{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T18:47:55Z","timestamp":1770749275860,"version":"3.50.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100002322","name":"CAPES","doi-asserted-by":"crossref","award":["CAPES"],"award-info":[{"award-number":["CAPES"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico"],"award-info":[{"award-number":["Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo"],"award-info":[{"award-number":["Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Thromb Thrombolysis"],"DOI":"10.1007\/s11239-025-03134-x","type":"journal-article","created":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T09:25:43Z","timestamp":1756459543000},"page":"35-42","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic mutations associated with congenital fibrinogen disorders: global distribution and clinical outcomes"],"prefix":"10.1007","volume":"59","author":[{"given":"Tha\u00eds","family":"N\u00f3brega","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Villa\u00e7a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica","family":"Okazaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Rothschild","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bianca","family":"Stefanello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T\u00e2nia","family":"Rocha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanderson","family":"Rocha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7908-9073","authenticated-orcid":false,"given":"Fernanda","family":"A. Orsi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,8,29]]},"reference":[{"key":"3134_CR1","unstructured":"Geer JP, Foerster J, Lukens JN, Rodgers GM, Paraskevas F, Glader B (2013) Wintrobe\u2019s - Clinical hematology, 13th edn. Lippincott Williams and Wilkins"},{"key":"3134_CR2","volume-title":"Hematology: basic principles and practice","year":"2022","unstructured":"Hoffman R, Benz EJ, Silberstein LE, Heslop H, Weitz J, Salama ME et al (eds) (2022) Hematology: basic principles and practice, 8th edn. Elsevier - Health Sciences Division, Philadelphia, PA","edition":"8"},{"issue":"6","key":"3134_CR3","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1055\/s-0033-1349222","volume":"39","author":"P De Moerloose","year":"2013","unstructured":"De Moerloose P, Casini A, Neerman-Arbez M (2013) Congenital fibrinogen disorders: an update. Semin Thromb Hemost 39(6):585\u2013595","journal-title":"Semin Thromb Hemost"},{"key":"3134_CR4","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1007\/978-3-319-49674-0_13","volume":"82","author":"JW Weisel","year":"2017","unstructured":"Weisel JW, Litvinov RI, Weisel JW, Litvinov RI (2017) Fibrin formation, structure and properties. Subcell Biochem 82:405\u2013456","journal-title":"Subcell Biochem"},{"issue":"9","key":"3134_CR5","doi-asserted-by":"publisher","first-page":"1887","DOI":"10.1111\/jth.14216","volume":"16","author":"A Casini","year":"2018","unstructured":"Casini A, Undas A, Palla R, Thachil J, de Moerloose P (2018) Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH. J Thromb Haemost 16(9):1887\u20131890","journal-title":"J Thromb Haemost"},{"key":"3134_CR6","doi-asserted-by":"crossref","unstructured":"Casini A, De Moerloose P (2021) How I treat dysfibrinogenemia. Blood. 138(21):2021\u201330. 2021. Available from: http:\/\/ashpublications.org\/blood\/article-pdf\/138\/21\/2021\/1848458\/bloodbld2020010116.pdf","DOI":"10.1182\/blood.2020010116"},{"key":"3134_CR7","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1111\/jth.12229","volume":"11","author":"RAS Ari\u00ebns","year":"2013","unstructured":"Ari\u00ebns RAS (2013) Fibrin(ogen) and thrombotic disease. J Thromb Haemost 11:294\u2013305","journal-title":"J Thromb Haemost"},{"issue":"4","key":"3134_CR8","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1111\/j.1538-7836.2012.04653.x","volume":"10","author":"F Peyvandi","year":"2012","unstructured":"Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B et al (2012) Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European network of rare bleeding disorders. J Thromb Haemost 10(4):615\u2013621","journal-title":"J Thromb Haemost"},{"issue":"6","key":"3134_CR9","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1111\/j.1365-2516.2008.01831.x","volume":"14","author":"SS Acharya","year":"2008","unstructured":"Acharya