Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management
Open accessAbstract
The term hemochromatosis (HC) corresponds to several diseases characterized by systemic iron overload of genetic origin and affecting both the quality of life and life expectancy. Major improvement in the knowledge of iron metabolism permits to divide these diseases into two main pathophysiological categories. For most HC forms (types 1, 2, 3 and 4B HC) iron overload is related to cellular hepcidin deprivation which causes an increase of plasma iron concentration and the appearance of plasma non-transferrin bound iron. In contrast, iron excess in type 4A ferroportin disease is related to decreased cellular iron export. Whatever the HC type, the diagnosis rests on a non-invasive strategy, combining clinical, biological and imaging data. The mainstay of the treatment remains venesection therapy with the perspective of hepcidin supplementation for hepcidin deprivation-related HC. Prevention of HC is critical at the family level and, for type 1 HC, remains a major goal, although still debated, at the population level.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Hereditary hemochromatosis is characterized by increased absorption of dietary iron, often causing massively increased body iron content and high plasma iron concentrations that saturate the iron-binding capacity of transferrin, leading to the appearance of non-transferrin-bound iron (NTBI).
“a set of diseases characterized by increased absorption of dietary iron, often causing massively increased body iron content, and high plasma iron concentrations that saturate the iron-binding capacity of transferrin, leading to the appearance of non-transferrin-bound iron (NTBI).”
From Hepcidin-Ferroportin Interaction Controls Systemic Iron Homeostasis (2021) · cites this paper as [61]
Adult forms of hemochromatosis are much less severe, can be clinically silent and not cause organ damage.
“at the other extreme are much less severe adult forms which can even be clinically silent and not cause organ damage.”
From Hepcidin-Ferroportin Interaction Controls Systemic Iron Homeostasis (2021) · cites this paper as [61]
Juvenile hemochromatosis can cause severe heart disease, endocrinopathy and death in young adults.
“At one extreme is the severe juvenile form that can cause severe heart disease, endocrinopathy and death in young adults”
From Hepcidin-Ferroportin Interaction Controls Systemic Iron Homeostasis (2021) · cites this paper as [61]
Loss-of-function mutations in positive regulators of hepcidin or the hepcidin gene itself cause hereditary hemochromatosis.
“Loss-of-function mutations in positive regulators of hepcidin or the hepcidin gene itself (Table 2) cause hereditary hemochromatosis [61]”
From Hepcidin-Ferroportin Interaction Controls Systemic Iron Homeostasis (2021) · cites this paper as [61]
Cites
Pigeon, C., Ilyin, G., Courselaud, B., Leroyer, P., Turlin, B., Brissot, P., & Loréal, O. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m008923200 · Cited by 1,697 · see citing works
Self-citationGanz, T. (2013) · Physiological Reviews · doi:10.1152/physrev.00008.2013 · Cited by 1,122 · see citing works
Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis
Papanikolaou, G., Samuels, M. E., Ludwig, E. H., MacDonald, M. L. E., Franchini, P. L., Dubé, M.-P., Andres, L., MacFarlane, J., Sakellaropoulos, N., Politou, M., et al. (2004) · Nature Genetics · doi:10.1038/ng1274 · Cited by 974 · see citing works
Self-citationNon-transferrin bound iron: a key role in iron overload and iron toxicity
Brissot, P., Ropert, M., Le Lan, C., & Loréal, O. (2012) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2011.07.014 · Cited by 654 · see citing works
Self-citationThe Molecular Mechanism of Hepcidin-mediated Ferroportin Down-Regulation
De Domenico, I., Ward, D. M., Langelier, C., Vaughn, M. B., Nemeth, E., Sundquist, W. I., Ganz, T., Musci, G., & Kaplan, J. (2007) · Molecular Biology of the Cell · doi:10.1091/mbc.e07-01-0060 · Cited by 434 · see citing works
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
Drakesmith, H., Schimanski, L. M., Ormerod, E., Merryweather-Clarke, A. T., Viprakasit, V., Edwards, J. P., Sweetland, E., Bastin, J. M., Cowley, D., Chinthammitr, Y., et al. (2005) · Blood · doi:10.1182/blood-2005-02-0561 · Cited by 264 · see citing works
Bachman, E., Feng, R., Travison, T., Li, M., Olbina, G., Ostland, V., Ulloor, J., Zhang, A., Basaria, S., Ganz, T., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0864 · Cited by 247 · see citing works
Minihepcidins prevent iron overload in a hepcidin-deficient mouse model of severe hemochromatosis
Ramos, E., Ruchala, P., Goodnough, J. B., Kautz, L., Preza, G. C., Nemeth, E., & Ganz, T. (2012) · Blood · doi:10.1182/blood-2012-07-440743 · Cited by 213 · see citing works
Genetics, genetic testing, and management of hemochromatosis: 15 years since hepcidin
Pietrangelo, A. (2015) · Gastroenterology · doi:10.1053/j.gastro.2015.06.045 · Cited by 136 · see citing works
Latour, C., Kautz, L., Besson-Fournier, C., Island, M.-L., Canonne-Hergaux, F., Loréal, O., Ganz, T., Coppin, H., & Roth, M.-P. (2014) · Hepatology · doi:10.1002/hep.26648 · Cited by 120 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Hepcidin-Ferroportin Interaction Controls Systemic Iron Homeostasis
Nemeth, E., & Ganz, T. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22126493 · Cited by 540 · see citing works
- Authors
- Brissot, P., Cavey, T., Ropert, M., Guggenbuhl, P., & Loréal, O.
- Affiliations
- Inserm (FR)
- Venue
- La Presse Médicale
- Publisher
- Elsevier BV
- Published
- 2017-12
- Volume
- 46
- Issue
- 12
- Pages
- e288-e295
- ISSN
- 0032-7867 (ISSN-L)
- 0755-4982
- OpenAlex
- W2770631209
- Cited by
- 55
- References
- 10
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 3 · 2022: 27 · 2021: 6 · 2020: 4 · 2019: 6 · 2018: 6
- FWCI
- 0.69
- Type
- journal article
- Language
- en
- Open access
- Licence
- Locations
- La Presse Médicale (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- 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, iron overload, iron metabolism, hepcidin, ferroportin disease, non-transferrin-bound iron, phlebotomy, iron overload diagnosis, genetic disorders
- MeSH terms
- Hemochromatosis, Humans, Iron, Hepcidins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
