A Polymorphism in the IL-5 Gene is Associated with Inhibitor Development in Severe Hemophilia A Patients

Abstract

Objective: A severe complication in the replacement therapy of hemophilia A (HA) patients is the development of alloantibodies (inhibitors) against factor VIII, which neutralizes the substituted factor. The primary genetic risk factors influencing the development of inhibitors are F8 gene mutations. Interleukins and cytokines that are involved in the regulation of B-lymphocyte development are other possible targets as genetic risk factors. This study assesses the possible involvement of 9 selected single nucleotide gene polymorphisms (SNPs) with interleukins (IL-4, IL-5, and IL-10), transforming growth factor beta 1 (TGF-beta 1), and interferon gamma (IFN-gamma) in inhibitor development in severely affected HA patients carrying a null mutation in the F8 gene.