Two novel fibrinogen variants in the C-terminus of the Bβ-chain: fibrinogen Rokycany and fibrinogen Znojmo.

Journal of Thrombosis and Thrombolysis
Roman KotlínJan Evangelista Dyr

Abstract

Hereditary dysfibrinogenemia is a rare disorder wherein an inherited abnormality in fibrinogen structure may result in defective fibrin function and/or structure. Congenital hypofibrinogenemia is a rare autosomal bleeding disorder, either recessive or dominant, characterized by a low fibrinogen plasma level. A 28-year-old asymptomatic woman (fibrinogen Rokycany) and a 54-year-old man with thrombosis and pulmonary embolism (fibrinogen Znojmo) were investigated for a suspected fibrinogen mutation after abnormal coagulation tests results were obtained. DNA sequencing showed the heterozygous point mutation Bβ Asn351Lys in fibrinogen Rokycany and the heterozygous point mutation Bβ Arg237Ser in fibrinogen Znojmo, respectively. The kinetics of fibrinopeptide release was found to be normal in both cases. Fibrinolysis was impaired in the Znojmo variant. The average fibril diameters of Znojmo fibrin was slightly increased, but not differing significantly from normal; formed by less fibrils with abrupt fibril terminations. Rheological studies revealed a softer clot. Rokycany fibrin was formed by significantly narrower fibrils than normal fibrin; and the clot was denser than the control clot. Rheological studies revealed a stiffer clot. Im...Continue Reading

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Citations

Oct 11, 2013·Thrombosis and Haemostasis·Zuzana Riedelová-ReicheltováJan Evangelista Dyr
Nov 30, 2010·Thrombosis Research·Roman KotlínJan E Dyr
Feb 2, 2016·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Antonio GirolamiAnna Maria Lombardi
Jun 14, 2016·Haemophilia : the Official Journal of the World Federation of Hemophilia·A Casini, P de Moerloose
May 1, 2018·International Journal of Laboratory Hematology·A WeiF Lin
Oct 21, 2016·Physiological Research·Z Riedelová-ReicheltováT Riedel

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