Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors
These findings highlight the role of <i>F8</i> genotype and specific FVIII domains in inhibitor development in an admixed population of people with HA. This could help engineer therapeutic approaches targeting FVIII molecules with reduced immunogenicity.
Authors
- Claúdia Santos Lorenzato (ORCID: https://orcid.org/0000-0001-6662-4623)
- Leina Yukari Etto (ORCID: https://orcid.org/0000-0002-3964-356X)
- Maíse Moreira Dias (ORCID: https://orcid.org/0000-0002-0457-7099)
- Maria do Rosário Ferraz Roberti (ORCID: https://orcid.org/0000-0001-9453-2128)
- T Anegawa (ORCID: https://orcid.org/0000-0001-8312-3118)
- Ricardo Mesquita Camelo (ORCID: https://orcid.org/0000-0001-9025-0289)
- Daniele Campos Fontes Neves (ORCID: https://orcid.org/0000-0003-2924-807X)
- Andrea Gonçalves de Oliveira (ORCID: https://orcid.org/0000-0001-7727-5000)
- Fábia Michelle Rodrigues de Araújo Callado (ORCID: https://orcid.org/0000-0001-6328-0140)
- M. Cerqueira (ORCID: https://orcid.org/0000-0001-6681-8911)
- Vivian Karla Brognoli Franco (ORCID: https://orcid.org/0000-0002-0297-1455)
- Rosângela de Albuquerque Ribeiro (ORCID: https://orcid.org/0000-0002-3637-9791)
- Luciana W. Zuccherato (ORCID: https://orcid.org/0000-0002-0860-6571)
- Renan P. Souza (ORCID: https://orcid.org/0000-0002-9479-4432)
- Letícia Lemos Jardim (ORCID: https://orcid.org/0000-0003-3358-0075)
- Márcio Antônio Portugal Santana (ORCID: https://orcid.org/0009-0001-0658-951X)
- Maria Aline Ferreira de Cerqueira (ORCID: https://orcid.org/0000-0001-6593-5091)
- Daniel Gonçalves Chaves (ORCID: https://orcid.org/0000-0001-7431-3884)
- Andrea Aparecida Garcia (ORCID: https://orcid.org/0000-0002-8616-4668)
- Suely Meireles Rezende (ORCID: https://orcid.org/0000-0002-3083-7093)
- Ieda Solange de Souza Pinto
Institutions
- Universidade Federal de Minas Gerais (BR)
- Universidade Federal de Rondônia (BR)
- Universidade Estadual de Londrina (BR)
- Faculdade de Medicina de São José do Rio Preto (BR)
- Instituto Federal de Educação, Ciência e Tecnologia de Minas Gerais (BR)
- California State University, Northridge (US)
- Universidade Federal da Paraíba (BR)
- Universidade Federal do Ceará (BR)
- Hemorio (BR)
- Fundação Hemopa (BR)
- Fundação Hospitalar de Hematologia e Hemoterapia do Amazonas (BR)
- Fundação Centro de Hematologia e Hemoterapia de Minas Gerais (BR)
- Centro Universitário de Rio Preto (BR)
- Universidade Federal do Pará (BR)
- Universidade Federal de Goiás (BR)
Publication Details
- Journal
- Research and Practice in Thrombosis and Haemostasis
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1016/j.rpth.2025.103006
- Primary Topic
- Hemophilia Treatment and Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00