Haemochromatosis
Open accessAbstract
Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in hepcidin-ferroportin binding. Hepcidin regulates the activity of ferroportin, which is the only identified cellular iron exporter. The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Non-HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer. Mutations in SLC40A1 (also known as FPN1; encoding ferroportin) that prevent hepcidin-ferroportin binding also cause haemochromatosis. Cellular iron excess in HFE and non-HFE forms of haemochromatosis is caused by increased concentrations of plasma iron, which can lead to the accumulation of iron in parenchymal cells, particularly hepatocytes, pancreatic cells and cardiomyocytes. Diagnosis is noninvasive and includes clinical examination, assessment of plasma iron parameters, imaging and genetic testing. The mainstay therapy is phlebotomy, although iron chelation can be used in some patients. Hepcidin supplementation might be an innovative future approach.
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Specific point mutations in the HFE gene cause classical hereditary hemochromatosis, the most prevalent iron overload disorder in subjects of Caucasian ancestry.
“Specific point mutations in the HFE gene, which encodes a major histocompatibility complex (MHC) class I-like molecule, are the cause of classical hereditary hemochromatosis (HH), the most prevalent IO disorder in subjects of Caucasian ancestry (Brissot et al., 2018).”
From Iron in infection and immunity (2020) · cites this paper as Brissot et al., 2018
The Abstract (page unavailable) says that the most common form of haemochromatosis is caused by homozygous HFE C282Y mutations and that this mutation is found almost exclusively in white individuals. The Mechanisms/pathophysiology section identifies HFE as an HLA class I molecule. The cited passages do not establish the broader claim that classical hereditary haemochromatosis is the most prevalent of all iron-overload disorders in people of Caucasian ancestry. (LLM, conf=0.83)
Experimental — accuracy not yet measuredOverall hemochromatosis is due to insufficient hepcidin production or exceptionally to hepcidin resistance.
“Overall hemochromatosis is due to “insufficient hepcidin production” or exceptionally to “hepcidin resistance”.77”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [77]
Both genetic and acquired modifiers contribute to the penetrance of HFE-hemochromatosis, interfering with hepcidin expression: e.g., alcohol aggravates the iron burden, whereas blood donations attenuates it.
“Both genetic and acquired modifiers contribute to the penetrance of HFE-hemochromatosis, interfering with hepcidin expression: e.g., alcohol aggravates the iron burden, whereas blood donations attenuates it.77”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [77]
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 [77]
Transferrin saturation and serum ferritin coupled with genetic testing and non-invasive magnetic resonance imaging measurements of liver iron content define the nature and severity of iron loading in both hemochromatosis and thalassemia.
“Transferrin saturation (Tsat), i.e. the ratio of serum iron/total iron binding capacity and serum ferritin coupled with genetic testing and non-invasive magnetic resonance imaging measurements of liver iron content, define the nature and severity of iron loading in both hemochromatosis77 and thalassemia.110”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [77]
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- Authors
- Brissot, P., Pietrangelo, A., Adams, P. C., de Graaff, B., McLaren, C. E., & Loréal, O.
- Affiliations
- Inserm (FR)
- Azienda Ospedaliero-Universitaria di Modena (IT)
- Western University (CA)
- University of California, Irvine (US)
- Corresponding author
- Brissot, Pierre
- Venue
- Nature Reviews Disease Primers
- Published
- 2018-04-05
- Volume
- 4
- Issue
- 1
- Pages
- 18016-18016
- ISSN
- 2056-676X (ISSN-L)
- PMC
- PMC7775623
- OpenAlex
- W4232013301
- Cited by
- 430
- References
- 223
- Citations by year
- 2026: 35 · 2025: 44 · 2024: 64 · 2023: 54 · 2022: 74 · 2021: 69 · 2020: 42 · 2019: 24 · 2018: 11 · 2013: 1
- FWCI
- 6.11
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- Locations
- Nature Reviews Disease Primers (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- eCite Digital Repository (University of Tasmania) (submittedVersion)
- UTAS Research Repository (submittedVersion)
- HAL (submittedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Funders
- National Cancer Institute (P30CA062203)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Ferroptosis and cancer prognosis
- Keywords
- hemochromatosis, iron overload, hepcidin, ferroportin, HFE C282Y mutation, hemojuvelin, transferrin receptor 2, SLC40A1, iron metabolism, phlebotomy, iron chelation, diagnosis, clinical management, quality of life
- MeSH terms
- Ferroportin, Hemochromatosis, Humans, Iron, Magnetic Resonance Imaging, Mass Screening, Polymorphism, Genetic, Quality of Life, Chelation Therapy, Phlebotomy, Cation Transport Proteins
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