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Article

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

Blood cells, molecules & diseases - 15 Jan 2010

Beutler E, Van Geet C, te Loo D M W M, Gelbart T, Crain K, Truksa J, Lee P L

Abstract excerpt

Male subjects with iron deficiency from the general population were examined for polymorphisms or sporadic mutations in TMPRSS6 to identify genetic risk factors for iron deficiency anemia. Three uncommon non-synonymous polymorphisms were identified, G228D, R446W, and V795I (allele frequencies 0.0074, 0.023 and 0.0074 respectively), of which the R446W polymorphism appeared to be overrepresented in the anemic...

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Source

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Identifiers

PMID: 19818657
DOI: 10.1016/j.bcmd.2009.09.001
PMCID: PMC2818284

Genes

TMPRSS6

Variants

Provenance

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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