中国当代儿科杂志2011，Vol.13Issue(2)：104-106,3.
昆明地区儿童地中海贫血筛查和基因诊断分析
Biochemical screening and genetic diagnosis of thalassemia in children from Kunming
温柏平 1樊茂 1代宏剑 1庄宇 1刘红林 1杨俊逸 1杨晓红 1邓文国2
作者信息
- 1. 昆明市儿童医院检验科,云南,昆明,650034
- 2. 广州达安临床检验中心,广东,广州,510080
- 折叠
摘要
Abstract
Objective To investigate the types and frequency of gene mutations in children with thalassemia in Kunming, Yunan Province. Methods A biochemical screening for thalassemia was performed by testing RBC fragility,MCV and hemoglobin electrophoresis on 1338 children from Kunming, Yunnan Province. Genetic diagnosis was performed on the children with α-thalassemia by gap-PCR and on the children with β-thalassemia by PCR-RDB. Results The positive rate of the biochemical screening for thalassemia was 11.36％ ( 152 cases). The positive rate of genetic diagnosis was 8.59％ (l15 cases). Of the ll5 cases, α-thalassemia was found in 43 cases, β-thalassemia in 68 cases and α-combined-β thalassemia in 4 cases. --SEA/αα accounted for 47％ ,-α4.2/αα accounted for 21％, and HbH disease accounted for 14％. Six genotypes were found in 68 cases of β-thalassemia and the mutation frequency of βE was the highest (32％), followed by CD41-42 (24％), CD17 (23％), IVS-II654 ( 10％ ), CD71-72 ( 10％ ), and -28 ( 1％ ).Conclusions The frequency of gene mutations for thalassemia is high in children from Kunming, Yunnan Province.Premarital and prenatal screenings and genetic diagnosis for thalassemia should be carried out in this area.关键词
地中海贫血/生化筛查/基因诊断/儿童分类
医药卫生引用本文复制引用
温柏平,樊茂,代宏剑,庄宇,刘红林,杨俊逸,杨晓红,邓文国..昆明地区儿童地中海贫血筛查和基因诊断分析[J].中国当代儿科杂志,2011,13(2):104-106,3.
