Fibrinogen kaiserslautern III: a new case of congenital dysfibrinogenemia with aalpha 16 arg-->cys substitution.
An abnormal fibrinogen was identified in a man with suspicious prolonged prothrombin time and a mild bleeding tendency. Coagulation studies showed marked prolonged thrombin and reptilase clotting times and a discrepancy between functional fibrinogen test and fibrinogen antigen. The rate of fibrinopeptide B release by thrombin was slightly delayed while the release of fibrinopeptide A was only half the normal amount. DNA sequencing revealed a heterozygous C to T point mutation in position 1202 of exon 2 of the Aalpha chain, resulting in the substitution of Arg-->Cys at position 16, the thrombin cleavage site. This mutation was found also in his 2 children. Both had a mild bleeding tendency too.
Loreth
R M
RM
Third Department of Medicine, Clinical Haemostaseology, Westpfalz-Klinikum, Kaiserslautern, Germany. Ralph.Loreth@-online.de
Meyer
M
M
Albert
F W
FW
D001778:Blood Coagulation Disorders / Q000151:congenital / Q000235:genetics; D001780:Blood Coagulation Tests; D005192:Family Health; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D005344:Fibrinopeptide A / Q000378:metabolism; D005345:Fibrinopeptide B / Q000378:metabolism; D006470:Hemorrhage / Q000209:etiology / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D013917:Thrombin / Q000494:pharmacology
D015241:Fibrinogens, Abnormal; D005344:Fibrinopeptide A; D005345:Fibrinopeptide B; D013917:Thrombin