Disease-causing alterations within the F8 gene were identified in 177 hemophilia A
families of Portuguese origin. The spectrum of non-inversion F8 mutations in 101 families
included 67 different alterations, namely: 36 missense, 8 nonsense and 4 splice
site mutations, as well as 19 insertions/deletions. Thirty-four of these mutations are
novel. Molecular modeling allowed prediction of the conformational changes introduced
by selected amino acid substitutions and their correlation with the patients' phenotypes.
The relatively frequent, population-specific, missense mutations together with de
novo alterations can lead to significant differences in the spectrum of F8 mutations
among different populationsThis study was partially supported
by Fundação para a Ciência e a Tecnologia: research grant
PBIC/C/SAU/1588/92 and Programa de Financiamento Plurianual
do CIGM