,
, Nat Genet, vol.36, pp.77-82, 2004.
,
, Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis, Nat Genet, vol.33, pp.21-22, 2003.
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22, Nature Genetics, vol.326, issue.1, pp.14-15, 2000. ,
DOI : 10.1056/NEJM199201093260204
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, Nature Genetics, vol.95, issue.3, pp.213-214, 2001. ,
DOI : 10.1073/pnas.95.3.1148
,
, Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene, J Clin Invest, vol.108, pp.619-623, 2001.
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans, Nature Genetics, vol.224, issue.3, pp.267-272, 1995. ,
DOI : 10.1172/JCI105891
Iron disorders of genetic origin: a changing world, Trends in Molecular Medicine, vol.17, issue.12, pp.707-713, 2011. ,
DOI : 10.1016/j.molmed.2011.07.004
URL : https://hal.archives-ouvertes.fr/hal-00739428
Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin, Gastroenterology, vol.149, issue.5, pp.1240-1251, 2015. ,
DOI : 10.1053/j.gastro.2015.06.045
Iron metabolism and related genetic diseases: A cleared land, keeping mysteries A new mouse liverspecific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload, J Hepatol J Biol Chem, vol.64276, pp.505-5157811, 2001. ,
Systemic Iron Homeostasis, Physiological Reviews, vol.47, issue.4, pp.1721-1741, 2013. ,
DOI : 10.1182/blood-2007-01-066068
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin, Blood, vol.106, issue.3, pp.1092-1097, 2005. ,
DOI : 10.1182/blood-2005-02-0561
,
, The molecular mechanism of hepcidin-mediated ferroportin down-regulation Ruchala P, Nemeth E. The pathophysiology and pharmacology of hepcidin, Mol Biol Cell Trends Pharmacol Sci, vol.1835, issue.14, pp.2569-2578155, 2007.
Non-transferrin bound iron: A key role in iron overload and iron toxicity, Biochimica et Biophysica Acta (BBA) - General Subjects, vol.1820, issue.3, pp.403-410, 2012. ,
DOI : 10.1016/j.bbagen.2011.07.014
URL : https://hal.archives-ouvertes.fr/hal-00739430
Redox active plasma iron in C282Y/C282Y hemochromatosis, Blood, vol.105, issue.11, pp.4527-4531, 2005. ,
DOI : 10.1182/blood-2004-09-3468
LPI-labile plasma iron in iron overload. Best practice & research, Clinical haematology, vol.18, pp.277-287, 2005. ,
Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease, Gastroenterology, vol.140, issue.4, pp.1199-1207, 2011. ,
DOI : 10.1053/j.gastro.2010.12.049
URL : https://hal.archives-ouvertes.fr/inserm-00554693
Aceruloplasminemia, Neuropathology, vol.29, issue.1, pp.83-90, 2015. ,
DOI : 10.1016/j.braindev.2007.01.001
, Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin
, EMBO J, vol.26, pp.2823-2831, 2007.
,
, Iron-overload-related disease in HFE hereditary hemochromatosis, N Engl J Med, vol.358, issue.22, pp.221-230, 2008.
,
C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: a genotypestratified cohort study of hemochromatosis in Australian women, J Gastroenterol Hepatol, 2016. ,
, Decreased iron burden in overweight C282Y homozygous women: Putative role of increased hepcidin production, Hepatology, vol.57, pp.1784-1792, 2013.
,
Testosterone perturbs systemic iron balance through activation of epidermal growth factor receptor signaling in the liver and repression of hepcidin Testosterone suppresses hepcidin in men: a potential mechanism for testosterone-induced erythrocytosis Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis, Hepatology J Clin Endocrinol Metab Hum Mol Genet, vol.599523, issue.26, pp.683-6944743, 2010. ,
Optimizing the diagnosis and the treatment of iron overload diseases, Expert Review of Gastroenterology & Hepatology, vol.364, issue.15, pp.359-370, 2016. ,
DOI : 10.1111/liv.12893
How should hyperferritinaemia be investigated and managed?, European Journal of Internal Medicine, vol.33, pp.21-27, 2016. ,
DOI : 10.1016/j.ejim.2016.05.014
Increased serum hepcidin levels in subjects with the metabolic syndrome: a population studyDysmetabolic iron overload syndrome: a systemic disease?] Increase in glycosylated and nonglycosylated serum ferritin in chronic alcoholism and their evolution during alcohol withdrawal, PLoS One Presse Med Alcohol Clin Exp Res, vol.74315, pp.625-627963, 1991. ,
Estimating tissue iron burden: current status and future prospects, British Journal of Haematology, vol.147, issue.1, pp.15-28, 2015. ,
DOI : 10.1111/j.1365-2141.2009.07907.x
,
, Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance, Blood, vol.105, pp.855-861, 2005.
Non-invasive assessment of hepatic iron stores by MRI Saliba A, Taher A. Iron overload in transfusion-dependent thalassemia Non-transfusion-dependent thalassemias, Lancet Hematology Musallam KM Haematologica, vol.3632098, issue.36, pp.357-362311, 2004. ,
Longitudinal MRI and Ferritin Monitoring of Iron Overload in Chronically Transfused and Chelated Children With Sickle Cell Anemia and Thalassemia Major Steensma DP, Gattermann N. When is iron overload deleterious, and when and how should iron chelation therapy be administered in myelodysplastic syndromes?, Prevalence and risk factors of iron overload after hematopoietic stem cell transplantation for childhood acute leukemia: a LEA study, pp.497-502431, 2013. ,
,
, Evidence for tissue iron overload in long-term hemodialysis patients and the impact of withdrawing parenteral iron, Eur J Haematol, vol.89, pp.87-93, 2012.
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) Non- HFE hemochromatosis: pathophysiological and diagnostic aspects, Eur J Hum Genet Bardou-Jacquet E Clin Res Hepatol Gastroenterol, vol.2438, issue.42, pp.479-495143, 2014. ,
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data, Genetics in Medicine, vol.38, issue.6, 2015. ,
DOI : 10.1093/aje/kws126
45. HAS. French recommendations for management of HFE hemochromatosishas-sante.fr. 46 Hereditary hemochromatosis: patient experiences of the disease and phlebotomy treatment Erythrocytapheresis versus phlebotomy in the maintenance treatment of HFE hemochromatosis patients: results from a randomized crossover trial Minihepcidins prevent iron overload in a hepcidin-deficient mouse model of severe hemochromatosis, Ferroportin diseases: functional studies, pp.1529-15361331, 2005. ,
,
Hemojuvelin hemochromatosis receiving iron chelation therapy with deferasirox: improvement of liver disease activity, cardiac and hematological function HJV hemochromatosis, iron overload, and hypogonadism in a Brazilian man: treatment with phlebotomy and deferasirox Costs associated with hereditary haemochromatosis in Australia: a cost-of-illness study, Eur J Haematol Acta Haematol Aust Health Rev, vol.87124, issue.51, pp.467-469204, 2010. ,