Rm. Loreth et al., Fibrinogen kaiserslautern III: A new case of congenital dysfibrinogenemia with A alpha 16 Arg -> Cys substitution, HAEMOSTASIS, 31(1), 2001, pp. 12-17
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.