{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T23:37:04Z","timestamp":1781739424793,"version":"3.54.5"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,4,30]],"date-time":"2022-04-30T00:00:00Z","timestamp":1651276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The incidence of afibrinogenemia had not been previously reported in Algeria. Afibrinogenemia patients are prone to both haemorrhagic and thrombotic complications. Predictive markers of thrombosis in afibrinogenemia patients are not existent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aims and methods<\/jats:title><jats:p>Clinical and biological data from 46 afibrinogenemia patients are reported. Biological investigations included routine tests, genetics analysis and thrombin generation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>FGA mutations (four novel and four previously described) and FGB mutations (seven mutations; five novels) were homozygous in all but one family as a result of 28 consanguineous marriages out of 30 discrete families. Incidence of afibrinogenemia in Algeria is at least 3 per million births. Umbilical bleeding was reported in 39\/46 cases and was the main discovery circumstance. We also report post trauma or post\u2010surgery (3\/46) bleeding and spontaneous deep vein thrombosis (DVT) in adulthood (1\/46), as discovery circumstances. The median age (10.5\u2010year\u2010old) of the population reported here explains why there are few hemarthrosis and obstetrical or gynaecological complications in this series. Thrombotic events were reported in seven patients (four spontaneous). Endogenous Thrombin Potential was significantly increased in thrombosis\u2010prone patients compared to afibrinogenemic patients with and without personal or familial history (1118 vs. 744 and 817\u00a0nM IIa\u00a0\u00d7\u00a0min, respectively).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The incidence of afibrinogenemia in Algeria is the consequence of consanguineous marriage in families carrying private mutations. The thrombin generation test (TGT) could identify, among afibrinogenemic patients, those presenting a thrombotic risk.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hae.14579","type":"journal-article","created":{"date-parts":[[2022,4,30]],"date-time":"2022-04-30T11:29:22Z","timestamp":1651318162000},"page":"822-831","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria"],"prefix":"10.1111","volume":"28","author":[{"given":"Soraya","family":"Hadjali\u2010Saichi","sequence":"first","affiliation":[{"name":"Center for Hemobiology\u2010Blood Transfusion Mustapha University Hospital Faculty of Medicine of Algiers  Algiers Algeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8091-9882","authenticated-orcid":false,"given":"Philippe","family":"de Mazancourt","sequence":"additional","affiliation":[{"name":"Laboratory of molecular biology and UVSQ UMR 1179 Ambroise Par\u00e9 Hospital  Boulogne\u2010Billancourt France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Tapon\u2010Bretaudi\u00e8re","sequence":"additional","affiliation":[{"name":"Hematology department European Georges Pompidou Hospital Paris University, and UMR\u2010S 970  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tristan","family":"Mirault","sequence":"additional","affiliation":[{"name":"Vascular Medicine department European Georges Pompidou Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kahina","family":"Guenounou","sequence":"additional","affiliation":[{"name":"Center for Hemobiology\u2010Blood Transfusion Mustapha University Hospital Faculty of Medicine of Algiers  Algiers Algeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Issam","family":"Frigaa","sequence":"additional","affiliation":[{"name":"Center for Hemobiology\u2010Blood Transfusion Mustapha University Hospital Faculty of Medicine of Algiers  Algiers Algeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Marie","family":"Fischer","sequence":"additional","affiliation":[{"name":"Hematology department European Georges Pompidou Hospital Paris University, and UMR\u2010S 970  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ouerdia","family":"Chafa","sequence":"additional","affiliation":[{"name":"Center for Hemobiology\u2010Blood Transfusion Mustapha University Hospital Faculty of Medicine of Algiers  Algiers Algeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Helley","sequence":"additional","affiliation":[{"name":"Hematology department European Georges Pompidou Hospital Paris 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