{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T20:10:09Z","timestamp":1770754209405,"version":"3.50.0"},"reference-count":20,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2024,2,17]],"date-time":"2024-02-17T00:00:00Z","timestamp":1708128000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,2,17]],"date-time":"2024-02-17T00:00:00Z","timestamp":1708128000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"abstract":"<jats:p>Introduction: Congenital fibrinogen disorders are a heterogenous group of fibrinogen defects. Case Presentation: Here, we describe hypodysfibrinogenemia in a 33-year-old female patient with provoked recurrent deep vein thrombosis (DVT) diagnosed based on decreased functional and antigenic fibrinogen levels with a decreased functional\/antigenic fibrinogen ratio. Definitive diagnosis of congenital hypodysfibrinogenemia is done by genotyping using whole-exome sequencing, which identified the \u03b3326Cys\u2192Tyr mutation combined with single-nucleotide polymorphisms: rs2070011 and rs2070018 in FGA and rs1049636 in FGG. Fibrin structure assays showed reduced maximum polymerization rate. The mother of the proband shares the same \u03b3326Cys\u2192Tyr mutation and experienced a provoked DVT. Conclusion: Our case with DVT is the third ever-described occurrence of the mutation \u03b3326Cys\u2192Tyr that is associated with hypodysfibrinogenemia. The mechanism by which this mutation induces thrombosis remains unknown. Due to the high recurrence risk of thrombosis, the patient was treated with long-term reduced dose of rivaroxaban (10 mg daily) as secondary prophylaxis. <\/jats:p>","DOI":"10.1159\/000536562","type":"journal-article","created":{"date-parts":[[2024,3,19]],"date-time":"2024-03-19T22:00:33Z","timestamp":1710885633000},"page":"564-570","source":"Crossref","is-referenced-by-count":2,"title":["Congenital Hypodysfibrinogenemia due to \u03b3326Cys\u2192Tyr Mutation: Third Ever-Described Case Associated with Recurrent Venous Thrombosis and COVID Vaccine"],"prefix":"10.1159","volume":"147","author":[{"given":"Kumanan Rune","family":"Nanthan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inge S\u00f8kilde","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorte Terp","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa Vakur","family":"Bor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2024,2,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/s1040-8428(86)80019-1"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1581104"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-09-306639"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-004-3458-8"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.thromres.2009.03.011"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1349222"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/jth.13655"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11041083"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics11112140"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1055\/s-0041-1730358"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/jth.14216"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1616565"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1160\/TH05-05-1108"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1021\/bi001847a"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1097\/MBC.0b013e328354a23b"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.20452\/pamw.16078"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1159\/000457899"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2004.0584d.x"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000006537"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.20452\/pamw.15082"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/aha\/article-pdf\/147\/5\/564\/4282078\/000536562.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/aha\/article-pdf\/147\/5\/564\/4282078\/000536562.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:08:22Z","timestamp":1745424502000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000536562"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,17]]},"references-count":20,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,9,26]]},"published-print":{"date-parts":[[2024,9,30]]}},"URL":"https:\/\/doi.org\/10.1159\/000536562","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"value":"0001-5792","type":"print"},{"value":"1421-9662","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,17]]}}}