ArticleResearch and practice in thrombosis and haemostasis2025
Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.
Article in Research and practice in thrombosis and haemostasis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.
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Corrections and comments
- Erratum issued
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22 authors.
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Abstract
Background: Hemophilia A (HA) is an X-linked disorder due to deleterious variants in the factor VIII (FVIII) gene ( Objectives: We aimed to evaluate the spectrum of Methods: We performed genotyping of intron 1 and intron 22 inversions (Inv22) and Results: We included 265 people with severe hemophilia A. We identified deleterious variants in 98.1% of them, totaling 97 unique mutations, of which 32 (33.0%) are novel. Inv22, nonsense, small insertion/deletion, large deletion, and missense variants accounted for 48.3%, 14.7%, 11.3%, 9.8%, and 7.5% of the variants identified. Variants clustered in the FVIII A3 domain were more often associated with people with HA with inhibitors (INH+) than those without inhibitors (INH-) (21.0% vs 0.0%; Conclusion: These findings highlight the role of
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