Genetic markers associated with complications of hemophilia: A scoping review

Abstract

Introduction: Complications of hemophilia, such as hemophilic arthropathies and the development of inhibitors against coagulation factor, have a great impact on the quality of life of the patients. The study of factors associated with these complications may contribute to their prevention. Objective: This study conducts a scoping review that seeks to identify and discuss genetic polymorphisms associated with complications of hemophilia A and hemophilia B. Methods: The methodology was conducted according to PRISMA Extension for Scoping Reviews (PRISMA-ScR) and PubMed was used as database to identify original articles published between 2011 and 2021, which associated genetic polymorphisms with complications of hemophilia. Results: 23 articles were selected, of which 22 of them identified polymorphisms associated with higher or lower risk of developing inhibitors in 24 genes and in one article identified polymorphisms associated with the higher risk of developing hemophilic arthropathy in 18 genes. In both cases, the genes involved were mostly associated with modulation of the immune and inflammatory response. Conclusion: Many polymorphisms in genes of coagulation factors and genes related to the immune and inflammatory response have been associated with the risk of developing inhibitors and hemophilic arthropathies and are possible molecular markers for treatment-related complications. However, there are few studies regarding the association of genetic polymorphisms and musculoskeletal complications.