Download PDF
Thromb Haemost 2014; 111(04): 777-779
DOI: 10.1160/TH13-06-0462
Letters to the Editor
Schattauer GmbH

Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion

Florian Langer
1   II. Medizinische Klinik und Poliklinik (Onkologie, Hämatologie und Knochenmarktransplantation mit Sektion Pneumologie), Universitätsklinikum Eppendorf, Hamburg, Germany
,
Tobias Obser
2   Klinik und Poliklinik für Pädiatrische Hämatologie und Onkologie, Universitätsklinikum Eppendorf, Hamburg, Germany
,
Florian Oyen
2   Klinik und Poliklinik für Pädiatrische Hämatologie und Onkologie, Universitätsklinikum Eppendorf, Hamburg, Germany
,
Brigitte Spath
1   II. Medizinische Klinik und Poliklinik (Onkologie, Hämatologie und Knochenmarktransplantation mit Sektion Pneumologie), Universitätsklinikum Eppendorf, Hamburg, Germany
,
Katharina Holstein
1   II. Medizinische Klinik und Poliklinik (Onkologie, Hämatologie und Knochenmarktransplantation mit Sektion Pneumologie), Universitätsklinikum Eppendorf, Hamburg, Germany
,
Andreas Greinacher
3   Institut für Immunologie und Transfusionsmedizin, Ernst-Moritz-Arndt-Universität, Greifswald, Germany;
,
James G. White
4   Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA
,
Ulrich Budde
5   MEDILYS Laborgesellschaft mbH, Hamburg, Germany
,
Carsten Bokemeyer
1   II. Medizinische Klinik und Poliklinik (Onkologie, Hämatologie und Knochenmarktransplantation mit Sektion Pneumologie), Universitätsklinikum Eppendorf, Hamburg, Germany
,
Reinhard Schneppenheim
2   Klinik und Poliklinik für Pädiatrische Hämatologie und Onkologie, Universitätsklinikum Eppendorf, Hamburg, Germany
› Author Affiliations
Further Information

Publication History

Received: 10 June 2013

Accepted after minor revision: 20 November 2013

Publication Date:
29 November 2017 (online)

    Permissions and Reprints

 

 

  • References

  • 1 Sadler JE, Budde U, Eikenboom JC. et al. Working Party on von Willebrand Disease Classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor.. J Thromb Hae-most 2006; 4: 2103-2114.
    CrossrefPubMedGoogle Scholar
  • 2 Ruggeri ZM, Pareti FI, Mannucci PM. et al. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand’s disease.. N Engl J Med 1980; 302: 1047-1051.
    CrossrefPubMedGoogle Scholar
  • 3 Rayes J, Hommais A, Legendre P. et al. Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13.. J Thromb Haemost 2007; 5: 321-328.
    CrossrefPubMedGoogle Scholar
  • 4 Federici AB, Canciani MT. Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.. Haematologica 2009; 94: 610-615.
    CrossrefPubMedGoogle Scholar
  • 5 Federici AB, Mannucci PM, Castaman G. et al. Clinical and molecular predictors of thrombocy-topenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.. Blood 2009; 113: 526-534.
    CrossrefPubMedGoogle Scholar
  • 6 Jackson SC, Sinclair GD, Cloutier S. et al. The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation.. Blood 2009; 113: 3348-3351.
    CrossrefPubMedGoogle Scholar
  • 7 Poon MC, Rand ML, Jackson SC. 2B or not to be -the 45-year saga of the Montreal Platelet Syndrome.. Thromb Haemost 2010; 104: 903-910.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 8 Bowman M, Mundell G, Grabell J. et al. Generation and validation of the Condensed MCMDM1VWD Bleeding Questionnaire for von Willebrand disease.. J Thromb Haemost 2008; 6: 2062-2066.
    CrossrefPubMedGoogle Scholar
  • 9 ISTH-SSC VWF Online Database.. Available at: http://www.vwf.group.shef.ac.uk . Accessed May 20, 2013.
    PubMedGoogle Scholar
  • 10 Schneppenheim R, Michiels JJ, Obser T. et al. A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.. Blood 2010; 115: 4894-4901.
    CrossrefPubMedGoogle Scholar
  • 11 Victor M, Rugeri L, Nougier C. et al. Contribution of genetical analysis for diagnosis of von Wille-brand’s disease type 2B.. Haemophilia 2009; 15: 610-612.
    CrossrefPubMedGoogle Scholar
  • 12 Loffredo G, Baronciani L, Noris P. et al. von Willebrand disease type 2B must be always considered in the differential diagnosis of genetic thrombocy-topenias with giant platelets.. Platelets 2006; 17: 149-152.
    CrossrefPubMedGoogle Scholar
  • 13 Nurden AT, Federici AB, Nurden P. Altered mega-karyocytopoiesis in von Willebrand type 2B disease.. J Thromb Haemost 2009; 7 (Suppl. 01) 277-281.
    PubMedGoogle Scholar
  • 14 Nurden P, Gobbi G, Nurden A. et al. Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B.. Blood 2010; 115: 2649-2656.
    CrossrefPubMedGoogle Scholar
  • 15 Casonato A, Steffan A, Pontara E. et al. Post-DDAVP thrombocytopenia in type 2B von Willebrand disease is not associated with platelet consumption: failure to demonstrate glycocalicin increase or platelet activation.. Thromb Haemost 1999; 81: 224-228.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 16 Nurden P, Chretien F, Poujol C. et al. Platelet ultra-structural abnormalities in three patients with type 2B von Willebrand disease.. Br J Haematol 2000; 110: 704-714.
    CrossrefPubMedGoogle Scholar