Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.
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The frequency of HLA-A3 and HLA-B14 antigens was significantly higher in a series of 51 patients with idiopathic haemochromatosis than in a control group, being respectively 78-4 versus 27-0% and 25-5 versus 3-4%. This finding strongly supports the suggestion that idiopathic haemochromatosis is a genetic disease and suggests that the gene(s) responsible for the disease may be linked to the histocompatibility genes.
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Hemochromatosis was one of the first genetic diseases to be linked to a discrete chromosomal position through Simon's finding that hemochromatosis patients were disproportionately likely to have particular HLA haplotypes.
“It was one of the first genetic diseases to be linked to a discrete chromosomal position, through the groundbreaking work of Simon, an astute French physician-scientist who found that hemochromatosis patients were disproportionately likely to have particular HLA haplotypes.120”
From Forging a field: the golden age of iron biology. (2008) · cites this paper as [120]
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Cites
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- Authors
- Simon, M., Bourel, M., Fauchet, R., & Genetet, B.
- Affiliations
- Inserm (FR)
- ORCID
- Simon, M
- Venue
- Gut
- Publisher
- BMJ
- Published
- 1976-05
- Volume
- 17
- Issue
- 5
- Pages
- 332-334
- ISSN
- 0017-5749 (ISSN-L)
- 1468-3288
- PMC
- PMC1411133
- OpenAlex
- W2170463264
- Cited by
- 389
- References
- 13
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 3 · 2023: 2 · 2021: 2 · 2020: 4 · 2019: 1 · 2018: 1 · 2017: 5 · 2016: 6 · 2015: 4 · 2014: 5 · 2013: 3 · 2012: 5
- FWCI
- 13.71
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Gut (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Nursing › Nutrition and Dietetics › Trace Elements in Health
- Keywords
- idiopathic hemochromatosis, HLA-A3, HLA-B14, HLA antigens, genetic susceptibility, histocompatibility genes, genetic linkage, disease association
- MeSH terms
- Adult, Alleles, Female, Hemochromatosis, Histocompatibility Antigens, HLA Antigens, Humans, Male, Middle Aged
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