Three new beta-thalassemia mutations with varying degrees of severity

Hemoglobin. 2009;33(3):220-5. doi: 10.1080/03630260903089060.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • RNA Splice Sites / genetics
  • Severity of Illness Index
  • beta-Globins / genetics*
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / pathology

Substances

  • RNA Splice Sites
  • beta-Globins