Article
Prothrombotic PROC variant rebalancing hemostasis in severe hemophilia A with attenuated bleeding risk.
Journal of thrombosis and haemostasis : JTH - 1 Jun 2026
Ramanan Radha, Van Thillo Quentin, Lavend'homme Renaud, Van Laer Christine, Thys Chantal, De Wispelaere Koenraad, Baert Sarissa, Kint Cyrielle, Verhamme Peter, Vanassche Thomas, McFadyen James D, Perkins Andrew C, Tran Huyen A, Labarque Veerle, Jacquemin Marc, Freson Kathleen
Abstract excerpt
BACKGROUND: Severe hemophilia A (HA), defined by a clotting factor [F]VIII level of <1%, leads to a severe bleeding tendency. A pathogenic F8 variant p.His300Lysfs∗41 accounted for <1% FVIII levels in a patient with HA; however, he exhibited a discordantly mild-to-moderate bleeding phenotype. OBJECTIVES: To identify and characterize the hemostatic impact of co-inherited genetic modifiers in a HA patient...
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