title: Clinical and hematological features of codon 17, A-T mutation of beta-thalassemia in Thai patients.
abstract: Forty-one patients with codon 17, A-T mutation of beta-thalassemia, which is commonly found in Thailand, were studied to determine whether it is possible to predict phenotypic severity from genetic factors. The clinical phenotype of homozygotes for codon 17, A-T and compound heterozygotes for codon 17, A-T and beta+-thalassemia may be used to predict a severe phenotype with TM. However, the clinical phenotype of compound heterozygotes for codon 17, A-T and beta+-thalassemia or Hb E were variable and could not be accurately predicted. The association of alpha-thalassemia2 and milder disease was and was not evident in patients with codon 17, A-T and Hb E. The association between Hb CS gene or the presence of XmnI-Ggamma polymorphism and a mild clinical phenotype is not apparent, indicating the involvement of other ameliorating determinants or genetic modifications.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkla, Thailand.
authors.forename: V
authors.initials: V
authors.lastname: Laosombat
authors.forename: M
authors.initials: M
authors.lastname: Wongchanchailert
authors.forename: B
authors.initials: B
authors.lastname: Sattayasevana
authors.forename: A
authors.initials: A
authors.lastname: Wiriyasateinkul
authors.forename: S
authors.initials: S
authors.lastname: Fucharoen
mesh_terms: D017668:Age of Onset; D003062:Codon; D003937:Diagnosis, Differential; D005838:Genotype; D006446:Hemoglobin E; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D017354:Point Mutation; D011110:Polymorphism, Genetic / Q000235:genetics; D013785:Thailand / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*
chemical_list: D003062:Codon; D006446:Hemoglobin E