| Autor: |
van Vulpen LFD; Centre for Benign Hematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Postbus 85500, 3508 GA Utrecht, The Netherlands., Mastbergen SC; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, University Utrecht, 3508 GA Utrecht, The Netherlands., Foppen W; Department of Radiology and Nuclear Medicine, Division of Imaging & Oncology, University Medical Center Utrecht, University Utrecht, 3508 GA Utrecht, The Netherlands., Fischer K; Centre for Benign Hematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Postbus 85500, 3508 GA Utrecht, The Netherlands., Lafeber FPJG; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, University Utrecht, 3508 GA Utrecht, The Netherlands., Schutgens REG; Centre for Benign Hematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Postbus 85500, 3508 GA Utrecht, The Netherlands. |
| Abstrakt: |
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. |
