{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:11:41Z","timestamp":1747185101470,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,30]],"date-time":"2023-11-30T00:00:00Z","timestamp":1701302400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The genetic variant responsible for haemophilia A (HA) significantly impacts endogenous coagulant factor VIII (FVIII:C) level, thus impacting DDAVP responsiveness. Blood group (BG) also impacts FVIII:C levels, but this is difficult to evaluate in a genetically heterogeneous population. Canada has a large cohort of mild\u2010moderate HA due to a single point variant: c.6104T&gt;C, p.Val2035Ala\u2014the <jats:italic>Twillingate<\/jats:italic> variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim<\/jats:title><jats:p>To evaluate the impact of BG on endogenous FVIII:C levels and DDAVP responsiveness in a single genotype of mild\u2010moderate HA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a retrospective, single\u2010centre study. BG and FVIII:C levels were obtained for males with the <jats:italic>Twillingate<\/jats:italic> variant. One\u2010hour absolute and fold increases in FVIII:C post\u2010DDAVP were calculated. <jats:italic>T<\/jats:italic>\u2010tests and Mann\u2013Whitney <jats:italic>U<\/jats:italic> tests were used to compare FVIII:C levels and DDAVP challenge variables between individuals according to BGs (O vs. non\u2010O).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty males were included. There were significant differences between BGs (O vs. non\u2010O) in their lowest FVIII:C level at age &lt;12\u00a0years (medians: 0.05\u00a0vs. 0.08 IU\/mL; <jats:italic>P<\/jats:italic>\u00a0=\u00a0.05). Fifteen subjects underwent DDAVP challenges. Mean 1\u2010h FVIII:C were 0.29 (O BG) versus 0.41 IU\/mL (non\u2010O BG); <jats:italic>P<\/jats:italic>\u00a0=\u00a0.04. There were no significant differences between BGs (O vs. non\u2010O) in mean absolute FVIII:C increase (0.20\u00a0vs. 0.27 IU\/mL; <jats:italic>P<\/jats:italic>\u00a0=\u00a0.10) and FVIII:C fold increase (3.3\u2010fold vs. 3.8\u2010fold; <jats:italic>P<\/jats:italic>\u00a0=\u00a0.51).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In HA subjects with an identical genotype, BG significantly impacts baseline FVIII:C levels and FVIII:C levels post\u2010DDAVP, but does not impact absolute and fold increases in FVIII:C with DDAVP.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hae.14896","type":"journal-article","created":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T05:08:21Z","timestamp":1701407301000},"page":"116-122","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Unravelling the effect of blood group on FVIII:C levels and response to DDAVP in 20 males with a single genotype (<i>Twillingate<\/i> Variant) causing Haemophilia A"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1940-3734","authenticated-orcid":false,"given":"Michael","family":"Shu","sequence":"first","affiliation":[{"name":"Division of Haematology\/Oncology Department of Paediatrics The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3916-7022","authenticated-orcid":false,"given":"Caroline","family":"Malcolmson","sequence":"additional","affiliation":[{"name":"Division of Haematology\/Oncology Department of Paediatrics The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3011-6445","authenticated-orcid":false,"given":"Vanessa","family":"Bouskill","sequence":"additional","affiliation":[{"name":"Department of Nursing The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann Marie","family":"Stain","sequence":"additional","affiliation":[{"name":"Department of Nursing The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cindy","family":"Wakefield","sequence":"additional","affiliation":[{"name":"Department of Nursing The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor S.","family":"Blanchette","sequence":"additional","affiliation":[{"name":"Division of Haematology\/Oncology Department of Paediatrics The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5350-1763","authenticated-orcid":false,"given":"Manuel D.","family":"Carcao","sequence":"additional","affiliation":[{"name":"Division of Haematology\/Oncology Department of Paediatrics The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,30]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2019.221093"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-11-469403"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2011.02572.x"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1612968"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.23557"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2008.02929.x"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.transci.2018.10.010"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2006.02273.x"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.13947"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.14322"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2009.02051.x"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.12173"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.13294"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/1076029611422364"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2010.02604.x"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.13581"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.14770"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2002.03507.x"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05275.x"}],"container-title":["Haemophilia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/hae.14896","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T13:08:11Z","timestamp":1712322491000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/hae.14896"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,30]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1111\/hae.14896"],"URL":"https:\/\/doi.org\/10.1111\/hae.14896","archive":["Portico"],"relation":{},"ISSN":["1351-8216","1365-2516"],"issn-type":[{"type":"print","value":"1351-8216"},{"type":"electronic","value":"1365-2516"}],"subject":[],"published":{"date-parts":[[2023,11,30]]},"assertion":[{"value":"2023-07-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}