Goodeve, A. orcid.org/0000-0002-6177-7062 (2016) Diagnosing von Willebrand disease: genetic analysis. Hematology, The Education Program, 2016 (1). pp. 678-682. ISSN 1520-4391
Abstract
Investigation of a patient with possible von Willebrand disease (VWD) includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient's disorder, and for this group, genetic analysis can aid diagnosis of disease type. Polymerase chain reaction and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next-generation sequencing has become available, with the advantage that several genes can be simultaneously analyzed where necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A. Additionally, several techniques can now identify deletions/duplications of an exon or more that result in VWD including multiplex ligation-dependent probe amplification and microarray analysis. Algorithms based on next-generation sequencing data can also identify missing or duplicated regions. These newer techniques enable causative von Willebrand factor defects to be identified in more patients than previously, aiding in a specific VWD diagnosis. Genetic analysis can also be helpful in the discrimination between type 2B and platelet-type VWD and in prenatal diagnosis for families with type 3.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2016 American Society of Hematology. This is an author produced version of a paper subsequently published in Hematology. Uploaded in accordance with the publisher's self-archiving policy. |
Keywords: | Base Sequence; Hemophilia A; High-Throughput Nucleotide Sequencing; Humans; Multiplex Polymerase Chain Reaction; Sequence Deletion; von Willebrand Disease, Type 2; von Willebrand Disease, Type 3 |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Infection, Immunity and Cardiovascular Disease The University of Sheffield > Sheffield Teaching Hospitals |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 22 Jun 2017 13:13 |
Last Modified: | 02 Dec 2017 01:38 |
Published Version: | https://doi.org/10.1182/asheducation-2016.1.678 |
Status: | Published |
Publisher: | American Society of Hematology |
Refereed: | Yes |
Identification Number: | 10.1182/asheducation-2016.1.678 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:113477 |