The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients

Dezsö David, Célia Ventura, Isabel Moreira, Maria J. Diniz, Margarida Antunes, Alice Tavares, Fernando Araújo, Sara Morais, Manuel Campos, João Lavinha, Geoffrey Kemball-Cook

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Disease-causing alterations within the F8 gene were identified in 177 hemophilia A families of Portuguese origin. The spectrum of non-inversion F8 mutations in 101 families included 67 different alterations, namely: 36 missense, 8 nonsense and 4 splice site mutations, as well as 19 insertions/deletions. Thirty-four of these mutations are novel. Molecular modeling allowed prediction of the conformational changes introduced by selected amino acid substitutions and their correlation with the patients' phenotypes. The relatively frequent, population-specific, missense mutations together with de novo alterations can lead to significant differences in the spectrum of F8 mutations among different populations.

Original languageEnglish
Pages (from-to)840-843
Number of pages4
JournalHaematologica
Volume91
Issue number6
Publication statusPublished - 2006

Keywords

  • Hemophilia A
  • Molecular modeling
  • Spectrum of mutations
  • Splicing mutations
  • vWF

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