Co-Inherited PROC Variant and Its Effect on Bleeding Severity in Hemophilia A – JTH
Journal of Thrombosis and Haemostasis (JTH) shared on LinkedIn about a recent article by Radha Ramanan et al, adding:
”Prothrombotic PROC Variant Rebalancing Hemostasis in Severe Hemophilia A with Attenuated Bleeding Risk
This study characterizes a heterozygous PROC variant (p.Trp414Arg) causing partial protein C deficiency in a severe hemophilia A patient, demonstrating that this co-inherited prothrombotic modifier enhances thrombin generation and naturally rebalances hemostasis – resulting in a discordantly mild bleeding phenotype.”
Title: Prothrombotic PROC variant rebalancing hemostasis in severe hemophilia A with attenuated bleeding risk
Authors: Radha Ramanan, Quentin Van Thillo, Renaud Lavend’homme, Christine Van Laer, Chantal Thys, Koenraad De Wispelaere, Sarissa Baert, Cyrielle Kint, Peter Verhamme, Thomas Vanassche, James D. McFadyen, Andrew C. Perkins, Huyen A. Tran, Veerle Labarque, Marc Jacquemin, Kathleen Freson
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