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Article

Novel mutation in the TMPRSS6 gene with iron-refractory iron deficiency anemia.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2014

Kodama Koya, Noguchi Atsuko, Adachi Hiroyuki, Hebiguchi Miwa, Yano Michihiro, Takahashi Tsutomu

Abstract excerpt

Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation, low serum iron, normal-high serum ferritin, and increased hepcidin. This disease is caused by loss-of-function mutations in TMPRSS6 that lead to high hepcidin and result in severe anemia. We report our experience with an 11-year-old Japanese...

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Identifiers

PMID: 25252070
DOI: 10.1111/ped.12395

Genes

TMPRSS6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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