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.
［4］Xu XM, Zhou YQ, Luo GX, Liao C, Zhou M, Chen PY, et al. The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening［J］. J Clin Pathol, 2004, 57(5): 517-522.
