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Article

Iron refractory iron deficiency anemia.

Haematologica - 1 Jun 2013

De Falco Luigia, Sanchez Mayka, Silvestri Laura, Kannengiesser Caroline, Muckenthaler Martina U, Iolascon Achille, Gouya Laurent, Camaschella Clara, Beaumont Carole

Abstract excerpt

Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values. The anemia...

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Share to Anemia, Iron-Deficiency
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23729726
DOI: 10.3324/haematol.2012.075515
PMCID: PMC3669438

Genes

TMPRSS6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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