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Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis.

Medical molecular morphology - 1 Sept 2023

Hu Jing, Li Yuan, Zhang Li, Peng Guangxin, Zhang Fengkui, Zhao Xin

Abstract excerpt

Hereditary hemochromatosis type 4 is an autosomal-dominant inherited disease characterized by a mutation in the SLC40A1 gene encoding ferroportin. This condition can be further subdivided into types 4A (loss-of-function mutations) and 4B (gain-of-function mutations). To date, only a few cases of type 4B cases have been reported, and the treatment has not been clearly mentioned. Here, we report a genotype of...

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Identifiers

PMID: 37382698
DOI: 10.1007/s00795-023-00359-8

Genes

SLC40A1

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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