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

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 assesse...

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Detalles Bibliográficos
Autores principales: van der Staaij, Hilde, Donker, Albertine E., Bakkeren, Dirk L., Salemans, Jan M. J. I., Mignot-Evers, Lisette A. A., Bongers, Marlies Y., Dieleman, Jeanne P., Galesloot, Tessel E., Laarakkers, Coby M., Klaver, Siem M., Swinkels, Dorine W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836508/
https://www.ncbi.nlm.nih.gov/pubmed/35163840
http://dx.doi.org/10.3390/ijms23031917

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836508/
https://www.ncbi.nlm.nih.gov/pubmed/35163840
http://dx.doi.org/10.3390/ijms23031917

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