Abstract Number: PB0501
Meeting: ISTH 2020 Congress
Background: The Centers for Disease Control and Prevention (CDC) Hemophilia A Mutation Project (CHAMP) F8 Mutation List was established in 2011 to provide a resource for researchers and clinicians to identify previously-reported hemophilia A (HA)-causing F8 variants and their characteristics. CHAMP, available in Excel format at http://www.cdc.gov/hemophiliamutations, has recently been updated.
Aims: To describe the variants in F8 reported to cause HA in the literature and in publicly-available databases through 2019.
Methods: Variants were collected from 325 publications and databases identified by systematic literature review. Each was reviewed and uniquely identified using the Human Genome Variation Society nomenclature for coding DNA and predicted protein changes, as well as traditional nomenclature based on the mature, processed protein. Each was given a single listing, including severity classified by ISTH criteria from factor levels provided, reported severity, and inhibitor history with links to original publications. Known benign variants, multiple possible causative variants in a single patient, and those reported only in women were excluded.
Results: Preliminary analysis showed a total of 3782 variants, an increase of 1245 (49%) over the first CHAMP publication in 2013. Proportions of variant types reported (Figure 1) were largely unchanged, as were the proportions of each type reported with inhibitors. Almost one-half of variants were missense. Inhibitors were reported most often with large structural changes (60.5%) (Figure 2). CHAMP has 770 more non-benign variants listed than the next largest F8 variant database and can be used as a source for variant curation efforts. As it contains only the original report of each variant, it cannot be used to describe variant frequencies in the HA population.
Conclusions: The number of variants reported to cause HA continues to expand without significant change in their characteristics. CHAMP currently provides the most complete list of these variants.
To cite this abstract in AMA style:Payne AB, Miller CH, Bean CJ. The CDC Hemophilia A Mutation Project (CHAMP) F8 Mutation List: 2020 Update [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/the-cdc-hemophilia-a-mutation-project-champ-f8-mutation-list-2020-update/. Accessed January 26, 2022.
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