Thromb Haemost 2005; 94(03): 675-677
DOI: 10.1160/TH05-03-0675
Case Report
Schattauer GmbH

First report of two independent point factor VIII mutations in a family with haemophilia A: a word of caution for carrier diagnosis

Authors

  • Eduardo F. Tizzano

    1   Department of Genetics, Hospital de Sant Pau, Barcelona, Spain
  • Adoración Venceslá

    1   Department of Genetics, Hospital de Sant Pau, Barcelona, Spain
  • Manel Baena

    1   Department of Genetics, Hospital de Sant Pau, Barcelona, Spain
  • Mónica Cornet

    1   Department of Genetics, Hospital de Sant Pau, Barcelona, Spain
  • María T. Calvo

    2   Department of Genetics
  • José F. Lucía

    3   Department of Hematology, Hospital Miguel Servet, Zaragoza, Spain
  • Rosario Pérez Garrido

    4   Hemophilia Unit. Hospital Virgen del Rocío, Sevilla, Spain
  • Ramiro Núñez

    4   Hemophilia Unit. Hospital Virgen del Rocío, Sevilla, Spain
  • Montserrat. Baiget

    1   Department of Genetics, Hospital de Sant Pau, Barcelona, Spain

Financial support: This work was supported by Fundació Privada Catalana de l´Hemofilia.
Further Information

Publication History

Received: 30 March 2005

Accepted after major revision: 15 May 2005

Publication Date:
07 December 2017 (online)