A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect
pmid: 18179574
A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect
Haemophilia A is a mutationally heterogeneous disorder with approximately 1,000 unique mutations of the Factor VIII (F8) gene recorded to date [1]. 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.
- St. James's Hospital Ireland
- St. James's Hospital Ireland
- Belfast City Hospital United Kingdom
- Queen's University Belfast United Kingdom
- Belfast Health and Social Care Trust United Kingdom
Male, Factor VIII, Mutation, Missense, 610, Hemophilia A, Founder Effect, White People, name=Hematology, /dk/atira/pure/subjectarea/asjc/2700/2720, Haplotypes, 616, Humans, Ireland
Male, Factor VIII, Mutation, Missense, 610, Hemophilia A, Founder Effect, White People, name=Hematology, /dk/atira/pure/subjectarea/asjc/2700/2720, Haplotypes, 616, Humans, Ireland
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