0013344 2023 RIV US eng J
Ceznerová, Eliška^G - Kaufmanová, J. - Štikarová, Jana - Pastva, Ondřej - Loužil, Jan - Chrastinová, Leona - Suttnar, Jiří - Kotlín, Roman - Dyr, Jan Evangelista
Thrombosis-associated hypofibrinogenemia: novel abnormal fibrinogen variant FGG c.8G>A with oxidative posttranslational modifications.
Blood coagulation & fibrinolysis. Vol. 33, no. 4 (2022), s. 228-237. ISSN 0957-5235
Grant: Ministerstvo zdravotnictví NV18-08-00149
Institucionální podpora: RVO:00023736
Klíčová slova: hypofibrinogenemia * abnormal fibrinogen variant FGG c.8G>A * blood coagulation
Cite Score: 1.800, rok: 2022; SJR: 0.310, rok: 2022; IF: 1.1, rok: 2022
DOI: 10.1097/MBC.0000000000001125

Anotace: Here, we present the first case of fibrinogen variant FGG c.8G>A. We investigated the behaviour of this mutated fibrinogen in blood coagulation using fibrin polymerization, fibrinolysis, fibrinopeptides release measurement, mass spectrometry (MS), and scanning electron microscopy (SEM). The case was identified by routine coagulation testing of a 34-year-old man diagnosed with thrombosis. Initial genetic analysis revealed a heterozygous mutation in exon 1 of the FGG gene encoding gamma chain signal peptide. Fibrin polymerization by thrombin and reptilase showed the normal formation of the fibrin clot.