Cited by 61Iron Metabolism and DisordersNeurological diseases and metabolismHemoglobinopathies and Related Disorders

Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease

Open access
Sandhu, Kam, Flintoff, Kaledas, Chatfield, Mark D., Dixon, Jeannette L., Ramm, Louise E., Ramm, Grant A., Powell, Lawrie W., Subramaniam, V. Nathan +1 more·2018·Blood

Abstract

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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Crossref · 10.1182/blood-2018-02-830562

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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”
  • 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”

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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
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
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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