دورية أكاديمية
Towards Personalized Treatment in Haemophilia: The Role of Genetic Factors in Iron and Heme Control to Identify Patients at Risk for Haemophilic Arthropathy.
| العنوان: | Towards Personalized Treatment in Haemophilia: The Role of Genetic Factors in Iron and Heme Control to Identify Patients at Risk for Haemophilic Arthropathy. |
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| المؤلفون: | 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. |
| المصدر: | Journal of personalized medicine [J Pers Med] 2024 Jan 28; Vol. 14 (2). Date of Electronic Publication: 2024 Jan 28. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel, Switzerland : MDPI AG, 2011- |
| مستخلص: | 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. |
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| معلومات مُعتمدة: | N/a, unrestricted grant CSL (Germany) |
| فهرسة مساهمة: | Keywords: HFE; HMOX1; arthropathy; haemophilia; personalized medicine |
| تواريخ الأحداث: | Date Created: 20240223 Latest Revision: 20240225 |
| رمز التحديث: | 20240225 |
| مُعرف محوري في PubMed: | PMC10890487 |
| DOI: | 10.3390/jpm14020145 |
| PMID: | 38392579 |
| قاعدة البيانات: | MEDLINE |
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