Three New β-Thalassemia Mutations with Varying Degrees of Severity Academic Article uri icon

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abstract

  • We report the identification of three, new beta-thalassemia (beta-thal) mutations with varying degrees of severity. The most severe mutation, a frameshift mutation in exon 3 of the beta-globin gene [codon 120 (-A)], was associated with a dominant beta-thal phenotype. A second frameshift mutation, codon 50 (-T), resulted in a phenotype of typical high Hb A(2) beta-thal trait. The mildest mutation was IVS-II-2 (T > C), which changes the splice donor sequence of IVS-II from GT to GC. This transition mutation resulted in a slight reduction in beta-globin gene expression and could be considered a mild beta(+)-thal allele.

authors

  • Frischknecht, Hannes
  • Dutly, Fabrizio
  • Walker, Lynda
  • Nakamura-Garrett, Lisa M
  • Eng, Barry
  • Waye, John

publication date

  • January 2009