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[Significance of "minor" genetic mutations in hereditary hemochromatosis: 2 case reports].

Annali italiani di medicina interna : organo ufficiale della Societa italiana di medicina interna - 1 Jan 2000

Maccari S, Plancher A C

Abstract excerpt

We describe a case of homozygosity due to the substitution of aspartic acid with histidine at position 63 of the protein encoded by the gene (known as HFE) associated with hereditary hemochromatosis. Liver biopsy did not disclose stainable iron accumulation; serum ferritin was elevated (639 ng/mL), while the transferrin saturation index was within the normal range (38.1%). As the patient was affected by chronic...

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Source

Identifiers

PMID: 11059064

Genes

HFE

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 9 closest

[Significance of "minor" genetic mutations in hereditary hemochromatosis: 2 case reports].PMID 11059064Read ↗

[From gene to disease; HFE-mutations in primary haemochromatosis].Semantic proximity Read ↗

[The importance of DNA analysis of C282Y, H63D and S65C mutations in the HFE gene].Semantic proximity Read ↗

The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis.Semantic proximity Read ↗

Significance of H63D homozygosity in a Basque population with hemochromatosis.Semantic proximity Read ↗

Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease?Semantic proximity Read ↗

Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes.Semantic proximity Read ↗

[Hereditary hemochromatosis associated with hypoceruloplasminemia with absence of mutations in the HFE gene]].Semantic proximity Read ↗

An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.Semantic proximity Read ↗

HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis.Semantic proximity Read ↗

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