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.
Other articles featuring Kathleen Freson on Hemostasis Today.
-
Oct 9, 2026, 16:23David Boone: Distinguishing Stroke Prevention from Rhythm Control in Atrial Fibrillation
-
Oct 9, 2026, 15:27Mohamed Hegazi: Geostatistical Modelling Maps Global β-Thalassaemia Carrier Prevalence
-
Oct 9, 2026, 15:15Maha Othman: Uncovering the Consensus on TXA in TBI – Call for Collaboration on a Landmark Umbrella Review
-
Oct 9, 2026, 15:07Daniel D. Han: How Inhalation Product Exposure Impairs Cardiac and Platelet Recovery After MI
-
Oct 9, 2026, 14:58William Toole: How Ultrasound-Guided PRP Therapy Relieves Joint and Tendon Pain
-
Oct 9, 2026, 14:50Shayan Mohammadmoradi: In Corpus Christi for the 20th Midwest Platelet Conference
-
Oct 9, 2026, 14:37Tariq Tramboo: High Platelet Concentrate for Osteoarthritis Knee – Recent Meta-Analyses
-
Oct 9, 2026, 14:26Yousma Khan: Hematology Series – Beyond RBCs, WBCs and Platelets
-
Oct 9, 2026, 14:13Jesus Ardila Novoa: Why the WHO’s Historic Essential Medicines List Decision Is Just the Beginning