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A novel fibrinogen variant – Liberec: dysfibrinogenaemia associated with γ Tyr262Cys substitution
Author(s) -
Kotlín Roman,
Sobotková Alžběta,
Suttnar Jiří,
Salaj Peter,
Walterová Lenka,
Riedel Tomáš,
Reicheltová Zuzana,
Dyr Jan Evangelista
Publication year - 2008
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2008.01094.x
Subject(s) - fibrinogen , fibrin , coagulation , kinetics , thrombin time , scanning electron microscope , microbiology and biotechnology , mutation , thrombin , medicine , chemistry , pathology , biochemistry , biology , immunology , gene , materials science , platelet , partial thromboplastin time , physics , quantum mechanics , composite material
Objective: A 22‐yr‐old woman had abnormal preoperative coagulation test results and congenital dysfibrinogenaemia was suspected. Patients and methods: The patient from Liberec (Czech Republic) had a low fibrinogen plasma level as determined by Clauss method, normal fibrinogen level as determined by immunoturbidimetrical method, and prolonged thrombin time. To identify the genetic mutation responsible for this dysfibrinogen, genomic DNA extracted from the blood was analysed. Fibrin polymerisation measurement, kinetics of fibrinopeptide release, fibrinogen clottability measurement and scanning electron microscopy were performed. Results: DNA sequencing showed the heterozygous fibrinogen γ Y262C mutation. Kinetics of fibrinopeptide release was normal, however fibrin polymerisation was impaired. Fibrinogen clottability measurement showed that only about 45% molecules of fibrinogen are involved in the clot formation. Scanning electron microscopy revealed thicker fibres, which were significantly different from the normal control. Conclusion: A case of dysfibrinogenaemia, found by routine coagulation testing, was genetically identified as a novel fibrinogen variant (γ Y262C) that has been named Liberec.