Journal of the Chinese Medical Association : JCMA
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Hemophilia A is caused by mutations in the gene for coagulation factor VIII. Recently, it has been reported that about half of the patients with severe hemophilia A have a large genomic inversion of the factor VIII gene. We tried to use a rapid method to detect this important mutation in the Chinese hemophiliacs. ⋯ Intron 22 inversion of the factor VIII gene is the major genetic mutation for severe hemophilia A in Taiwan. There is a high probability of de novo mutation for this genetic change. The results were consistent with the concept that intron 22 inversion will always result in severe deficiency of factor VIII. Rapid detection of this common mutation can helpfully guide the direction of molecular study in genetic counselling.