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Clinical and hematological features of codon 17, A-T mutation of β-thalassemia in Thai patients

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Abstract: Forty-one patients with codon 17, A-T mutation of β-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 β+-thalassemia may be used to predict a severe phenotype with TM. However, the clinical phenotype of compound heterozygotes for codon 17, A-T and β+-thalassemia or Hb E were variable and could not be accurately predicted. The association of α-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-Gγ polymorphism and a mild clinical phenotype is not apparent, indicating the involvement of other ameliorating determinants or genetic modifications.
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Keywords: A-T mutation; codon 17; genotype; phenotype; β°-thalassemia

Document Type: Research Article

Affiliations: 1: Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkla, Thailand, and 2: Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand

Publication date: February 1, 2001

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