Methylation analysis of the promoter region and intron 1 of the factor VIII gene in haemophilia A patients

SummaryHaemophilia A is the most common X-linked inherited coagulation disorder caused by a deficiency of the factor VIII protein (FVIII). A plethora of different mutations in the factor VIII gene (F8) have been identified as causative for this bleeding disease including a few promoter mutations. However, in approximately 2–5% of all haemophilic patients, the causal mutation still remains unknown. To our knowledge, epigenetic abnormalities in regulatory regions of the F8 gene have not yet been implicated in the disease pathogenesis.We therefore developed bisulfite pyrosequencing assays to screen patients with un…