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Blood, 1 January 2007, Vol. 109, No. 1, pp. 112-121. Prepublished online as a Blood First Edition Paper on September 19, 2006; DOI 10.1182/blood-2006-05-020784. This Article Full Text (PDF) Supplemental Table Erratum (v111,p3299) All Versions of this Article: blood-2006-05-020784v1 109/1/112    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Goodeve, A. Articles by Peake, I. Search for Related Content PubMed PubMed Citation Articles by Goodeve, A. Articles by Peake, I. Related Collections Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted May 5, 2006 Accepted August 22, 2006 Phenotype and genotype of a cohort of families historically diagnosed with Type 1 von Willebrand Disease in the European study, molecular and clinical markers for the diagnosis and management of Type 1 von Willebrand Disease (MCMDM-1VWD) Anne Goodeve*, Jeroen Eikenboom, Giancarlo Castaman, Francesco Rodeghiero, Augusto B. Federici, Javier Batlle, Dominique Meyer, Claudine Mazurier, Jenny Goudemand, Reinhard Schneppenheim, Ulrich Budde, Jorgen Ingerslev, David Habart, Zdena Vorlova, Lars Holmberg, Stefan Lethagen, John Pasi, Frank Hill, Mohammad Hashemi Soteh, Luciano Baronciani, Christer Hallden, Andrea Guilliatt, Will Lester, and Ian Peake Academic Unit of Haematology, University of Sheffield, Sheffield, UK Department of Hematology, Leiden University Medical Center, Leiden, Netherlands Hematology Department, San Bortolo Hospital, Vicenza, Italy Hematology Department of San Bortolo Hospital, Vicenza, Italy Hemophilia and Thrombosis Centre, University of Milan, Milan, Italy Servicio de Hamatologia y Hemoterapia, Hospital Teresa Herrera, La Coruna, Spain INSERM U143, INSERM, Paris, France Laboratoire Francais du Fractionnement et des Biotechnologies, Lille, France University of Lille, Lille, France University Medical Center Hamburg-Eppendorf, Hamburg, Germany Coagulation Laboratory, Hamburg, Germany Centre for Haemophilia and Thrombosis, University Hospital Skejby, Aarhus, Denmark Institute of Hematology and Blood Transfusion, Prague, Czech Republic Department of Paediatrics, University of Lund, Lund, Sweden Department for Coagulation Disorders, University of Lund, Malmo, Sweden Department of Pathology, Leicester Royal Infirmary, Leicester, UK Department of Haematology, Children's Hospital, Birmingham, UK Academic Unit of Haemotology, University of Sheffield, Sheffield, UK * Corresponding author; email: a.goodeve{at}shef.ac.uk. Type 1 von Willebrand disease (VWD) is characterized by a personal and family history of bleeding, co-incident with reduced levels of normal plasma von Willebrand factor (VWF). The molecular basis of the disorder is poorly understood. The aims of this study were to determine phenotype and genotype and their relationship in patients historically diagnosed with type 1 VWD. Families were recruited in nine European countries based on previous type 1 VWD diagnosis. Bleeding symptoms were recorded, plasma phenotype analyzed, and VWF mutation analysis performed in all index cases (IC). Phenotypic and molecular analysis stratified patients into those with/without phenotypes suggestive of qualitative VWF defects (abnormal multimers) and with/without mutations. 105 of 150 IC (70%) had mutations identified. A subgroup with abnormal multimers (38% IC, 57/150) showed a high prevalence of VWF gene mutations (95% of IC, 54/57), whereas in those with qualitatively normal VWF, fewer mutations were identified (55% of IC, 51/93). About one third of the type 1 VWD cases recruited could be reconsidered as type 2. The remaining group could be considered "true" type 1 VWD, although mutations were found in only 55%. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: VWD data worth 10 000 words J. Evan Sadler Blood 2007 109: 3. [Full Text] [PDF]

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