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Blood, 2 April 2009, Vol. 113, No. 14, pp. 3348-3351. Prepublished online as a Blood First Edition Paper on December 5, 2008; DOI 10.1182/blood-2008-06-165233. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2008-06-165233v1 113/14/3348    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 Jackson, S. C. Articles by Poon, M.-C. Search for Related Content PubMed PubMed Citation Articles by Jackson, S. C. Articles by Poon, M.-C. Related Collections Platelets and Thrombopoiesis Thrombosis and Hemostasis Brief Reports Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  PLATELETS AND THROMBOPOIESIS Brief report The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation Shannon C. Jackson1,2, Gary D. Sinclair3,4, Stephanie Cloutier5, Zhaoxia Duan1,2, Margaret L. Rand6,7, and Man-Chiu Poon1,2 1 Division of Hematology and Hematologic Malignancies, Department of Medicine, University of Calgary, Calgary, AB; 2 Calgary Health Region, Calgary, AB; 3 Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB; 4 Molecular Hematology, Calgary Laboratory Services, Calgary, AB; 5 Division of Hematology, Department of Medicine, Université Laval and CHA-Hôpital de l'Enfant-Jesus, Quebec City, QC; 6 Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, ON; and 7 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Montreal platelet syndrome (MPS), hitherto described in only one kindred, is a hereditary thrombocytopenia associated with mucocutaneous bleeding, giant platelets, and spontaneous platelet aggregation in vitro. These are features shared with some forms of type 2B von Willebrand disease (VWD); however, the MPS kindred had not been investigated for VWD. We found that all affected MPS family members had borderline to normal von Willebrand factor antigen (VWF:Ag; 0.43-0.75 U/mL), discrepantly low ristocetin cofactor activity (VWF:RCo; 0.16-0.29 U/mL), and normal factor VIII coagulant activity (FVIII:C; 0.57-1.04 U/mL). Unaffected family members all had normal VWF:Ag, VWF:RCo, and FVIII:C levels. In addition, persons with MPS, but not unaffected family members, had loss of plasma (but not platelet) high molecular weight VWF multimers, and were heterozygous for the previously reported V1316M type 2B VWD mutation. Thus, in reevaluating this kindred, we determined that patients with MPS have type 2B VWD with the V1316M VWF mutation. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: The VWD2B saga continues to Montreal Paquita Nurden Blood 2009 113: 3134-3135. [Full Text] [PDF] This article has been cited by other articles: P. Nurden, A. T Nurden, S. La Marca, M. Punzo, L. Baronciani, and A. B. Federici Platelet morphological changes in 2 patients with von Willebrand disease type 3 caused by large homozygous deletions of the von Willebrand factor gene Haematologica, November 1, 2009; 94(11): 1627 - 1629. [Full Text] [PDF] P. Nurden The VWD2B saga continues to Montreal Blood, April 2, 2009; 113(14): 3134 - 3135. [Full Text] [PDF]

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