Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation

Gtancarlo Castaman, Jeroen C J Eienboom, Antonella Lattuada, Pier Mannuccio Mannucci, Francesco Rodeghiero

Research output: Contribution to journalArticlepeer-review

Abstract

We studied the proteolytic pattern of the mutant von Willebrand factor (VWF) in four patients with yon Willebrand disease (VWD) who were either homozygous or hemizygous for the mutation C2362F. A significant decrease in the native fragment of 225 kDa was evident in all the patients, together with a marked increase in the 176 and 140 kDa fragments, a pattern usually observed in type 2A VWD. The proteolytic pattern measured in four heterozygotes for C2362F was within the normal range, suggesting that the mutant VWF C2362F present in the plasma of these patients may be protected from proteolysis by normal VWF.

Original languageEnglish
Pages (from-to)188-190
Number of pages3
JournalBritish Journal of Haematology
Volume108
Issue number1
DOIs
Publication statusPublished - 2000

Keywords

  • Inherited bleeding disorders
  • Von Willebrand disease
  • Von Willebrand factor

ASJC Scopus subject areas

  • Hematology

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