SS, Dimichele DM (2008) Rare inherited disorders of fibrinogen. Haemophilia 14(6):1151\u20131158","journal-title":"Haemophilia"},{"key":"3134_CR10","first-page":"553","volume":"125","author":"A Casini","year":"2014","unstructured":"Casini A, Blondon M, Aur\u00b4 A, Lebreton A, Er\u00e9mieer\u00b4er\u00e9mie K, J\u00b4, Tintillier V et al (2014) Nat History Patients Congenital Dysfibrinogenemia 125:553","journal-title":"Nat History Patients Congenital Dysfibrinogenemia"},{"issue":"2","key":"3134_CR11","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1111\/bjh.12085","volume":"160","author":"SE Shapiro","year":"2013","unstructured":"Shapiro SE, Phillips E, Manning RA, Morse CV, Murden SL, Laffan MA et al (2013) Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia. Br J Haematol 160(2):220\u2013227","journal-title":"Br J Haematol"},{"issue":"8","key":"3134_CR12","doi-asserted-by":"publisher","first-page":"2126","DOI":"10.1016\/j.jtha.2023.04.035","volume":"21","author":"J Hugon-Rodin","year":"2023","unstructured":"Hugon-Rodin J, Carri\u00e8re C, Claeyssens S, Trillot N, Drillaud N, Biron-Andreani C et al (2023) Obstetrical complications in hereditary fibrinogen disorders: the fibrinogest study. J Thromb Haemost 21(8):2126\u20132136","journal-title":"J Thromb Haemost"},{"key":"3134_CR13","first-page":"593","volume-title":"The rare coagulation disorders - Review with guidelines for management from the united Kingdom haemophilia centre doctors\u2019 organisation","author":"PHB Bolton-Maggs","year":"2004","unstructured":"Bolton-Maggs PHB, Perry DJ, Chalmers EA, Parapia LA, Wilde JT, Williams MD et al (2004) The rare coagulation disorders - Review with guidelines for management from the united Kingdom haemophilia centre doctors\u2019 organisation, vol 10. Blackwell Publishing Ltd, Haemophilia, pp 593\u2013628"},{"issue":"6","key":"3134_CR14","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1111\/jth.12916","volume":"13","author":"A Casini","year":"2015","unstructured":"Casini A, Neerman-Arbez M, Ari\u00ebns RA, de Moerloose P (2015) Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. J Thromb Haemost 13(6):909\u2013919","journal-title":"J Thromb Haemost"},{"key":"3134_CR15","unstructured":"Hanss M, Biot F A Database for Human Fibrinogen Variants [Internet]. Available from: http:\/\/www.med.unc.edu\/isth"},{"key":"3134_CR16","unstructured":"Shapiro SE Diagnosis and Management of Dysfibrinogenemia [Internet]. Available from https:\/\/www.hematologyandoncology.net\/files\/2018\/09\/ho0918Shapiro-1.pdf"},{"key":"3134_CR17","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.thromres.2015.11.008","volume":"137","author":"A Casini","year":"2016","unstructured":"Casini A, Duval C, Pan X, Tintillier V, Biron-Andreani C, Ari\u00ebns RAS (2016) Fibrin clot structure in patients with congenital dysfibrinogenaemia. Thromb Res 137:189\u2013195","journal-title":"Thromb Res"},{"issue":"3","key":"3134_CR18","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1161\/ATVBAHA.110.213389","volume":"31","author":"ST Lord","year":"2011","unstructured":"Lord ST (2011) Molecular mechanisms affecting fibrin structure and stability. Arterioscler Thromb Vasc Biol 31(3):494\u2013499","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"3134_CR19","doi-asserted-by":"crossref","unstructured":"Casini A, de Moerloose P (2016) Can the phenotype of inherited fibrinogen disorders be predicted? vol 22. Haemophilia. Blackwell Publishing Ltd, pp 667\u2013675","DOI":"10.1111\/hae.12967"},{"key":"3134_CR20","first-page":"284","volume-title":"Fibrin(ogen) in human disease: both friend and foe","author":"R Vilar","year":"2020","unstructured":"Vilar R, Fish RJ, Casini A, Neerman-Arbez M (2020) Fibrin(ogen) in human disease: both friend and foe, vol 105. Ferrata Storti Foundation, Haematologica, pp 284\u2013296"},{"issue":"20","key":"3134_CR21","doi-asserted-by":"publisher","first-page":"5025","DOI":"10.1182\/bloodadvances.2020002740","volume":"4","author":"JL Saes","year":"2020","unstructured":"Saes JL, Verhagen MJA, Meijer K, Cnossen MH, Schutgens REG, Peters M et al (2020) Bleeding severity in patients with rare bleeding disorders: Real-life data from the RBiN study. Blood Adv 4(20):5025\u20135034","journal-title":"Blood Adv"},{"issue":"3","key":"3134_CR22","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1160\/TH14-07-0629","volume":"113","author":"R