Subjects
All patients with either hemophilia A or B, registered in the PedNet
registry by 1 January 2018 (n=1967) were included. Data on patients’
demographics, type and severity of hemophilia, and family history of
hemophilia were collected. Reports on genotyping collected from each
single center were then classified uniformly by a central genetic
laboratory according to the recommendations of the Human Genome
Variation Society (HGVS). Mutation nomenclature was based on the
following transcripts: NM_000132.3 (F8) and NM_000133.3 (F9) and
GRCh38 genome build. All mutations were cross-checked with the CDC-based
databases CHAMPS and CHBMPS, the EAHAD database and the HGMD (Human
Genome Mutation database) and a literature search on 1 January 2020, and
only mutations not described in these databases or published in a
scientific journal searchable on Medline were included in this
manuscript; these are referred to as ‘new variants’.