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Spectrum of gene deletion in 471 children with α-thalassemia / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 264-266, 2012.
Article in Chinese | WPRIM | ID: wpr-320669
ABSTRACT
<p><b>OBJECTIVE</b>To study the distribution of common α-thalassemia gene deletion in children.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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%).</p><p><b>CONCLUSIONS</b>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.</p>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Blood / Gene Deletion / Alpha-Thalassemia / Erythrocyte Indices / Gene Frequency / Genetics Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Infant, Newborn Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2012 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Blood / Gene Deletion / Alpha-Thalassemia / Erythrocyte Indices / Gene Frequency / Genetics Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Infant, Newborn Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2012 Type: Article