Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease
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Key Points: This comprehensive comparison of the genetic subtypes of hemochromatosis reveals more severe iron overload and disease in non-HFE forms. Arthropathy is more common in HFE-related hemochromatosis, suggesting that joint disease may not be associated with iron.
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NTBI leads to the generation of reactive oxygen species and cell damage, causing liver fibrosis (which may progress to cirrhosis and hepatocellular carcinoma), chronic heart failure, diabetes, hypopituitarism and other complications of iron loading.
“NTBI leads to the generation of reactive oxygen species and cell damage, causing liver fibrosis (which may progress to cirrhosis and hepatocellular carcinoma), chronic heart failure, diabetes, hypopituitarism and other complications of iron loading.77,79”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [79]
In all recessive forms of hemochromatosis, hepcidin is inappropriately low in comparison with iron excess and the onset and severity of iron overload correlate with the hormone deficiency.
“In all the recessive forms hepcidin is inappropriately low in comparison with iron excess and the onset and severity of iron overload correlate with the hormone deficiency.79”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [79]
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Self-citation
- Authors
- Sandhu, K., Flintoff, K., Chatfield, M. D., Dixon, J. L., Ramm, L. E., Ramm, G. A., Powell, L. W., Subramaniam, V. N., & Wallace, D. F.
- Affiliations
- The University of Queensland (AU)
- QIMR Berghofer Medical Research Institute (AU)
- Queensland University of Technology (AU)
- Corresponding author
- Subramaniam, V. Nathan
- Wallace, Daniel F.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2018-07-05
- Volume
- 132
- Issue
- 1
- Pages
- 101-110
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2801132106
- Cited by
- 61
- References
- 75
- Citations by year
- 2026: 6 · 2025: 6 · 2024: 5 · 2023: 4 · 2022: 8 · 2021: 14 · 2020: 9 · 2019: 8 · 2018: 1
- FWCI
- 5.73
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- QUT ePrints (Queensland University of Technology) (submittedVersion, cc-by-nc)
- Funders
- National Health and Medical Research Council (1082224)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Keywords
- hereditary hemochromatosis, HFE C282Y homozygosity, hemojuvelin, hepcidin, transferrin receptor 2, iron overload, disease severity, age of onset, juvenile hemochromatosis, cardiomyopathy, hypogonadism, arthritis, joint diseases, differential diagnosis
- MeSH terms
- Hemochromatosis Protein, Adult, Female, Hemochromatosis, Humans, Male, Phenotype, Receptors, Transferrin, Severity of Illness Index, Mutation, Missense, Hepcidins
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