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Haematologica, Vol 91, Issue 3, 431-432
Copyright © 2006 by Ferrata Storti Foundation

Case Reports

Prothrombin Suresnes: a case of homozygous F299V mutation responsible for hypodysprothrombinemia

D Francois, C Chevreaud, D Vignon, and P de Mazancourt

A patient with a severe prothrombin deficiency and a hemorrhagic diathesis was found to have positive cross-reactive material in plasma and a homozygous F299V mutation (F7V in the A chain). This mutation reinforces the previous conclusion that the A chain affects the geometry of the catalytic triad. Marked prolongation of the Taipan venom and Russell venom clotting times also demonstrated a defective activation mechanism and a defective interaction with factor Xa.




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Copyright © 2006 by the Ferrata Storti Foundation.