Spectrum of gene deletion in 471 children with α-thalassemia
LIN Ye-Hui, FAN Lian, ZHANG Zhang, PAN Zhi-Wei, SONG Chun-Lin
Department of Pediatrics, Foshan Women and Children's Hospital, Southern Medical University, Foshan, Guangdong 528000, China. fsfyfl@21cn.com
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/аа (73.2%), аа/-а3.7 (12.5%) and --SEA/-а3.7 (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.
Key words ：
Thalassemia
Gene analysis
Child
Cite this article:
LIN Ye-Hui,FAN Lian,ZHANG Zhang et al. Spectrum of gene deletion in 471 children with α-thalassemia[J]. 中国当代儿科杂志, 2012, 14(4): 264-266.
LIN Ye-Hui,FAN Lian,ZHANG Zhang et al. Spectrum of gene deletion in 471 children with α-thalassemia[J]. CJCP, 2012, 14(4): 264-266.
URL:
http://www.zgddek.com/EN/ OR http://www.zgddek.com/EN/Y2012/V14/I4/264
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