An Accurate, Simple, and Inexpensive Assay to Diagnose F8Gene Inversion Mutations in Hemophilia a Patients and Carriers

The most frequent mutations resulting in hemophilia A are an intron 22 or intron 1 F8gene inversion, which together result in ~50% of severe hemophilia A cases. We report simple and accurate RNA- and DNA-based assays to detect these mutations in patients and carrier mothers. They do not require specialized equipment or expensive reagents, and therefore they may provide useful and economic protocols that could be standardized for central laboratory testing.