{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T21:44:04Z","timestamp":1793742244793,"version":"4.6.1"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,5,10]],"date-time":"2025-05-10T00:00:00Z","timestamp":1746835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,5,10]],"date-time":"2025-05-10T00:00:00Z","timestamp":1746835200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The von Willebrand factor (VWF) p.D1472H variant has been shown to artificially lower ristocetin cofactor (VWF:RCo) levels because of impaired VWF binding to ristocetin. Understanding the variant's effect on platelet\u2010dependent VWF activity assays is crucial for avoiding over\u2010 or misdiagnosis of von Willebrand disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To determine whether p.D1472H affects the VWF:GPIbR latex immunoassay (LIA).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We investigated 150 subjects for VWF:Ag and platelet\u2010dependent VWF activity using four commercially available assays: VWF:GPIbR LIA, VWF:GPIbR chemiluminescence immunoassay (CLIA), VWF:RCo\u00a0automated, and VWF:GPIbM\u00a0LIA. p.D1472H was detected directly using Sanger sequencing or as part of other projects using next\u2010generation sequencing (NGS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 106 subjects were homozygous for aspartic acid [p.D1472H (\u2010)], 41 heterozygous, and 3 homozygous for histidine [p.D1472H (+)]. Using VWF:RCo, p.D1472H (+) subjects (\n                      <jats:italic>n<\/jats:italic>\n                      = 44) showed a significantly lower median VWF activity\/VWF:Ag ratio\u00a0than p.D1472H (\u2212) subjects (\n                      <jats:italic>p<\/jats:italic>\n                      &lt; 0.0001). No significant difference for this ratio was observed between the two groups when assessed using VWF:GPIbR LIA (\n                      <jats:italic>p<\/jats:italic>\n                      = 0.63). Similarly,\u00a0no significant difference was observed in the presence or absence of the variant (\n                      <jats:italic>p<\/jats:italic>\n                      = 0.31) for the VWF:GPIbR CLIA. Using VWF:GPIbM, a significant difference (\n                      <jats:italic>p<\/jats:italic>\n                      = 0.00052) was observed between the two median ratios.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our results for the first time show that VWF:GPIbR LIA, despite using ristocetin, is not affected by p.D1472H; hence, it offers reliable results to differentiate VWF quantitative from qualitative deficiencies. We further confirmed that VWF:RCo is highly compromised by p.D1472H, while\u00a0VWF:GPIbR CLIA is unaffected. VWF:GPIbM LIA results were significantly lower in the p.D1472H (+) subjects than those in p.D1472H (\u2212).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/hae.70060","type":"journal-article","created":{"date-parts":[[2025,5,10]],"date-time":"2025-05-10T08:24:43Z","timestamp":1746865483000},"page":"743-751","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Effect of the Polymorphic Variant p.D1472H on the Platelet\u2010Dependent VWF Activity Assays"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6630-7879","authenticated-orcid":false,"given":"Omid","family":"Seidizadeh","sequence":"first","affiliation":[{"name":"Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lismaira","family":"Pati","sequence":"additional","affiliation":[{"name":"Department of Biosciences Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciano","family":"Baronciani","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Angelo Bianchi Bonomi Hemophilia and Thrombosis Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Colpani","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Angelo Bianchi Bonomi Hemophilia and Thrombosis Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Cozzi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Angelo Bianchi Bonomi Hemophilia and Thrombosis Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0778-2271","authenticated-orcid":false,"given":"Maria Teresa","family":"Pagliari","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Angelo Bianchi Bonomi Hemophilia and Thrombosis Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1450-9935","authenticated-orcid":false,"given":"Cristina","family":"Novembrino","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Angelo Bianchi Bonomi Hemophilia and Thrombosis Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Cairo","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Angelo Bianchi Bonomi Hemophilia and Thrombosis Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Pappalardo","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7423-9864","authenticated-orcid":false,"given":"Flora","family":"Peyvandi","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano  Milan Italy"},{"name":"Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Angelo Bianchi Bonomi Hemophilia and Thrombosis Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,5,10]]},"reference":[{"key":"e_1_2_10_2_1","first-page":"224","article-title":"Biosynthesis of human von Willebrand Factor","volume":"18","author":"Verweij C. 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