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Fibrinogen Alès: a homozygous case of dysfibrinogenemia (gamma-Asp(330)-->Val) characterized by a defective fibrin polymerization site "a".

Blood - 15 Nov 2000

Lounes K C, Soria C, Mirshahi S S, Desvignes P, Mirshahi M, Bertrand O, Bonnet P, Koopman J, Soria J

Abstract excerpt

Congenital homozygous dysfibrinogenemia was diagnosed in a man with a history of 2 thrombotic strokes before age 30. His hemostatic profile was characterized by a dramatically prolonged plasma thrombin clotting time, and no clotting was observed with reptilase. Complete clotting of the abnormal fibrinogen occurred after a prolonged incubation of plasma with thrombin. The release of fibrinopeptides A and B by...

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PMID: 11071644

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