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Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation
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Genetics of type 1 von Willebrand disease

Anne Goodeve1

  • 1Academic Unit of Haematology, University of Sheffield, Sheffield, UK. a.goodeve@shef.ac.uk

Current Opinion in Hematology
|October 16, 2007
PubMed

Insights

Type 1 von Willebrand disease (VWD) genetics are complex. Some patients have von Willebrand factor gene mutations, while others have blood group O, suggesting multiple genetic factors contribute to VWD.

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Type 1 von Willebrand disease (VWD) is the most common form of VWD.
  • It has historically been the least understood subtype.
  • Recent research is clarifying its genetic underpinnings.

Purpose of the Study:

  • To review recent analyses of the genetic basis of Type 1 VWD.
  • To summarize current understanding of VWD genetics.

Main Methods:

  • Review of recent genetic analyses.
  • Linkage analysis in Type 1 VWD families.
  • Candidate gene mutation analysis of the von Willebrand factor (VWF) gene.

Main Results:

  • Approximately 50% of Type 1 VWD families show dominantly inherited, fully penetrant VWD.
  • 55-70% of index cases have a candidate VWF gene mutation; missense mutations are most common.
  • Blood group O is more prevalent in Type 1 VWD, especially in cases with incomplete penetrance or no VWF mutation.

Conclusions:

  • Type 1 VWD can be categorized into three groups based on genetic factors.
  • Group 1: Fully penetrant VWF mutations explain low VWF and bleeding.
  • Group 2: VWF mutations may interact with blood group O and other factors.
  • Group 3: VWF mutations are absent, but VWF may still play a role, with blood group O being common.
Abstract

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