{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T21:47:34Z","timestamp":1787867254319,"version":"build-2784847793"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,2,28]],"date-time":"2014-02-28T00:00:00Z","timestamp":1393545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Exon 28 polymorphism p.D1472H is associated with significantly lower von Willebrand Ristocetin cofactor activity (<jats:styled-content style=\"fixed-case\">VWF<\/jats:styled-content>:<jats:styled-content style=\"fixed-case\">RC<\/jats:styled-content>oF) to von Willebrand antigen (<jats:styled-content style=\"fixed-case\">VWF<\/jats:styled-content>:Ag) ratio compared to normal, but has been reported as not conferring haemorrhagic risk. The impact of this polymorphism while assessing symptomatic patients for von Willebrand disease (<jats:styled-content style=\"fixed-case\">VWD<\/jats:styled-content>) has not been previously analysed. We retrospectively reviewed charts of children with clinically significant bleeding and abnormal <jats:styled-content style=\"fixed-case\">VW<\/jats:styled-content> panel who underwent <jats:styled-content style=\"fixed-case\">VW<\/jats:styled-content> exon 28 analysis. Twenty\u2010three of 63 patients studied had p.D1472H. Of these 23 patients, 6 with borderline low <jats:styled-content style=\"fixed-case\">VWF<\/jats:styled-content>:<jats:styled-content style=\"fixed-case\">RC<\/jats:styled-content>o were given provisional diagnosis of <jats:styled-content style=\"fixed-case\">VWD<\/jats:styled-content> type 1 by treating physicians, which could be alternatively explained as due to the effect of p.D1472H. None of the patients with low <jats:styled-content style=\"fixed-case\">VWF<\/jats:styled-content>:<jats:styled-content style=\"fixed-case\">RC<\/jats:styled-content>o, decreased <jats:styled-content style=\"fixed-case\">VWF<\/jats:styled-content>:<jats:styled-content style=\"fixed-case\">RC<\/jats:styled-content>o\/<jats:styled-content style=\"fixed-case\">VWF<\/jats:styled-content>:Ag ratio and p.D1472H had <jats:styled-content style=\"fixed-case\">VWD<\/jats:styled-content> type 2M mutations identified. This study illustrates the challenge in diagnosing <jats:styled-content style=\"fixed-case\">VWD<\/jats:styled-content> using ristocetin\u2010based <jats:styled-content style=\"fixed-case\">VW<\/jats:styled-content> assay in symptomatic patients with p.D1472H.<\/jats:p>","DOI":"10.1111\/hae.12384","type":"journal-article","created":{"date-parts":[[2014,3,1]],"date-time":"2014-03-01T17:42:04Z","timestamp":1393695724000},"source":"Crossref","is-referenced-by-count":6,"title":["Diagnostic challenges in patients with bleeding phenotype and von Willebrand exon 28 polymorphism p.D1472H"],"prefix":"10.1111","volume":"20","author":[{"given":"J. C.","family":"Francis","sequence":"first","affiliation":[{"name":"Division of Pediatric and Adolescent Gynecology Department of Obstetrics and Gynecology Baylor College of Medicine Houston TX USA"},{"name":"Department of Pathology Baylor College of Medicine Houston TX USA"},{"name":"Baylor College of Medicine Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.\u2010K.","family":"Hui","sequence":"additional","affiliation":[{"name":"Department of Pathology Baylor College of Medicine Houston TX USA"},{"name":"Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"D.","family":"Mahoney","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"},{"name":"Department of Pediatrics Section of Hematology\/Oncology Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. E.","family":"Dietrich","sequence":"additional","affiliation":[{"name":"Division of Pediatric and Adolescent Gynecology Department of Obstetrics and Gynecology Baylor College of Medicine Houston TX USA"},{"name":"Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. D.","family":"Friedman","sequence":"additional","affiliation":[{"name":"Blood Center of Wisconsin Milwaukee WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Soundar","sequence":"additional","affiliation":[{"name":"Department of Pathology Baylor College of Medicine Houston TX USA"},{"name":"Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. V.","family":"Srivaths","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"},{"name":"Department of Pediatrics Section of Hematology\/Oncology Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,2,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2011.04.025"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation.V2012.1.161.3798231"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2007.01643.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12008"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2006.02146.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-10-249102"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-12-471672"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1182\/blood.V60.1.201.201","article-title":"A variant of von Willebrand's disease with abnormal expression of factor VIII procoagulant activity","volume":"60","author":"Montgomery RR","year":"1982","journal-title":"Blood"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.12064"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-08-299016"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12019"}],"container-title":["Haemophilia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fhae.12384","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/hae.12384","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T08:15:27Z","timestamp":1695543327000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/hae.12384"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,28]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1111\/hae.12384"],"URL":"https:\/\/doi.org\/10.1111\/hae.12384","archive":["Portico"],"relation":{},"ISSN":["1351-8216","1365-2516"],"issn-type":[{"value":"1351-8216","type":"print"},{"value":"1365-2516","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,28]]}}}