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Cited by 42Iron Metabolism and DisordersNeurological diseases and metabolismTrace Elements in Health

Evidence for heterogeneity in hereditary hemochromatosis

Muir, W.Angus, Mclaren, Gordon D., Braun, William, Askari, Ali·1984·The American Journal of Medicine
DOI 10.1016/0002-9343(84)90991-4
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Abstract

Hereditary hemochromatosis is an autosomal recessive disease in which the gene is linked to the HLA system. Investigation of nine unrelated probands and their family members has revealed distinct groups based on biochemical and clinical manifestations of the disease. Four different types of disease expression were identified: Group I--classic hereditary hemochromatosis with elevated transferrin saturation, serum ferritin levels, and liver iron content; Group II--severe iron overload, accelerated disease manifesting at an early age; Group III--elevated total body iron stores, normal transferrin saturation and serum ferritin levels; Group IV--markedly elevated findings on serum biochemical tests, e.g., transferrin saturation, serum ferritin levels, with minimal elevation in total body iron stores. This evidence for several clearly distinguishable modes of expression in different families suggests that more than one genetic lesion in iron metabolism may be responsible for iron overload in hereditary hemochromatosis. This genetic heterogeneity may be helpful in delineating the fundamental abnormalities in iron metabolism in this group of disorders.

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  • The N-terminus of hepcidin is critical to the negative regulation of Fpn; deletion of all five N-terminal amino acids completely abrogated hypoferremia.

    “The N-terminus of hepcidin is critical to the negative regulation of Fpn; deletion of all five of the amino acids of the N-terminus completely abrogated the hypoferremia (213).”

    From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [213]

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Authors
Muir, W. A., Mclaren, G. D., Braun, W., & Askari, A.
Corresponding author
Muir, W.Angus
ORCID
Braun, William
Venue
The American Journal of Medicine
Publisher
Elsevier BV
Published
1984-05
Volume
76
Issue
5
Pages
806-814
ISSN
0002-9343 (ISSN-L)
DOI
10.1016/0002-9343(84)90991-4
OpenAlex
W2075715857
Cited by
42
References
39
FWCI
0.91
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • The American Journal of Medicine (publishedVersion)
  • PubMed (publishedVersion)
Funders
NIH Clinical Center
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
hereditary hemochromatosis, genetic heterogeneity, iron overload, iron metabolism, HLA linkage, transferrin saturation, serum ferritin, liver iron concentration, autosomal recessive inheritance, disease phenotypes
MeSH terms
Absorption, Adult, Bloodletting, Female, Hemochromatosis, HLA Antigens, Homozygote, Humans, Iron, Liver, Male, Middle Aged, Pedigree, Transferrin

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