Haemophilia A is a mutationally heterogeneous disorder with approximately 1,000 unique mutations of the Factor VIII (F8) gene recorded to date . With the exception of the intron 22 inversion mutation, which occurs in ~45% of individuals with clinically severe disease, recurrent mutations causing haemophilia A are rare. This reflects a high rate of spontaneous mutation within the F8 gene generally resulting in private mutations within individual kindreds. We have identified a recurrent F8 gene mutation in Irish haemophilia A patients and have used haplotype analysis to investigate its origins.
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