Hemophilia B Leyden: characteristics and natural history in the International Pediatric Network of Hemophilia Management Registry
HB Leyden is caused by the variant c.-35G>A in >50% of cases in whom a FIX increase occurs at very young ages, which is associated with low bleeding rates. This contrasts with the phenotype of individuals with HB Leyden due to a non-c.-35G>A variant. Our study may thus help guide clinical decision-making in this rare HB entity.
Authors
- Torben Stamm Mikkelsen (ORCID: https://orcid.org/0000-0001-8188-2188)
- Nadine G. Andersson (ORCID: https://orcid.org/0000-0001-6058-8350)
- Veerle Labarque (ORCID: https://orcid.org/0000-0002-5052-9274)
- Beatrice Nolan (ORCID: https://orcid.org/0000-0003-0145-4736)
- Manuel Carção (ORCID: https://orcid.org/0000-0001-5350-1763)
- Mutlu Kartal‐Kaess (ORCID: https://orcid.org/0000-0002-2713-3300)
- Rolf Ljung (ORCID: https://orcid.org/0000-0003-3999-8747)
- Roseline d’Oiron (ORCID: https://orcid.org/0000-0002-4843-7805)
- Marloes de Kovel (ORCID: https://orcid.org/0000-0003-3521-1863)
- Fernando Pinto
Institutions
- University of Bern (CH)
- Inserm (FR)
- Lund University (SE)
- Université Paris-Saclay (FR)
- Royal Hospital for Children (GB)
- University Hospital of Bern (CH)
- Hospital for Sick Children (CA)
- Aarhus University Hospital (DK)
- Children's Health Ireland at Crumlin (IE)
- Skåne University Hospital (SE)
- Bicêtre Hospital (FR)
- KU Leuven (BE)
Publication Details
- Journal
- Journal of Thrombosis and Haemostasis
- Published
- 2024-12-30
- DOI
- https://doi.org/10.1016/j.jtha.2024.12.020
- Citations
- 2
- Primary Topic
- Hemophilia Treatment and Research
- Type
- article
- Field-Weighted Citation Impact
- 0.91