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Article

Frequencies of C282Y and H63D mutations and transferrin saturation indices in the Korean population.

Clinical chemistry and laboratory medicine - 1 Jul 2002

Choi Soo Jin, Min Won-Ki, Chun Sail, Park Hyosoon, Kim Jong Won, Park Chan Jeong, Chi Hyun Sook

Abstract excerpt

Hereditary hemochromatosis (HHC) is an autosomal recessive disorder that damages various organs because of the deposition of excess iron. At the human hemochromatosis (HFE) gene, two mutations of C282Y and H63D have been reported. The frequencies of C282Y and H63D mutations vary among ethnic groups. At present, the most suitable screening test for HHC is the assessment of transferrin saturation (TS). We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12241015
DOI: 10.1515/CCLM.2002.118

Genes

HFE

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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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