Abdul Mannan on Factor VIII Aurora: First Natural Gain-of-Function Mutation in Haemophilia A
Abdul Mannan, Consultant Haematologist at Betsi Cadwaladr University Health Board, shared on LinkedIn:
“A fascinating case report on Factor VIII Aurora – the first ever natural gain-of-function mutation in Factor VIII!
This groundbreaking discovery from Aurora, Colorado reveals a novel mutation (p.Arg590Ser) that dramatically increases Factor VIII activity to 300-900% of normal and causes severe resistance to protein C regulation.
Just as Factor IX Padua revolutionised haemophilia B treatment, this natural ‘supercharged’ Factor VIII variant could transform future gene therapy approaches for haemophilia A.
The case highlights the importance of thorough investigation in young patients with unexplained thrombosis – sometimes the most puzzling cases lead to the most significant breakthroughs!”
Check here for more.
Read the full case here.
More insights on Hemostasis Today.
-
Dec 18, 2025, 23:14The “Normal” FVIII Level Trap in Females with Haemophilia
-
Dec 18, 2025, 23:11WFH Expands Multidisciplinary Bleeding Disorder Training in Vietnam
-
Dec 18, 2025, 17:13Daria Camilli on EuroBloodNet and EHC Collaboration for Bleeding Disorders
-
Dec 18, 2025, 16:50Marie Cambot on Innovhem’s Quantification of The HbF/HbS Ratio for SCD
-
Dec 18, 2025, 16:26Yogesh Rathod on Hematological Issues and ICU
-
Dec 18, 2025, 16:09Carlos Doti: I’m Reminded Why ASH is Such a Powerful Close to The Year
-
Dec 18, 2025, 15:23Michael Hadley: Well-Timed ACC Statement Just Out in JACC Journals
-
Dec 18, 2025, 15:12Wolfgang Miesbach on Insights from Guy Young’s ASH2025 Session on Next-Generation Gene Therapy
-
Dec 18, 2025, 14:15Plasma-Derived Therapy for Hemophilia in The Updated European Medicines Agency’s Union List