Asselta","year":"2015","unstructured":"Asselta R, Plat\u00e8 M, Robusto M, Borhany M, Guella I, Sold\u00e0 G et al (2015) Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. Thromb Haemost 113(3):567\u2013576","journal-title":"Thromb Haemost"},{"issue":"1","key":"3134_CR23","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1097\/MBC.0000000000000867","volume":"31","author":"LA Virmond","year":"2020","unstructured":"Virmond LA, Micheletti C, Pinto CMS, Soares MFF, Milanezi F, Nakano V et al (2020) Congenital afibrinogenemia in a patient with vascular abnormalities and a novel variant: Clinical-molecular description and literature review. Blood Coag Fibrinol 31(1):65\u201370","journal-title":"Blood Coag Fibrinol"},{"issue":"6","key":"3134_CR24","doi-asserted-by":"publisher","first-page":"1392","DOI":"10.1182\/bloodadvances.2023012186","volume":"8","author":"S Mohsenian","year":"2024","unstructured":"Mohsenian S, Palla R, Menegatti M, Cairo A, Lecchi A, Casini A et al (2024) Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the prospective rare bleeding disorders database. Blood Adv 8(6):1392\u20131404","journal-title":"Blood Adv"},{"issue":"4","key":"3134_CR25","doi-asserted-by":"publisher","first-page":"800","DOI":"10.1002\/rth2.12127","volume":"2","author":"N Smith","year":"2018","unstructured":"Smith N, Bornikova L, Noetzli L, Guglielmone H, Minoldo S, Backos DS et al (2018) Identification and characterization of novel mutations implicated in congenital fibrinogen disorders. Res Pract Thromb Haemost 2(4):800\u2013811","journal-title":"Res Pract Thromb Haemost"},{"issue":"3","key":"3134_CR26","first-page":"167","volume":"137","author":"A Ushijima","year":"2017","unstructured":"Ushijima A, Komai T, Masukawa A, Oikawa K, Morita N, Asai S et al (2017) Hypodysfibrinogenemia with a heterozygous mutation of \u03b3cys326Ser by the novel transversion of TGT to TCT in a patient with pulmonary thromboembolism and right ventricular Thrombus. Cardiol (Switzerland) 137(3):167\u2013172","journal-title":"Cardiol (Switzerland)"},{"key":"3134_CR27","unstructured":"World Federation of Hemophilia Report on the Annual Global Survey (2022) 2023. Available from: www.wfh.org"},{"issue":"1","key":"3134_CR28","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1046\/j.1365-2141.1999.01681.x","volume":"107","author":"M Lak","year":"1999","unstructured":"Lak M, Keihani M, Elahi F, Peyvandi F, Mannucci PM (1999) Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol 107(1):204\u2013206","journal-title":"Br J Haematol"},{"issue":"3","key":"3134_CR29","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1046\/j.1365-2516.2002.00633.x","volume":"8","author":"F Peyvandi","year":"2002","unstructured":"Peyvandi F, Duga S, Akhavan S, Mannucci PM (2002) Rare coagulation deficiencies. Haemophilia 8(3):308\u2013321","journal-title":"Haemophilia"},{"issue":"13","key":"3134_CR30","doi-asserted-by":"publisher","first-page":"3685","DOI":"10.1182\/blood.V98.13.3685","volume":"98","author":"R Asselta","year":"2001","unstructured":"Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, Targhetta R, Malcovati M, Mannucci PM, Tenchini ML (2001) Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood 98(13):3685\u20133692","journal-title":"Blood"}],"container-title":["Journal of Thrombosis and Thrombolysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11239-025-03134-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11239-025-03134-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11239-025-03134-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T13:42:11Z","timestamp":1770644531000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11239-025-03134-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,29]]},"references-count":30,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["3134"],"URL":"https:\/\/doi.org\/10.1007\/s11239-025-03134-x","relation":{},"ISSN":["1573-742X"],"issn-type":[{"value":"1573-742X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,29]]},"assertion":[{"value":"12 May 2025","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 August 2025","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no conflicts of interest to declare that are relevant to the content of this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}