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Article

H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?

European journal of haematology - 1 Jan 2007

de Diego Carles, Opazo Sonsoles, Murga Maria J, Martínez-Castro Pedro

Abstract excerpt

OBJECTIVES: Hereditary haemochromatosis is a disease that affects iron metabolism and leads to iron overload. Homozygosity for the H63D mutation is associated with increased transferrin saturation (TS) and ferritin levels. Our objective was to find out if the homozygosity of H63D mutation was the primary cause of iron overload. PATIENTS AND METHODS: We studied 45 H63D homozygotes (31 males and 14 females) with...

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Source

Identifiers

PMID: 17042772
DOI: 10.1111/j.1600-0609.2006.00775.x

Genes

HFE
HAMP
TFR2

Variants

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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H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?PMID 17042772Read ↗

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