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.