Fibrinogen Bonn (p. Arg510Cys) in the Aα-Chain Is Associated with High Risk of Venous Thrombosis
Ivaškevičius, V.; Biswas, A.; Singh, S.; Stulpinaitė, U.; Reda, S.; Rühl, H.; Pezeshkpoor, B.; Pavlova, A.; Oldenburg, J. · Zeitschrift für Orthopädie und Unfallchirurgie · 2023 · Heft 06 · S. 440 bis 446
Bibliografische Angaben
Zusammenfassung
Abstract Introduction Inherited 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). Patients and Methods In 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…
