Which is the most common FVIII mutation in patients with a severe phenotype (occurring in almost 50% of patients)?
A) Gross deletion of entire gene locus
B) Point mutation involving the thrombin cleavage site
C) Inversion mutation of intron 22
D) Point mutation involving the site of VWF attachment

Question

Quizplus · Accepted Answer

Inversion mutation of intron 22 is the most common FVIII mutation in patients with a severe phenotype, occurring in almost 50% of patients. This inversion leads to a disrupted FVIII gene structure and causes severe hemophilia A due to the reduced level of functional FVIII.

Which Is the Most Common FVIII Mutation in Patients with a Severe