Large deletions in the <i>F8</i> gene predict immune tolerance induction failure in people with severe hemophilia A.

ABSTRACT:

Background

Immune tolerance induction (ITI) is the only treatment to eradicate inhibitors in people with severe hemophilia A (SHA). Successful ITI restores factor VIII (FVIII) tolerance. ITI is demanding and successful in approximately 70% of people.

Objectives

Identifying predictors of ITI outcome is essential to guide clinical decision making. We aimed to identify genetic predictors of ITI success in people with SHA and inhibitors who underwent ITI.

Methods

This observational multicenter study included people with SHA who underwent ITI, between 2015 and 2023. Clinical and patient data, including FVIII gene (F8) mutation type, and DNA samples were collected. Successful ITI was defined by a negative inhibitor titer and an adequate response to FVIII concentrates

SUBMITTER: Oomen I 

PROVIDER: S-EPMC12616064 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature