Congenital dysfibrinogenemia : Fibrinogen lille (original) (raw)

Thrombosis Research, 1978

Abstract

A dysfibrinogenemia (fibrinogen Lille) was detected in a 6 year old girl with no history of unusual bleeding. Thrombin and batroxobin (“reptilase”) times were markedly prolonged. The plasma fibrinogen level was unmeasurable by a kinetic method (Clauss), whereas normal values were obtained by immunochemical (Laurell) and gravimetric (Ingram) assays. Levels of other coagulation factors were normal. Fibrinogen Lille had minimal effect on the clotting of normal fibrinogen by either thrombin or batroxobin. It underwent abnormal fibrin monomer aggregation, as evidenced by delayed onset and decreased rate and extent of aggregation, but fibrin crosslinking was normal. Fibrinogen and fibrin Lille, like their constituent polypeptide chains, exhibited normal migration rates during gel electrophoresis in dodecyl sulfate. Electrophoresis of plasmic digests revealed that the high molecular weight derivatives and fragments D from fibrinogen Lille were of normal size, whereas fragment E evolved differently. This difference was related to the prolonged maintenance of fibrinopeptide A on Lille fragment E. In addition, both the rate and extent of fibrinopeptide release from fibrinogen Lille by thrombin were diminished. When ancrod or batroxobin was used to study the release of fibrinopeptide A from fibrinogen Lille, the deviation from normal was extreme. These results indicate that the structural defect of fibrinogen Lille occurs in the NH2-terminal region of the molecule.

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