{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T10:45:18Z","timestamp":1787827518715,"version":"build-2784847793"},"reference-count":43,"publisher":"Georg Thieme Verlag KG","issue":"10","license":[{"start":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T00:00:00Z","timestamp":1736726400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People's Republic of China","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Key Research and Development Program of China","award":["2022YFC2304600"],"award-info":[{"award-number":["2022YFC2304600"]}]},{"name":"National Key Research and Development Program of China","award":["2023YFC2509500"],"award-info":[{"award-number":["2023YFC2509500"]}]},{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People's Republic of China","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82170131"],"award-info":[{"award-number":["82170131"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82470134"],"award-info":[{"award-number":["82470134"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Young Top-notch Talent Cultivation Program of Hubei Province","award":["202117"],"award-info":[{"award-number":["202117"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Thromb Haemost"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To investigate the classification, clinical manifestations, laboratory findings, and genetic mutations associated with hereditary fibrinogen disorders in Chinese population.<\/jats:p><jats:p>Between February 2015 and February 2022, 65 patients with congenital fibrinogen disorders (CFD) were identified at Wuhan Union Hospital. Comprehensive data were available for 51 patients, allowing for a retrospective analysis.<\/jats:p><jats:p>The cohort comprised 17 males (33.3%) and 34 females (66.7%), with a median diagnosis age of 35.0 years (interquartile range: 25.5\u201342.5). Of the patients, 35 (68.6%) were diagnosed with dysfibrinogenemia, 8 (15.7%) with hypofibrinogenemia, 7 (13.7%) with hypodysfibrinogenemia, and 1 (2.0%) with afibrinogenemia. The median diagnosis ages for the asymptomatic, Grade 1, Grade 2, and Grade 3 groups were 44.5 years (range: 37\u201358.5), 28 years (22.5\u201336.5), 35.5 years (21.75\u201341), and 28 years (22.75\u201330.75), respectively. The asymptomatic group had the latest diagnosis age, whereas Grade 3 had the earliest. A negative correlation was observed between Fg:C levels and bleeding severity (rs\u2009=\u2009\u2212\u20090.2937, p\u2009=\u20090.0365). In total, 52 variants were found in 51 unrelated patients, with one patient carrying two mutations. The 37 distinct mutations included 11 in FGA, 3 in FGB, and 23 in FGG.<\/jats:p><jats:p>This study investigates the clinical, laboratory, and genetic characteristics of patients with CFD in China, revealing a negative correlation between Fg:C levels and bleeding severity. Female patients are at higher risk for gynecological complications due to physiological traits. Additionally, R35 in FGA and R301 in FGG were identified as hotspot mutations.<\/jats:p>","DOI":"10.1055\/a-2514-7520","type":"journal-article","created":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T18:51:26Z","timestamp":1736794286000},"page":"972-984","source":"Crossref","is-referenced-by-count":4,"title":["Clinical and Genetic Characterization of 51 Patients with Congenital Fibrinogen Disorders from China"],"prefix":"10.1055","volume":"125","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6279-6345","authenticated-orcid":false,"given":"Yaohua","family":"Cai","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Key Lab of Molecular Biological Targeted Therapies of the Ministry of Education, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Lu","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Key Lab of Molecular Biological Targeted Therapies of the Ministry of Education, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyi","family":"Lin","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Key Lab of Molecular Biological Targeted Therapies of the Ministry of Education, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunqing","family":"Xia","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Key Lab of Molecular Biological Targeted Therapies of the Ministry of Education, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Wu","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Key Lab of Molecular Biological Targeted Therapies of the Ministry of Education, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhipeng","family":"Cheng","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Key Lab of Molecular Biological Targeted Therapies of the Ministry of Education, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Hubei Clinical and Research Center of Thrombosis and Hemostasis, Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang V.","family":"Tang","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Key Lab of Molecular Biological Targeted Therapies of the Ministry of Education, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Hubei Clinical and Research Center of Thrombosis and Hemostasis, Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Hu","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Key Lab of Molecular Biological Targeted Therapies of the Ministry of Education, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China"},{"name":"Hubei Clinical and Research Center of Thrombosis and Hemostasis, Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2025,1,31]]},"reference":[{"issue":"08","key":"ref1","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1111\/j.1538-7836.2005.01365.x","article-title":"Fibrinogen and fibrin structure and 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