Hemophilia is associated with accelerated biological aging
Marina Trappl,
Rafaela Vostatek,
Manuel Salzmann,
Daniel Kraemmer,
Johanna Gebhart,
Philipp Hohensinner,
Ingrid Pabinger,
Cihan Ay
Affiliations
Marina Trappl
Division of Haematology and Haemostaseology, Department of Medicine I, Medical University of Vienna; Vienna
Rafaela Vostatek
Division of Haematology and Haemostaseology, Department of Medicine I, Medical University of Vienna; Vienna
Manuel Salzmann
Ludwig Boltzmann Institute for Cardiovascular Research, Medical University of Vienna, Vienna, Austria; Department of Internal Medicine II, Division of Cardiology, Medical University of Vienna, Vienna
Daniel Kraemmer
Division of Haematology and Haemostaseology, Department of Medicine I, Medical University of Vienna; Vienna
Johanna Gebhart
Division of Haematology and Haemostaseology, Department of Medicine I, Medical University of Vienna; Vienna
Philipp Hohensinner
Ludwig Boltzmann Institute for Cardiovascular Research, Medical University of Vienna, Vienna, Austria; Center for Biomedical Research, Medical University of Vienna, Vienna
Ingrid Pabinger
Division of Haematology and Haemostaseology, Department of Medicine I, Medical University of Vienna; Vienna
Cihan Ay
Division of Haematology and Haemostaseology, Department of Medicine I, Medical University of Vienna; Vienna
Hemophilia is a rare X-linked bleeding disorder caused by mutations in the F8 or F9 gene (hemophilia A or B), leading to deficient factor VIII or IX proteins, respectively. Hemophilia-related complications caused by bleeding into the joints (the hallmark of hemophilia) and age-related comorbidities occur frequently and impact the functionality and quality of life of persons with hemophilia (PwH). Given the chronic nature of hemophilia, we hypothesized that hemophilia has an association with accelerated biological aging. Therefore, we investigated biological aging biomarkers, i.e. telomere length and mitochondrial DNA (mtDNA) copy number with a quantitative-PCR-based assay in PwH (n=99) and age- and sex-matched healthy controls (n=61). The association of telomere length and mtDNA copy number with hemophilia severity was investigated using ordinary-least-squares linear regression models allowing for interactions with chronological age. Telomere length (6.09 [4.79-7.68] kb vs. 10.07 [7.93-12.66] kb, p
