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Poster Networking

Inherited Bleeding Disorders and Inhibitors

PB0241 - Biological aging in persons with hemophilia is associated with severity of hemophilia

Sunday, June 23, 2024
13:45 – 14:45 ICT
Room: Exhibition Hall

    Co-Author(s)

  • MT

    Marina Trappl

    Master Student
    Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna
    Vienna, Wien, Austria

    • Presenting Author(s)

  • Rafaela Vostatek, MSc

    PhD-Student
    Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna
    Vienna, Wien, Austria

    • Co-Author(s)

  • Daniel Kraemmer, MD

    PhD Student
    Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna
    Vienna, Wien, Austria

  • PH

    Philipp Hohensinner

    Principal Investigator
    Medical University Vienna, Center for Biomedical Research and Translational Surgery
    Vienna, Wien, Austria

  • Ingrid Pabinger

    Professor
    Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna
    Vienna, Wien, Austria

  • Cihan Ay, MD

    Professor
    Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna
    Vienna, Wien, Austria

Background: Hemophilia is a rare inherited X-linked bleeding disorder caused by mutations in the factor VIII or IX gene (hemophilia A or B). The hallmark of hemophilia is bleeding into joints, leading to arthropathy which progresses with increasing age.

Aims: Our aim was to investigate the role of biological aging in person with hemophilia (PWH) and its association with severity of hemophilia.

Methods: We performed a cross-sectional study at our hemophilia treatment center, and patients’ blood was collected and stored in the biobank of our institution. DNA from whole blood was isolated and analyzed for average telomere length and human mtDNA copy number with a qPCR-based method. We compared telomere length and mtDNA copy number between severe and non-severe hemophilia using linear regression, adjusting for chronological age.

Results: We included 97 PWH (median age: 35 [IQR 24.0-46.5] years; 86 hemophilia A and 11 hemophilia B), of whom 64 (66%) had severe, 11 (11%) moderate, and 22 (23%) mild hemophilia. Telomere length (median: 6.31 [IQR: 4.82–8.16] kb) and chronological age showed a weak negative correlation (Spearman’s ρ = -0.27 [95% CI -0.45, -0.06]). The median telomere length was 5.28 (IQR 4.02–6.81) kb in mild, 5.35 (IQR 3.88–6.69) kb in moderate, and 6.65 (IQR 5.57–8.82) kb in severe PWH (Figure 1A). When adjusting for chronological age, severe hemophilia was associated with a 1.58 (95% CI 0.49, 2.66) kb higher mean telomere length compared to non-severe hemophilia (Figure 1A). Linear regression of mtDNA copy number (median: 255.7 [IQR: 219.0 – 308.1]; Figure 1B) on age and severity remained inconclusive.

Conclusion(s): We observed a weak correlation of telomere length with chronological age in PWH. Interestingly, age-adjusted mean telomere length was significantly shorter in patients with mild and moderate hemophilia compared to those with severe hemophilia. Further investigations are needed to better characterize biological aging in hemophilia.