Samantha J Montague, Joshua Price, Katherine Pennycott, Natasha J Pavey, Eleyna M Martin, Isaac Thirlwell, Samuel Kemble, Catarina Monteiro, Lily Redmond-Motteram, Natalie Lawson, Katherine Reynolds, Carl Fratter, Patricia Bignell, Anouk Groenheide, Dana Huskens, Bas de Laat, Jeremy A Pike, Natalie S Poulter, Steven G Thomas, Gillian C Lowe, Jonathan Lancashire, Paul Harrison, Neil V Morgan
BACKGROUND: Scott syndrome is a mild platelet-type bleeding disorder, first described in 1979, with only 3 unrelated families identified through defective phosphatidylserine (PS) exposure and confirmed by sequencing. The syndrome is distinguished by impaired surface exposure of procoagulant PS on platelets after stimulation. To date, platelet function and thrombin generation in this condition has not been extensively characterised. OBJECTIVES: Genetic and functional studies were undertaken in a consanguineous family with a history of excessive bleeding of unknown cause...
March 14, 2024: Journal of Thrombosis and Haemostasis: JTH