THE Hb S/β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele Academic Article uri icon

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abstract

  • We report a family in which two siblings are compound heterozygotes for Hb S [beta6(A3)GluVal] and a rare beta-globin mutation [IVS-I (-2) (A>C)]. Both patients had significant levels of Hb A, indicating that the IVS-I (-2) mutation is a relatively mild beta(+)-thalassemia (beta(+)-thal) allele. This mutation, in compound heterozygosity with Hb S, does not necessarily lead to a mild clinical course.

authors

  • Schmugge, Markus
  • Waye, John
  • Basran, Raveen K
  • Zurbriggen, Karin
  • Frischknecht, Hannes

publication date

  • January 2008