{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T10:26:40Z","timestamp":1782210400740,"version":"3.54.5"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hereditas"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>This commentary aims to highlight the importance of applying the diagnostic and classification guidelines of the International Society on Thrombosis and Haemostasis (ISTH), along with standardized bleeding assessment tools, in the evaluation of patients with congenital fibrinogen disorders. Additionally, it addresses key laboratory methodologies relevant to the diagnosis of these conditions. We believe that this commentary will contribute meaningfully to the ongoing discussions and promote the adoption of standardized approaches in the assessment of rare congenital fibrinogen disorders.<\/jats:p>","DOI":"10.1186\/s41065-025-00435-2","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T06:24:10Z","timestamp":1745303050000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disorders"],"prefix":"10.1186","volume":"162","author":[{"given":"Mustafa Vakur","family":"Bor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"issue":"1","key":"435_CR1","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/s41065-024-00313-3","volume":"161","author":"X Xie","year":"2024","unstructured":"Xie X, Du J, Geng S, Yi B, Li Q, Zuo J. A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family. Hereditas. 2024;161(1):9. https:\/\/doi.org\/10.1186\/s41065-024-00313-3. PMID: 38374144; PMCID: PMC10877905.","journal-title":"Hereditas"},{"key":"435_CR2","doi-asserted-by":"publisher","unstructured":"Bor MV. Congenital fibrinogen disorders. Ugeskr Laeger. 2024;186(1):V04230274. Danish. https:\/\/doi.org\/10.61409\/V04230274. PMID: 38235772.","DOI":"10.61409\/V04230274"},{"key":"435_CR3","doi-asserted-by":"crossref","unstructured":"Casini A, Undas A, Palla R, Thachil J, de Moerloose P. for the Subcommittee on Factor XIII and Fibrinogen. Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH. J Thromb Haemost 2018; 16: 1887\u201390.","DOI":"10.1111\/jth.14216"},{"key":"435_CR4","doi-asserted-by":"publisher","first-page":"2063","DOI":"10.1111\/j.1538-7836.2010.03975.x","volume":"8","author":"F Rodeghiero","year":"2010","unstructured":"Rodeghiero F, Tosetto A, Abshire T, Arnold DM, Coller B, James P, Neunert C, Lillicrap D, ISTH\/SSC joint VWF and Perinatal\/Pediatric Hemostasis Subcommittees Working Group. ISTH\/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost. 2010;8:2063\u20135.","journal-title":"J Thromb Haemost"},{"key":"435_CR5","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.thromres.2016.11.008","volume":"148","author":"R Palla","year":"2016","unstructured":"Palla R, Siboni SM, Menegatti M, Musallam KM, Peyvandi F. European network of rare bleeding disorders (EN-RBD) group. Establishment of a bleeding score as a diagnostic tool for patients with rare bleeding disorders. Thromb Res. 2016;148:128\u201334.","journal-title":"Thromb Res"},{"key":"435_CR6","doi-asserted-by":"publisher","unstructured":"Brunclikova M, Simurda T, Zolkova J, Sterankova M, Skornova I, Dobrotova M, et al. Heterogeneity of Genotype-Phenotype in congenital Hypofibrinogenemia-A review of case reports associated with bleeding and thrombosis. J Clin Med. 2022;11(4). https:\/\/doi.org\/10.3390\/jcm11041083.","DOI":"10.3390\/jcm11041083"},{"key":"435_CR7","doi-asserted-by":"crossref","unstructured":"Casini A. From Routine to Research Laboratory: Strategies for the Diagnosis of Congenital Fibrinogen Disorders. Hamostaseologie. 2020;40(4):460\u2013466. doi: 10.1055\/a-1182-3510. Epub 2020 Jul 9. PMID: 32645726.","DOI":"10.1055\/a-1182-3510"},{"issue":"4","key":"435_CR8","doi-asserted-by":"publisher","first-page":"e22322","DOI":"10.1002\/jcla.22322","volume":"32","author":"L Xiang","year":"2018","unstructured":"Xiang L, Luo M, Yan J, Liao L, Zhou W, Deng X, et al. Combined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: screening for congenital dysfibrinogenemia. J Clin Lab Anal. 2018;32(4):e22322.","journal-title":"J Clin Lab Anal"},{"issue":"2","key":"435_CR9","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1055\/s-0041-1730358","volume":"48","author":"MV Bor","year":"2022","unstructured":"Bor MV, Feddersen S, Pedersen IS, Sidelmann JJ, Kristensen SR. Dysfibrinogenemia-Potential impact of genotype on thrombosis or bleeding. Semin Thromb Hemost. 2022;48(2):161\u201373. https:\/\/doi.org\/10.1055\/s-0041-1730358. Epub 2021 Jul 14. PMID: 34261148.","journal-title":"Semin Thromb Hemost"},{"issue":"6","key":"435_CR10","doi-asserted-by":"publisher","first-page":"2501","DOI":"10.1111\/bjh.19430","volume":"204","author":"MV Bor","year":"2024","unstructured":"Bor MV. Variants leading to dysfibrinogenaemia in the fibrinogen \u03b1-chain at residue Arg19 are not solely associated with bleeding, but also with thrombotic events. Br J Haematol. 2024;204(6):2501\u20133. https:\/\/doi.org\/10.1111\/bjh.19430. Epub 2024 Apr 12. PMID: 38607667.","journal-title":"Br J Haematol"}],"container-title":["Hereditas"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s41065-025-00435-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s41065-025-00435-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s41065-025-00435-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T06:24:15Z","timestamp":1745303055000},"score":1,"resource":{"primary":{"URL":"https:\/\/hereditasjournal.biomedcentral.com\/articles\/10.1186\/s41065-025-00435-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,22]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["435"],"URL":"https:\/\/doi.org\/10.1186\/s41065-025-00435-2","relation":{},"ISSN":["1601-5223"],"issn-type":[{"value":"1601-5223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,22]]},"assertion":[{"value":"28 March 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 April 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 April 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Publication"}},{"value":"The author has no conflicts of interest to declare.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}],"article-number":"68"}}