Fibrinogen kaiserslautern III: A new case of congenital dysfibrinogenemia with A alpha 16 Arg -> Cys substitution

An abnormal fibrinogen was identified in a man with suspicious prolonged pr othrombin time and a mild bleeding tendency. Coagulation studies showed mar ked prolonged thrombin and reptilase clotting times and a discrepancy betwe en functional fibrinogen test and fibrinogen antigen. The rate of fibrinope ptide B release by thrombin was slightly delayed while the release of fibri nopeptide A was only half the normal amount. DNA sequencing revealed a hete rozygous C to T point mutation in position 1202 of exon 2 of the Aa chain, resulting in the substitution of Arg --> Cys at position 16, the thrombin c leavage site. This mutation was found also in his 2 children. Both had a mi ld bleeding tendency too. Copyright (C) 2001 S. Karger AG, Basel.