[Spectrum of gene deletion in 471 children with α-thalassemia].
Zhongguo Dang Dai Er Ke Za Zhi
; 14(4): 264-6, 2012 Apr.
Article
em Zh
| MEDLINE
| ID: mdl-22537953
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.
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Base de dados:
MEDLINE
Assunto principal:
Deleção de Genes
/
Talassemia alfa
Idioma:
Zh
Ano de publicação:
2012
Tipo de documento:
Article