Kathleen Freson: Protein C Deficiency as a Genetic Modifier of Severe Haemophilia A
Kathleen Freson, Professor at KU Leuven, Chair of the International Society on Thrombosis and Haemostasis (ISTH), shared a post on LinkedIn:
“In a patient with severe Haemophilia A but unexpectedly mild bleeding, we identified a heterozygous pathogenic variant in PROC causing partial protein C deficiency, which improved thrombin generation through a natural Rebalancing Effect on haemostasis.
This work highlights how genetic modifiers can attenuate disease severity and multigene panel testing can identify such natural rebalancing mechanisms!”
Title: Prothrombotic PROC variant rebalancing haemostasis in severe haemophilia 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
Read the Full Article on Journal of Thrombosis and Haemostasis.
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