词
地中海贫血/基因分析/儿童Key words
Thalassemia/ Gene analysis/ Child分类
医药卫生引用本文复制引用
林业辉,范联,张章,潘志伟,宋春林..471例儿童α地中海贫血缺失型基因谱分析[J].中国当代儿科杂志,2012,14(4):264-266,3.基金项目
佛山市科技局科技攻关课题(No.200808048). （No.200808048）
