title: [Spectrum of gene deletion in 471 children with α-thalassemia].
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.
authors.affiliation: Department of Pediatrics, Southern Medical University, Foshan, Guangdong, China.
authors.forename: Ye-Hui
authors.initials: YH
authors.lastname: Lin
authors.forename: Lian
authors.initials: L
authors.lastname: Fan
authors.forename: Zhang
authors.initials: Z
authors.lastname: Zhang
authors.forename: Zhi-Wei
authors.initials: ZW
authors.lastname: Pan
authors.forename: Chun-Lin
authors.initials: CL
authors.lastname: Song
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004909:Erythrocyte Indices; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017085:alpha-Thalassemia / Q000097:blood / Q000209:etiology / Q000235:genetics*