临床医学工程Issue(4)：520-522,3.DOI:10.3969/j.issn.1674-4659.2015.04.0520
河源地区小儿地中海贫血的筛查及基因分析
Screening and Gene Analysis of Children with Thalassemia in Heyuan
胡莉莉 1余连芝1
作者信息
- 1. 广东省河源市人民医院儿科，广东河4519300
- 折叠
摘要
Abstract
Objective To analyze the genetic screening results of children with thalassemia in Heyuan, to investigate the incidence of thalassemia in children, and to study the common gene distribution of thalassemia. Methods 1 274 children with confirmed anemia were conducted with genetic screening of thalassemia. Patients with positive screening were conducted with PCR technology and reverse dot blot technique to make a genetic diagnosis ofα-thalassemia gene andβ-thalassemia gene. Results Of 1 274 anemia children, the positive rate was 29.9%, with thalassemia in 381 cases. And theα-thalassemia was 267 cases (70.1%),β-thalassemia was 110 cases (28.8%), complex thalassemia was 4 cases (1.1%). 246 cases ofα-thalassemia deletion including 158 cases of Southeast Asia deletion (-αSEA), 49 cases of right deletion (-α3.7), 37 cases of left deletion (-α4.2) and 2 cases of-THAI. 21 cases ofα-thalassemia non-deletion including 10 cases ofαCSα, 8 cases ofαQSαand 3 cases ofαWSα. 110 cases ofβ-thalassemia including 7 cases (6.4%) of severeβ-thalassemia, 16 cases (14.5%) of middleβ-thalassemia and 87 cases (79.1%) of light β-thalassemia. Conclusions Thalassemia is one of the main reasons of pediatric anemia in Heyuan, and the most common variety of children with thalassemia areα-thalassemia andβ-thalassemia. Southeast Asia deletion is the main type ofα-thalassemia and light mutation is the main type ofβ-thalassemia.关键词
小儿/地中海贫血/筛查/基因分析Key words
Children/Thalassemia/Screening/Gene analysis分类
医药卫生引用本文复制引用
胡莉莉,余连芝..河源地区小儿地中海贫血的筛查及基因分析[J].临床医学工程,2015,(4):520-522,3.
