Marina Trappl, Rafaela Vostatek, Manuel Salzmann, Daniel Kraemmer, Johanna Gebhart, Philipp Hohensinner, Ingrid Pabinger, Cihan Ay
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引用次数: 0
Abstract
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.
期刊介绍：
Haematologica is a journal that publishes articles within the broad field of hematology. It reports on novel findings in basic, clinical, and translational research.
Scope:
The scope of the journal includes reporting novel research results that:
Have a significant impact on understanding normal hematology or the development of hematological diseases.
Are likely to bring important changes to the diagnosis or treatment of hematological diseases.
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