Samin Mohsenian, Roberta Palla, Marzia Menegatti, Andrea Cairo, Anna Lecchi, Alessandro Casini, Marguerite Neerman-Arbez, Rosanna Asselta, Sara Scardo, Simona Maria Siboni, Jan Blatný, Ondrej Zapletal, Jean-Francois Schved, Muriel Giansily-Blaizot, Susan Halimeh, Ayman Daoud, Helen Platokouki, Helen Pergantou, Roger E G Schutgens, Monique Van Haaften-Spoor, Paul Brons, Britta A P Laros-van Gorkom, Elise Van Pinxten, Munira Borhany, Naveena Fatima, Danijela Mikovic, Marko Saracevic, Gül Nihal Özdemir, Yılmaz Ay, Michael Makris, Caryl Lockley, Andrew D Mumford, Andrew Harvey, Steven Kenneth Austin, Amy D Shapiro, Adrianna Williamson, Catherine McGuinn, Ilene Goldberg, Philippe de Moerloose, Flora Peyvandi
Congenital fibrinogen deficiency (CFD) is a rare bleeding disorder caused by mutations in FGA, FGB and FGG. We sought to comprehensively characterize patients with CFD using PRO-RBDD (Prospective Rare Bleeding Disorders Database). Clinical phenotypes, laboratory and genetic features were investigated using retrospective data from the PRO-RBDD. Patients were classified from asymptomatic to grade III based on their bleeding severity. In addition, FGA, FGB and FGG were sequenced to find causative variants. A total of 166 CFD cases from 16 countries were included, of whom 123 (30 afibrinogenemia, 33 hypofibrinogenemia, 55 dysfibrinogenemia, 5 hypodysfibrinogenemia) were well characterized...
January 29, 2024: Blood Advances