Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

ConclusionThis novelF8 deletion as a cause of haemophilia A did not result in generation of inhibitory antibodies to Factor VIII treatment and may have impact on (prenatal) diagnosis, genetic counselling, and treatment decisions in the affected family as well as in other families diagnosed with thisF8 mutation. Finally, this novel mutation should be included in the panel of known genetic variants inF8 when searching for the genetic etiology in patients suspected of HEMA.
Source: BMC Hematology - Category: Hematology Source Type: research