IRIDA Phenotype in <i>TMPRSS6</i> Monoallelic-Affected Patients: Toward a Better Understanding of the Pathophysiology

IRIDA Phenotype in <i>TMPRSS6</i> Monoallelic-Affected Patients: Toward a Better Understanding of the Pathophysiology

Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive inherited form of iron deficiency anemia characterized by discrepantly high hepcidin levels relative to body iron status. However, patients with monoallelic exonic <i>TMPRSS6</i> variants have also been reported to...

Full description

Bibliographic Details
Main Authors: Vera Hoving, Scott E. Korman, Petros Antonopoulos, Albertine E. Donker, Saskia E. M. Schols, Dorine W. Swinkels
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Genes
Subjects:
IRIDA
anemia
iron
heterozygous <i>TMPRSS6</i>
monoallelic <i>TMPRSS6</i>
phenotype
Online Access:https://www.mdpi.com/2073-4425/13/8/1309

Internet

https://www.mdpi.com/2073-4425/13/8/1309

Similar Items