Transferrin Saturation/Hepcidin Ratio Discriminates <i>TMPRSS6</i>-Related Iron Refractory Iron Deficiency Anemia from Patients with Multi-Causal Iron Deficiency Anemia

Pathogenic <i>TMPRSS6</i> 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 hetero...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:International Journal of Molecular Sciences
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Online Access:https://www.mdpi.com/1422-0067/23/3/1917