Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy

Maura Acquila, Mirella Pasino, Tiziana Lanza, Federico Bottini, Angelo Claudio Molinari, Maria Patrizia Bicocchi

Research output: Contribution to journalArticlepeer-review

Abstract

A rearrangement of exon 13 in the factor VIII gene has been identified as the causative mutation in 32% of Northern Italian patients with mild hemophilia A. We have demonstrated that all share a common haplotype, thus suggesting that the mutation likely occurred in a single ancestor. To date, no predominant mutation has been identified in mild hemophilia A, therefore it would be extremely useful to carry out more extensive studies to ascertain whether the mutation is confined to northern Italy.

Original languageEnglish
Pages (from-to)758-759
Number of pages2
JournalHaematologica
Volume89
Issue number6
Publication statusPublished - Jun 2004

Keywords

  • Exon 13
  • Hemophilia A
  • Mutation

ASJC Scopus subject areas

  • Hematology

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