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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 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 Citation Map 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 HighWire 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 Hemostasis, Thrombosis, and Vascular Biology Cell Adhesion and Motility Free Research Articles Clinical Trials and Observations Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY 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 Goodeve1,, Jeroen Eikenboom2, Giancarlo Castaman3, Francesco Rodeghiero3, Augusto B. Federici4, Javier Batlle5, Dominique Meyer6, Claudine Mazurier7, Jenny Goudemand8, Reinhard Schneppenheim9, Ulrich Budde10, Jorgen Ingerslev11, David Habart12, Zdena Vorlova12, Lars Holmberg13, Stefan Lethagen14, John Pasi15, Frank Hill16, Mohammad Hashemi Soteh1, Luciano Baronciani4, Christer Hallden14, Andrea Guilliatt16, Will Lester16, and Ian Peake1 1 The Academic Unit of Haematology, University of Sheffield, United Kingdom; 2 Department of Hematology, Leiden University Medical Center, The Netherlands; 3 Hematology Department, San Bortolo Hospital, Vicenza, Italy; 4 Hemophilia and Thrombosis Centre, Foundation IRCCS Maggiore Policlinico Hospital, Mangiagalli Regina Elena and University of Milan, Italy; 5 Servicio de Hematologia y Hemoterapia, Hospital Teresa Herrera, La Coruna, Spain; 6 Institut National de la Santé et de la Recherche Médicale (INSERM U143), INSERM, Paris, France; 7 Laboratoire Français du Fractionnement et des Biotechnologies, Lille, France; 8 University of Lille, France; 9 University Medical Center Hamburg-Eppendorf, Department of Pediatric Hematology and Oncology, Hamburg, Germany; 10 Coagulation Laboratory, Hamburg, Germany; 11 Centre for Haemophilia and Thrombosis, University Hospital Skejby, Aarhus, Denmark; 12 Institute of Hematology and Blood Transfusion, Prague, Czech Republic; 13 Department of Paediatrics, University of Lund, Sweden; 14 Department for Coagulation Disorders, University of Lund, Malmö, Sweden; 15 Department of Pathology, Leicester Royal Infirmary, United Kingdom; and 16 Department of Haematology, Children's Hospital, Birmingham, United Kingdom Type 1 von Willebrand disease (VWD) is characterized by a personal and family history of bleeding coincident 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 9 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 (ICs). Phenotypic and molecular analysis stratified patients into those with or without phenotypes suggestive of qualitative VWF defects (abnormal multimers) and with or without mutations. A total of 105 of 150 ICs (70%) had mutations identified. A subgroup with abnormal multimers (38% of ICs, 57 of 150) showed a high prevalence of VWF gene mutations (95% of ICs, 54 of 57), whereas in those with qualitatively normal VWF, fewer mutations were identified (55% of ICs, 51 of 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] This article has been cited by other articles: F. Rodeghiero, G. Castaman, and A. Tosetto How I treat von Willebrand disease Blood, August 6, 2009; 114(6): 1158 - 1165. [Abstract] [Full Text] [PDF] A. C. Goodeve When 1 plus 1 equals 3 in VWD Blood, July 30, 2009; 114(5): 933 - 934. [Abstract] [Full Text] [PDF] M. S. Sutherland, A. M. Cumming, M. Bowman, P. H. B. Bolton-Maggs, D. J. Bowen, P. W. Collins, C. R. M. Hay, A. M. Will, and S. Keeney A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3 Blood, July 30, 2009; 114(5): 1091 - 1098. [Abstract] [Full Text] [PDF] A. B Federici and M. T. Canciani Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease Haematologica, May 1, 2009; 94(5): 610 - 615. [Full Text] [PDF] A. Perez-Rodriguez, A. Garcia-Rivero, E. Loures, M. F. Lopez-Fernandez, A. Rodriguez-Trillo, and J. Batlle Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications Haematologica, May 1, 2009; 94(5): 679 - 686. [Abstract] [Full Text] [PDF] M. E. Daly, B. B. Dawood, W. A. Lester, I. R. Peake, F. Rodeghiero, A. C. Goodeve, M. Makris, J. T. Wilde, A. D. Mumford, S. P. Watson, et al. Identification and characterization of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study Blood, April 23, 2009; 113(17): 4110 - 4113. [Abstract] [Full Text] [PDF] S. L. Haberichter, G. Castaman, U. Budde, I. Peake, A. Goodeve, F. Rodeghiero, A. B. Federici, J. Batlle, D. Meyer, C. Mazurier, et al. Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD) Blood, May 15, 2008; 111(10): 4979 - 4985. [Abstract] [Full Text] [PDF] A. Tosetto, G. Castaman, and F. Rodeghiero Evidence-based diagnosis of type 1 von Willebrand disease: a Bayes theorem approach Blood, April 15, 2008; 111(8): 3998 - 4003. [Abstract] [Full Text] [PDF] G. Castaman, S. Lethagen, A. B. Federici, A. Tosetto, A. Goodeve, U. Budde, J. Batlle, D. Meyer, C. Mazurier, E. Fressinaud, et al. Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD Blood, April 1, 2008; 111(7): 3531 - 3539. [Abstract] [Full Text] [PDF] M. H. Soteh, I. R Peake, L. Marsden, J. Anson, J. Batlle, D. Meyer, E. Fressinaud, C. Mazurier, J. Goudemand, J. Eikenboom, et al. Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques Haematologica, April 1, 2007; 92(4): 550 - 553. [Abstract] [Full Text] [PDF] J. A. Davies, P. W. Collins, L. S. Hathaway, and D. J. Bowen Effect of von Willebrand factor Y/C1584 on in vivo protein level and function and interaction with ABO blood group Blood, April 1, 2007; 109(7): 2840 - 2846. [Abstract] [Full Text] [PDF] C. J. M. van Schooten, C. V. Denis, T. Lisman, J. C. J. Eikenboom, F. W. Leebeek, J. Goudemand, E. Fressinaud, H. M. van den Berg, P. G. de Groot, and P. J. Lenting Variations in glycosylation of von Willebrand factor with O-linked sialylated T antigen are associated with its plasma levels Blood, March 15, 2007; 109(6): 2430 - 2437. [Abstract] [Full Text] [PDF] What Is Type 1 von Willebrand Disease? Journal Watch Oncology and Hematology, January 22, 2007; 2007(122): 5 - 5. [Full Text]

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