Transferrin Saturation/Hepcidin Ratio Discriminates TMPRSS6-Related Iron Refractory Iron Deficiency Anemia from Patients with Multi-Causal Iron Deficiency Anemia
| Autor: | Hilde van der Staaij, Albertine E. Donker, Dirk L. Bakkeren, Jan M. J. I. Salemans, Lisette A. A. Mignot-Evers, Marlies Y. Bongers, Jeanne P. Dieleman, Tessel E. Galesloot, Coby M. Laarakkers, Siem M. Klaver, Dorine W. Swinkels |
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| Přispěvatelé: | RS: GROW - R4 - Reproductive and Perinatal Medicine, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9) |
| Rok vydání: | 2022 |
| Předmět: |
TMPRSS6
QH301-705.5 Vascular damage Radboud Institute for Health Sciences [Radboudumc 16] DIAGNOSIS IRIDA Catalysis DISEASE Inorganic Chemistry HEPCIDIN iron deficiency anemia hepcidin transferrin transferrin saturation/hepcidin ratio transferrin saturation hemic and lymphatic diseases Biology (General) Physical and Theoretical Chemistry QD1-999 Molecular Biology Spectroscopy hepcidin ratio MUTATIONS Organic Chemistry nutritional and metabolic diseases General Medicine Computer Science Applications Chemistry SERINE-PROTEASE INSIGHTS Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11] PRACTICE GUIDELINES Urological cancers Radboud Institute for Health Sciences [Radboudumc 15] |
| Zdroj: | International Journal of Molecular Sciences, 23, 3 International Journal of Molecular Sciences; Volume 23; Issue 3; Pages: 1917 International Journal of Molecular Sciences, 23(3):1917. Multidisciplinary Digital Publishing Institute (MDPI) International Journal of Molecular Sciences, 23 International Journal of Molecular Sciences, Vol 23, Iss 1917, p 1917 (2022) |
| ISSN: | 1422-0067 1661-6596 |
| Popis: | Pathogenic TMPRSS6 variants impairing matriptase-2 function result in inappropriately high hepcidin levels relative to body iron status, leading to iron refractory iron deficiency anemia (IRIDA). As diagnosing IRIDA can be challenging due to its genotypical and phenotypical heterogeneity, we assessed the transferrin saturation (TSAT)/hepcidin ratio to distinguish IRIDA from multi-causal iron deficiency anemia (IDA). We included 20 IRIDA patients from a registry for rare inherited iron disorders and then enrolled 39 controls with IDA due to other causes. Plasma hepcidin-25 levels were measured by standardized isotope dilution mass spectrometry. IDA controls had not received iron therapy in the last 3 months and C-reactive protein levels were |
| Databáze: | OpenAIRE |
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