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Article

A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.

American journal of hematology - 1 Jul 2014

Moreno-Carralero María-Isabel, Muñoz-Muñoz Juan-Antonio, Cuadrado-Grande Nuria, López-Rodríguez Rafaela, José Hernández-Alfaro María, del-Castillo-Rueda Alejandro, Enríquez-de-Salamanca Rafael, Méndez Manuel, Morán-Jiménez María-Josefa

Abstract excerpt

Ferroportin disease is an inherited disorder of iron metabolism and is caused by mutations in the ferroportin gene (SLC40A1). We present a patient with hyperferritinemia, iron overload in the liver with reticuloendothelial distribution and also in the spleen, and under treatment with erythropheresis. A molecular study of the genes involved in iron metabolism (HFE, HJV, HAMP, TFR2, SLC40A1) was undertaken. In...

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Identifiers

PMID: 24644245
DOI: 10.1002/ajh.23714

Genes

HAMP
HFE
HJV
TFR2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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