title: Factor VIII mutations and inhibitor formation in a southern Brazilian population.
abstract: 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.
authors: Genetics Department, Biosciences Institute, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil *Clévia Rosset and Roberta P. Gorziza contributed equally to the writing of this article.
authors: Clévia
authors: C
authors: Rosset
authors: Roberta P
authors: RP
authors: Gorziza
authors: Mariana R
authors: MR
authors: Botton
authors: Francisco M
authors: FM
authors: Salzano
authors: Eliane
authors: E
authors: Bandinelli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D005169:Factor VIII / Q000235:genetics* / Q000276:immunology*; D005260:Female; D020022:Genetic Predisposition to Disease; D006467:Hemophilia A / Q000235:genetics* / Q000276:immunology*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult
chemical_list: D005169:Factor VIII