Dysfibrinogenaemia and afibrinogenaemia in the Czech Republic
Authors:
R. Kotlín; E. Ceznerová; J. Loužil; J. Štikarová; O. Pastva; J. Suttnar; P. Salaj; J. E. Dyr
Authors‘ workplace:
Ústav hematologie a krevní transfuze, Praha
Published in:
Transfuze Hematol. dnes,23, 2017, No. Supplementum1, p. 8-19.
Category:
Overview
Fibrinogen is a key glycoprotein of blood coagulation. During haemocoagulation fibrinogen is converted to fibrin. Congenital dysfibrinogenemia is a disease wherein an inherited abnormality in the fibrinogen molecule results in defective fibrin clot formation. Hereditary hypofibrinogenemia is a disease wherein an inherited abnormality in the fibrinogen molecule results in low fibrinogen level in plasma.
36 unrelated families in the Czech Republic suspected with either dysfibrinogenemia or afibrinogenemia were examined. Four patients presented with thrombosis, eight patients presented with bleeding tendencies and others were asymptomatic. Heterozygous point mutations Aα Arg16Cys (Fibrinogen Nový Jičín, Ostrava I), Aα Arg16His (Fibrinogen Praha II, Ostrava II), Aα Asn106Asp (Fibrinogen Plzeň), γ Tyr363Asn (Fibrinogen Praha III), γ Tyr262Cys (Fibrinogen Liberec) and γ Arg275His (Fibrinogen Brno) were found to be the direct causes of dysfibrinogenemias in the carriers.
Molecular genetics experiments revealed inherited mutations in 13 unrelated families causing hereditary dysfibrinogenemia. In one case acquired dysfibrinogenemia secondary to multiple myeloma was found.
Key words:
fibrinogen – dysfibrinogenaemia – afibrinogenaemia – coagulation
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