Mutation type Factor 8 gene % reported1 Factor 9 gene % reported2
Missense /nonsense 60 64
Splicing 6.5 9
Regulatory 0.5 2.5
Small deletions 16.5 13
Small insertions 5 3.5
Small indels 1 1
Gross deletions/duplications 9 5.5
Gross insertions 1 0.5
Complex rearrangements 0.5 1
1HGMD®, Human Gene Mutation Database.
http://www.hgmd.cf.ac.uk/ac/gene.php?gene=F8 . This frequency distribution excludes the common inversion involving intron 1 and 22 seen in 45-50% of patients with severe hemophilia A .
2
HGMD®, Human Gene Mutation Database.
http://www.hgmd.cf.ac.uk/ac/gene.php?gene=F9
Table 2: Frequency of disease-causing mutations reported in factor 8 and factor 9 genes