Results
Overall, 1967 patients were included in the study. Of those, 1681
patients had a report on genotyping in the Registry (85.5%). Out of
1681 patients with hemophilia A or B, with all severities, 106 patients
had 97 new variants, of which 90 were likely to cause hemophilia: 73
hemophilia A and 17 hemophilia B; five variants in F8 and two
variants in F9 gene were classified as non-disease causing afterin silico analysis (table 1 and table 8). Of the 90 new
disease-causing variants, 82 represent new unique variants present in
only one patient. Eight variants were present in ≥ two patients; all
were found in patients who were related family members with hemophilia
(e.g. brother, cousin; table 12). As expected, the majority of the new
variants found were located in exon 14 for hemophilia A and in exon 8
for hemophilia B.