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Fibrinogen Genova was recognized in an Italian family. The propositus had no bleeding tendency and diagnosis was performed on the basis of prolonged prothrombin, thrombin and reptilase times of plasma, associated with normal fibrinogen levels. The purified fibrinogen showed an inhibitory effect on the clotting times of the normal one.  Functional studies performed on purified fibrinogen revealed that the clottability was reduced (74%, normal 88-94%) and the thrombin polymerization curve was abnormal due to a delayed fibrin monomers aggregation. The fibrino- peptides release was normal.  Analysis of plasmic derivatives carried out by both SDS gel electrophoresis (5 and 9%) and immunological methods showed some differences compared with normal fibrinogen. The fibrinogen chains were studied on isoelectric focusing slabs and SDS gel electrophoresis. Preliminary results did not reveal any difference with normal.

Functional And Biochemical Studies On A Case Of Dysfibrinogenemia (Fibrinogen Genova)