Detection of a novel variant in the canine F8 gene causative for haemophilia A
In the present case, a female dog with a mild form of haemophilia A is described. Although it had a markedly increased bleeding tendency, bleeding episodes have so far not been fatal. To identify a causative variant in the F8 gene, whole-genome sequencing was performed on the affected dog. A previously unreported homozygous missense variant was identified in exon 11 of the F8 gene, resulting in an amino acid substitution within the A2 domain of factor VIII– a region critical for the stability and function of the coagulation factor.