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Dysfibrinogenemia in childhood: two cases of congenital dysfibrinogens

Publication at First Faculty of Medicine |
2010

Abstract

A 2-year-old asymptomatic boy and his relatives were investigated for a suspected fibrinogen mutation after coagulation tests revealed a decreased functional fibrinogen level (family A). Eight-year-old and 1-year-old asymptomatic brothers were investigated for a suspected fibrinogen mutation after coagulation tests revealed a decreased functional fibrinogen level and prolonged thrombin time (family B).

To identify whether genetic mutations were responsible for these dysfibrinogens, DNA extracted from the blood was analyzed.