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Article

Pitfalls in the genetic diagnosis of hereditary hemochromatosis.

Genetic testing - 1 Jan 2000

Jeffrey G P, Adams P C

Abstract excerpt

The widespread use of the genotype assay that identifies the common C282Y mutation in the HFE gene has allowed an earlier diagnosis to be made in many subjects. A significant number of these patients may have no evidence of phenotypic disease and have a normal serum ferritin level. This phenomenon is more common when the genotype assay is used to screen populations rather than higher-risk groups such as family...

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Share to Hemochromatosis
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Share to Histocompatibility Antigens Class I

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10953953
DOI: 10.1089/10906570050114849

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Pitfalls in the genetic diagnosis of hereditary hemochromatosis.PMID 10953953Read ↗

Hereditary hemochromatosis: missed diagnosis or misdiagnosis?Semantic proximity Read ↗

Genotyping as a diagnostic aid in genetic haemochromatosis.Semantic proximity Read ↗

The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic.Semantic proximity Read ↗

Detection of the C282Y and H63D polymorphisms associated with hereditary hemochromatosis using the ABI 7500 fast real time PCR platform.Semantic proximity Read ↗

Detection of an unusual combination of mutations in the HFE gene for hemochromatosis.Semantic proximity Read ↗

5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals.Semantic proximity Read ↗

Possible incorrect genotyping of heterozygous factor V Leiden and Prothrombin 20210 gene mutations by the GeneXpert assay.Semantic proximity Read ↗

HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors.Semantic proximity Read ↗

Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis.Semantic proximity Read ↗

A common intron 3 mutation (IVS3 -48c-->g) leads to misdiagnosis of the c.845G-->A (C282Y) HFE gene mutation.Semantic proximity Read ↗

Use of denaturing HPLC and a heteroduplex generator to detect the HFE C282Y mutation associated with genetic hemochromatosis.Semantic proximity Read ↗

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