{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T07:56:16Z","timestamp":1772956576068,"version":"3.50.1"},"reference-count":15,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hamostaseologie"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Introduction\u2003Inherited dysfibrinogenemia is a qualitative defect of fibrinogen caused by various mutations among three fibrinogen genes. Dysfibrinogenemia can be associated with an increased risk of thrombosis, bleeding, or both. Here, we report a 36-year-old female with dysfibrinogenemia who experienced two successful pregnancies under thromboprophylaxis after cerebral venous sinus thrombosis (CVST).<\/jats:p><jats:p>\n          Patients and Methods\u2003In addition to plasmatic coagulation tests, fibrinogen genes FGA, FGB, and FGG were screened using direct genomic DNA sequencing. The structural-functional implications of the detected mutation were analyzed in silico.<\/jats:p><jats:p>\n          Results\u2003Inherited dysfibrinogenemia was diagnosed in an index patient after CVST in a risk situation. Anticoagulation with warfarin was stopped after 12 months when the first pregnancy was planned. Pregnancy and spontaneous delivery (2020) was uncomplicated. A second pregnancy was interrupted because of acute cytomegalovirus infection and the third pregnancy was successful in 2022. Pregnancies were accompanied by thromboprophylaxis with enoxaparin 40\u2009mg once daily until 6 weeks postpartum. Substitution of fibrinogen has not become necessary in the index patient so far. Genetic analysis revealed a novel missense mutation (p. Arg510Cys) in the FGA gene (\u201cfibrinogen Bonn\u201d) in the index patient, as well as an asymptomatic sister, and their father who experienced recurrent pulmonary embolism. Surface exposure of wild-type Arg510 suggested the mutated Cys510 to form nonnative disulfide bonds with surface-exposed reactive cysteines from other plasma proteins like albumin leading to formation of aggregates and impaired fibrinolysis.<\/jats:p><jats:p>\n          Conclusions\u2003Fibrinogen Bonn might be associated with an increased risk of thrombosis, possibly due to impaired polymerization.<\/jats:p>","DOI":"10.1055\/a-2094-7191","type":"journal-article","created":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T22:47:06Z","timestamp":1689288426000},"page":"440-446","source":"Crossref","is-referenced-by-count":4,"title":["Fibrinogen Bonn (p. Arg510Cys) in the A\u03b1-Chain Is Associated with High Risk of Venous Thrombosis"],"prefix":"10.1055","volume":"43","author":[{"given":"V.","family":"Iva\u0161kevi\u010dius","sequence":"additional","affiliation":[{"name":"Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Biswas","sequence":"additional","affiliation":[{"name":"Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Singh","sequence":"additional","affiliation":[{"name":"Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Stulpinait\u0117","sequence":"additional","affiliation":[{"name":"Lithuanian University of Health Sciences, Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Reda","sequence":"additional","affiliation":[{"name":"Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"R\u00fchl","sequence":"additional","affiliation":[{"name":"Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Pezeshkpoor","sequence":"additional","affiliation":[{"name":"Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Pavlova","sequence":"additional","affiliation":[{"name":"Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Oldenburg","sequence":"additional","affiliation":[{"name":"Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,7,13]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/j.1749-6632.2001.tb03494.x","article-title":"Hereditary disorders of fibrinogen","volume":"936","author":"M Matsuda","year":"2001","journal-title":"Ann N Y Acad Sci"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/978-1-4615-3806-6_3","article-title":"Nucleotide sequences of the three genes coding for human fibrinogen","volume":"281","author":"D W Chung","year":"1990","journal-title":"Adv Exp Med Biol"},{"issue":"21","key":"ref3","first-page":"12674","article-title":"Assembly and secretion of fibrinogen. 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Fibrinogen \u201cCaracas V\u201d relation between very tight fibrin network and defective clot degradability","volume":"99","author":"R Marchi","year":"2000","journal-title":"Thromb Res"}],"container-title":["H\u00e4mostaseologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2094-7191.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,14]],"date-time":"2023-12-14T23:35:07Z","timestamp":1702596907000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2094-7191"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,13]]},"references-count":15,"journal-issue":{"issue":"06","published-online":{"date-parts":[[2023,12,14]]},"published-print":{"date-parts":[[2023,12]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2094-7191","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0720-9355","2567-5761"],"issn-type":[{"value":"0720-9355","type":"print"},{"value":"2567-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,13]]}}}