The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events.
Yohann JourdyMathilde FrétignyFanny LassalleDavid LillicrapClaude NégrierChristine VinciguerraPublished in: Journal of thrombosis and haemostasis : JTH (2020)
We demonstrated that the poly(T)-track in F8 intron 13 is a deletion hotspot. We recommend that deletions in this region should be specifically investigated in all genetically unresolved mild HA patients.