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.
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