Literature DB >> 22537953

[Spectrum of gene deletion in 471 children with α-thalassemia].

Ye-Hui Lin1, Lian Fan, Zhang Zhang, Zhi-Wei Pan, Chun-Lin Song.   

Abstract

OBJECTIVE: To study the distribution of common α-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 α-thalassemia. The prevalence of α-thalassemia increased with increasing age. --SEA was a major type of α-thalassemia gene deletion (75.3%), followed by -a3.7 (17.0%) and -a4.2 (7.7%) 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 α-thalassemia in the subjects of this study.

Entities:  

Mesh:

Year:  2012        PMID: 22537953

Source DB:  PubMed          Journal:  Zhongguo Dang Dai Er Ke Za Zhi        ISSN: 1008-8830


  1 in total

1.  Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia.

Authors:  Huijuan Ge; Xuan Huang; Xuchao Li; Shengpei Chen; Jing Zheng; Haojun Jiang; Chunlei Zhang; Xiaoyu Pan; Jing Guo; Fang Chen; Ning Chen; Qun Fang; Hui Jiang; Wei Wang
Journal:  PLoS One       Date:  2013-06-28       Impact factor: 3.240

  1 in total

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