A deletion involving intron 13 and exon 14 of factor VIII gene in a haemophiliac with anti-factor VIII antibody

Summary A deletion mutation in the factor VIII gene of a severe haemophiliac patient was found along with a high level of factor VIII inhibitor in the blood plasma among seventy Japanese haemophilia A patients. The 6 kbp long deletion involved a region from somewhere between Pst I and Sst I sites at nucleotide positions 2659 and 2991 of exon 14 and intron 13, respectively (nucleotide positions were defined as in Wood et al. , 1984).