title: A novel fibrinogen variant--Liberec: dysfibrinogenaemia associated with gamma Tyr262Cys substitution.
abstract: OBJECTIVE
  A 22-yr-old woman had abnormal preoperative coagulation test results and congenital dysfibrinogenaemia was suspected.
  
  
  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 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.
  
  
  CONCLUSIONS
  A case of dysfibrinogenaemia, found by routine coagulation testing, was genetically identified as a novel fibrinogen variant (gamma Y262C) that has been named Liberec.
authors.affiliation: Institute of Haematology and Blood Transfusion, Praha 2, Czech Republic. kotlinr@uhkt.cz
authors.forename: Roman
authors.initials: R
authors.lastname: Kotlín
authors.forename: Alzbeta
authors.initials: A
authors.lastname: Sobotková
authors.forename: Jirí
authors.initials: J
authors.lastname: Suttnar
authors.forename: Peter
authors.initials: P
authors.lastname: Salaj
authors.forename: Lenka
authors.initials: L
authors.lastname: Walterová
authors.forename: Tomás
authors.initials: T
authors.lastname: Riedel
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Reicheltová
authors.forename: Jan Evangelista
authors.initials: JE
authors.lastname: Dyr
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000235:genetics*; D001777:Blood Coagulation / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense
chemical_list: D015241:Fibrinogens, Abnormal