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Towards Personalized Treatment in Haemophilia: The Role of Genetic Factors in Iron and Heme Control to Identify Patients at Risk for Haemophilic Arthropathy - PubMed

  • ️Mon Jan 01 2024

Towards Personalized Treatment in Haemophilia: The Role of Genetic Factors in Iron and Heme Control to Identify Patients at Risk for Haemophilic Arthropathy

Lize F D van Vulpen et al. J Pers Med. 2024.

Abstract

The treatment landscape for haemophilia is changing rapidly, creating opportunities for personalized treatment. As major morbidity is still caused by haemophilic arthropathy, understanding the factors affecting joint damage and joint damage progression might lead to more individualized treatment regimens. We investigated the association of HFE mutations or HMOX1 polymorphisms affecting iron/heme handling with radiographic joint damage in 252 haemophilia patients (severe and moderate). Although iron levels and transferrin saturation were significantly increased in the 95 patients with an HFE mutation, neither carrying this mutation nor the HMOX1 polymorphism was associated with radiographic joint damage, and the same was true after adjustment for well-known factors associated with arthropathy. In conclusion, this study does not support the hypothesis that HFE mutations or HMOX1 polymorphisms can be used to predict the development of haemophilic arthropathy.

Keywords: HFE; HMOX1; arthropathy; haemophilia; personalized medicine.

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Conflict of interest statement

L.F.D.v.V. has received research grants form NovoNordisk, CSL Behring, and Grifols and performed consultancy for NovoNordisk and CSL Behring. WF has received research grants from NovoNordisk and Pfizer. KF has acted as a consultant and participated in expert groups for Bayer, Biogen, CSL Behring, NovoNordisk, and Sobi, has received research grants from Bayer, NovoNordisk, and Pfizer, has given invited educational lectures for Bayer, NovoNordisk, and Pfizer, and has received travel support from Sobi and Bayer. REGS has received research grants or speaker fees from Bayer, CSL Behring, NovoNordisk, Pfizer, Sanquin, Shire, and Sobi. All fees were paid to the institution. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.

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References

    1. Arruda V.R., Doshi B.S., Samelson-Jones B.J. Novel approaches to hemophilia therapy: Successes and challenges. Blood. 2017;130:2251–2256. doi: 10.1182/blood-2017-08-742312. - DOI - PMC - PubMed
    1. Mannucci P.M. Hemophilia treatment innovation: 50 years of progress and more to come. J. Thromb. Haemost. 2023;21:403–412. doi: 10.1016/j.jtha.2022.12.029. - DOI - PubMed
    1. Jayandharan G.R., Srivastava A. The phenotypic heterogeneity of severe hemophilia. Semin. Thromb. Hemost. 2008;34:128–141. doi: 10.1055/s-2008-1066024. - DOI - PubMed
    1. Chantrain V.A., Foubert A., Meeus M., Lambert C., Lobet S., Maes P., Fransen E., Durnez L., Hermans C., Roussel N.A. Joint status, pain and quality of life in elderly people with haemophilia: A case-control study. Haemophilia. 2023;29:1621–1632. doi: 10.1111/hae.14890. - DOI - PubMed
    1. Manco-Johnson M.J., Abshire T.C., Shapiro A.D., Riske B., Hacker M.R., Kilcoyne R., Ingram J.D., Manco-Johnson M.L., Funk S., Jacobson L., et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N. Engl. J. Med. 2007;357:535–544. doi: 10.1056/NEJMoa067659. - DOI - PubMed