Article
IRIDA Phenotype in TMPRSS6 Monoallelic-Affected Patients: Toward a Better Understanding of the Pathophysiology.
Genes - 23 Jul 2022
Hoving Vera, Korman Scott E, Antonopoulos Petros, Donker Albertine E, Schols Saskia E M, Swinkels Dorine W
Abstract excerpt
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 TMPRSS6 variants have also been reported to express the IRIDA phenotype. The pathogenesis of an IRIDA phenotype in these patients is unknown and causes diagnostic uncertainty....
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