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Article

Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin.

Haematologica - 1 Mar 2013

Nekhai Sergei, Xu Min, Foster Altreisha, Kasvosve Ishmael, Diaz Sharmin, Machado Roberto F, Castro Oswaldo L, Kato Gregory J, Taylor James G, Gordeuk Victor R

Abstract excerpt

Ferroportin Q248H mutation has an allele frequency of 2.2-13.4% in African populations and is associated with a mild tendency to increased serum ferritin in the general population. Some investigators have reported that ferroportin Q248H is degraded after exposure to hepcidin in exactly the same manner as wild-type ferroportin, but supraphysiological concentrations of hepcidin were used. The aim of our study was...

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Identifiers

PMID: 23065513
DOI: 10.3324/haematol.2012.066530
PMCID: PMC3659936

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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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