10. Molecular Diagnosis of von Willebrand Disease: The Genotype
- Augusto B. Federici MD4,
- Christine A. Lee MA, MD, DSc (Med), FRCP, FRCPath, FRCOGad eundem5,
- Erik E. Berntorp MD, PhD6,
- David Lillicrap MD7,
- Robert R. Montgomery MD8,9
Published Online: 21 MAR 2011
DOI: 10.1002/9781444329926.ch10
Copyright © 2011 Blackwell Publishing Ltd
Book Title
Von Willebrand Disease: Basic and Clinical Aspects
Additional Information
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
- 4
Division of Hematology and Transfusion Medicine, L. Sacco University Hospital, Department of Internal Medicine, University of Milan, Milan, Italy
- 5
University of London, London, UK
- 6
Malmö Centre for Thrombosis and Haemostasis, Lund University, Skåne University Hospital, Malmö, Sweden
- 7
Department of Pathology and Molecular Medicine, Richardson Laboratory, Queen's University, Kingston, ON, Canada
- 8
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA
- 9
Blood Research Institute, Blood Center of Wisconsin, Milwaukee, WI, USA
Publication History
- Published Online: 21 MAR 2011
- Published Print: 25 MAR 2011
ISBN Information
Print ISBN: 9781405195126
Online ISBN: 9781444329926
- Summary
- Chapter
- References
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.