Clinical and hematological features of codon 17, A-T mutation of beta-thalassemia in Thai patients.
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.
Laosombat
V
V
Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkla, Thailand.
Wongchanchailert
M
M
Sattayasevana
B
B
Wiriyasateinkul
A
A
Fucharoen
S
S
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*
D003062:Codon; D006446:Hemoglobin E