• Roman Kotlín, Alzbeta Sobotková, Jirí Suttnar, Peter Salaj, Lenka Walterová, Tomás Riedel, Zuzana Reicheltová, and Jan Evangelista Dyr.
• Institute of Haematology and Blood Transfusion, Praha 2, Czech Republic. kotlinr@uhkt.cz
• Eur. J. Haematol. 2008 Aug 1; 81 (2): 123-9.

ObjectiveA 22-yr-old woman had abnormal preoperative coagulation test results and congenital dysfibrinogenaemia was suspected.Patients And MethodsThe 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.ResultsDNA sequencing showed the heterozygous fibrinogen gamma 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.ConclusionA case of dysfibrinogenaemia, found by routine coagulation testing, was genetically identified as a novel fibrinogen variant (gamma Y262C) that has been named Liberec.

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