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Sep 14, 2025, 06:39

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.

Abdul Mannan Factor VIII Factor VIII Aurora gain-of-function mutation haemophilia A Headlines Health Hematology Hemostasis Hemostasis Today Medicine protein C thrombosis unexplained thrombosis
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