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Article

TMPRSS6 Non-Coding Variants in the Expression of Iron Refractory Iron Deficiency Anemia in Monoallelic Subjects.

Genes - 8 Jan 2026

Hoving Vera, Donker Albertine E, Smeets Roel J P, van den Heuvel Bert P W J, Schols Saskia E M, Swinkels Dorine W

Abstract excerpt

BACKGROUND: Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary disorder caused by pathogenic variants in TMPRSS6, characterized by microcytic anemia, low circulating iron levels, and inappropriately high hepcidin levels. Although IRIDA is typically an autosomal recessive disorder, some individuals with a monoallelic pathogenic exonic TMPRSS6 variant exhibit the phenotype, suggesting additional...

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Identifiers

PMID: 41595494
DOI: 10.3390/genes17010074
PMCID: PMC12841354

Genes

TMPRSS6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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