{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:30:44Z","timestamp":1790501444849,"version":"4.1.0"},"reference-count":40,"publisher":"American Society of Hematology","issue":"1","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,12,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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\u2019s 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.<\/jats:p>","DOI":"10.1182\/asheducation-2016.1.678","type":"journal-article","created":{"date-parts":[[2016,12,2]],"date-time":"2016-12-02T11:05:27Z","timestamp":1480676727000},"page":"678-682","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":31,"title":["Diagnosing von Willebrand disease: genetic analysis"],"prefix":"10.1182","volume":"2016","author":[{"given":"Anne","family":"Goodeve","sequence":"first","affiliation":[{"name":"Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield and Sheffield Diagnostic Genetics Service, Sheffield Children\u2019s NHS Foundation Trust, Sheffield, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"7","key":"2019111703213260200_B1","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/S0025-6196(12)62088-6","article-title":"von Willebrand factor: clinical features of inherited and acquired disorders","volume":"66","author":"Bloom","year":"1991","journal-title":"Mayo Clin Proc"},{"issue":"3","key":"2019111703213260200_B2","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1097\/MBC.0000000000000065","article-title":"Update on von Willebrand factor multimers: focus on high-molecular-weight multimers and their role in hemostasis","volume":"25","author":"Stockschlaeder","year":"2014","journal-title":"Blood Coagul Fibrinolysis"},{"issue":"26","key":"2019111703213260200_B3","doi-asserted-by":"crossref","first-page":"4037","DOI":"10.1182\/blood-2014-02-557264","article-title":"The bleeding score predicts clinical outcomes and replacement therapy in adults with von Willebrand disease","volume":"123","author":"Federici","year":"2014","journal-title":"Blood"},{"issue":"4","key":"2019111703213260200_B4","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1111\/bjh.13064","article-title":"The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology","volume":"167","author":"Laffan","year":"2014","journal-title":"Br J Haematol"},{"issue":"5","key":"2019111703213260200_B5","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1055\/s-0031-1281034","article-title":"Nordic Haemophilia Council\u2019s practical guidelines on diagnosis and management of von Willebrand disease","volume":"37","author":"Lassila","year":"2011","journal-title":"Semin Thromb Hemost"},{"issue":"7","key":"2019111703213260200_B6","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1111\/jth.12964","article-title":"Platelet-dependent von Willebrand factor activity. 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