10. Molecular Diagnosis of von Willebrand Disease: The Genotype

  1. Augusto B. Federici MD4,
  2. Christine A. Lee MA, MD, DSc (Med), FRCP, FRCPath, FRCOGad eundem5,
  3. Erik E. Berntorp MD, PhD6,
  4. David Lillicrap MD7 and
  5. Robert R. Montgomery MD8,9
  1. Anne C. Goodeve BSc, PhD1,2 and
  2. Reinhard Schneppenheim MD, PhD3

Published Online: 21 MAR 2011

DOI: 10.1002/9781444329926.ch10

Von Willebrand Disease: Basic and Clinical Aspects

Von Willebrand Disease: Basic and Clinical Aspects

How to Cite

Goodeve, A. C. and Schneppenheim, R. (2011) Molecular Diagnosis of von Willebrand Disease: The Genotype, in Von Willebrand Disease: Basic and Clinical Aspects (eds A. B. Federici, C. A. Lee, E. E. Berntorp, D. Lillicrap and R. R. Montgomery), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444329926.ch10

Editor Information

  1. 4

    Division of Hematology and Transfusion Medicine, L. Sacco University Hospital, Department of Internal Medicine, University of Milan, Milan, Italy

  2. 5

    University of London, London, UK

  3. 6

    Malmö Centre for Thrombosis and Haemostasis, Lund University, Skåne University Hospital, Malmö, Sweden

  4. 7

    Department of Pathology and Molecular Medicine, Richardson Laboratory, Queen's University, Kingston, ON, Canada

  5. 8

    Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA

  6. 9

    Blood Research Institute, Blood Center of Wisconsin, Milwaukee, WI, USA

Author Information

  1. 1

    Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK

  2. 2

    Haemostasis Research Group, Department of Cardiovascular Science, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, UK

  3. 3

    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Publication History

  1. Published Online: 21 MAR 2011
  2. Published Print: 25 MAR 2011

ISBN Information

Print ISBN: 9781405195126

Online ISBN: 9781444329926

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Keywords:

  • founder effect;
  • genetic analysis;
  • genotype;
  • mutation;
  • polymorphism;
  • single nucleotide polymorphism;
  • von Willebrand factor;
  • von Willebrand disease

Summary

Mutation analysis in von Willebrand disease (VWD) is often undertaken to help clarify diagnosis of the disorder. This includes, but is not limited to, differential diagnosis between type 2N VWD and hemophilia A and between type 2B VWD and platelet-type VWD. The correct diagnosis is important for decisions on the most appropriate treatment modality and for appropriate genetic counseling of at-risk family members. This chapter reviews the mutations that contribute to VWD and the nature and location of mutation in each type of VWD. It then examines how diagnostic laboratories can use this knowledge in their genetic analysis strategies and in interpreting the pathogenesis of the candidate mutations identified.