Factor VIII mutations and inhibitor formation in a southern Brazilian population

A total of 110 patients with severe (n = 43), moderate (n = 15) or mild (n = 52) haemophilia A were studied in relation to their F8 gene mutation and inhibitor status. Nineteen percentage of them had anti-factor VIII antibodies. Significant heterogeneity in inhibitor prevalence considering the location of the patients' mutation was found, with higher frequencies in carriers of mutations in the C1 and B domains. Twelve specific mutations showed associations with inhibitor formation, seven deletions, two nonsense, two insertions and one missense changes. Bioinformatic analysis of the missense mutation confirmed the formation of a B-cell epitope in the protein. This information is important for comparative purposes with series of other ethnic constitutions, as well as for individual prevention of this serious clinical problem in the patient population.