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Article

Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.

Blood cells, molecules & diseases - 1 Jan 2000

Lee Pauline, Rice Lawrence, McCarthy John J, Beutler Ernest

Abstract excerpt

A 55 year old man with a history of chronic hepatitis C infection was found to have severe hemochromatosis: hepatic cirrhosis, cardiomyopathy, arrhythmia, hypogonadism, diabetes and bronzed skin color. After 50 phlebotomies, he underwent a combined heart and liver transplant. Genetic analyses identified a novel mutation in the iron responsive element of the ALAS2 gene. No mutations were found in other genes...

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Source

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Identifiers

PMID: 18823803
DOI: 10.1016/j.bcmd.2008.08.001
PMCID: PMC2696479

Genes

ALAS2
HAMP
HFE
HJV
TFR2

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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