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Thromb Haemost 2002; 88(03): 534-535
DOI: 10.1055/s-0037-1613249
Letters to the Editor
Schattauer GmbH

First Italian Families with Homozygous R854Q Type 2 N Von Willebrand Disease

Giancarlo Castaman
2   Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy
,
Elisabetta Novella
2   Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy
,
Laura Contino
1   Blood Transfusion Center, Hospital of Alessandria, Italy
,
Marta Demicheli
1   Blood Transfusion Center, Hospital of Alessandria, Italy
,
Francesco Rodeghiero
2   Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy
› Author Affiliations
Further Information

Publication History

Received 22 April 2002

Accepted after revision 30 May 2002

Publication Date:
08 December 2017 (online)

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  • References

  • 1 Mazurier C, Goudemand J, Hilbert L, Caron C, Fressinaud E, Meyer D. Type 2 N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. In Michiels JJ. (ed) Von Willebrand factor and von Willebrand disease. Clin Hematol. 2001. 14 337-48.
    Search in Google Scholar
  • 2 Eikenboom JCJ, Reitsma PH, Peerlinck KMJ, Briët E. Recessive inheritance of von Willebrand's disease type I. Lancet 1993; 341: 982-6.
    CrossrefPubMedSearch in Google Scholar
  • 3 Inbal A, Kornbrot N, Mannucci PM, Sadler JE. Very low frequency of “Normandy type” mutations among type 1 von Willebrand disease families. Thromb Haemost 1995; 73: 324.
    Thieme ConnectPubMedSearch in Google Scholar
  • 4 Casonato A, Gaucher C, Pontara E, Zucchetto A, Zerbinati P, Mazurier C, Girolami A. Type 2 N von Willebrand disease due to Arg91Gln substitution and a cytosine deletion in exon 18 of the von Willebrand factor gene. Br J Haematol 1998; 103: 39-41.
    CrossrefPubMedSearch in Google Scholar
  • 5 Casonato A, Pontara E, Sartorello F, Gemmati D, Cattini MG, Girolami A. Combined hemophilia A and type 2 von Willebrand's disease:defect of both factor VIII level and factor VIII binding capacity of von Willebrand factor. Haematologica 2001; 86: 1110-1.
    Search in Google Scholar
  • 6 Castaman G, Lattuada A, Mannucci PM, Rodeghiero F. Factor VIII:C increases after desmopressin in a subgroup of patients with autosomal recessive von Willebrand disease. Br J Haematol 1995; 89: 147-51.
    CrossrefPubMedSearch in Google Scholar
  • 7 Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, Alevy YG, Sadler JE. Structure of the gene for human von Willebrand factor. J Biol Chem 1989; 264: 19514-27.
    PubMedSearch in Google Scholar
  • 8 Mazurier C, Gaucher C, Jorieux S, Goudemand M. and the collaborative group. Biological effect of desmopressin in eight patients with type 2N (Normandy) von Willebrand disease. Br J Haematol 1994; 88: 849-54.
    CrossrefPubMedSearch in Google Scholar