Luciana Werneck Zuccherato and Colleagues on A3 domain of FVIII in Severe Hemophilia A
RPTH Journal shared on LinkedIn:
”This new study sequenced 265 individuals with severe hemophilia A from an admixed population and found 97 unique F8 mutations, 33% were novel.
Intron 22 inversions increased inhibitor risk nearly 5-fold, while missense variants were protective.
Mutations clustered differently by inhibitor status (A3 vs A1 domains), underscoring how F8 genotype shapes immune response.
These insights may guide development of less immunogenic FVIII therapies.”
Read the full article in RPTH.
Article: Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors
Authors: Luciana Werneck Zuccherato, Renan Pedra Souza, Ricardo Mesquita Camelo, Márcio Antônio Portugal Santana, Maíse Moreira Dias, Letícia Lemos Jardim, Andrea Gonçalves de Oliveira, Claudia Santos Lorenzato, Monica Hermida Cerqueira, Vivian Karla Brognoli Franco, Rosangela de Albuquerque Ribeiro, Leina Yukari Etto, Maria do Rosario Ferraz Roberti, Fábia Michelle Rodrigues de Araújo Callado, Maria Aline Ferreira de Cerqueira, Ieda Solange de Souza Pinto, Andrea Aparecida Garcia, Tania Hissa Anegawa, Daniele Campos Fontes Neves, Daniel Gonçalves Chaves, Suely Meireles Rezende, on behalf of the HEMFIL and the Brazilian Immune Tolerance (BrazIT) Study
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