P. Brissot, A. Pietrangelo, P. C. Adams, B. De-graaff, C. E. Mclaren et al., Nature Reviews Disease Primers, vol.4, p.18016, 2018.

P. Brissot, Optimizing the diagnosis and the treatment of iron overload diseases, Expert Rev Gastroenterol Hepatol, vol.10, issue.3, pp.359-70, 2016.

G. Porto, P. Brissot, D. W. Swinkels, H. Zoller, O. Kamarainen et al., EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH), Eur J Hum Genet, vol.24, issue.4, pp.479-95, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01187326

P. C. Santos, C. L. Dinardo, R. D. Cancado, I. T. Schettert, J. E. Krieger et al., Non-HFE hemochromatosis, Rev Bras Hematol Hemoter, vol.34, issue.4, pp.311-317, 2012.

P. C. Santos, J. E. Krieger, and A. C. Pereira, Molecular diagnostic and pathogenesis of hereditary hemochromatosis, Int J Mol Sci, vol.13, issue.2, pp.1497-511, 2012.

L. C. Pilling, Common conditions associated with iron overload genetic variants : cohort study in UK Biobank, BMJ, vol.364, issue.k5222, 2019.

P. Brissot and O. , Iron metabolism and related genetic diseases: A cleared land, keeping mysteries, J. Hepatol, vol.64, issue.2, pp.505-515, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01231421

A. Pietrangelo, Non-HFE hemochromatosis, Semin. Liver Dis, vol.25, issue.4, pp.450-460, 2005.

A. Pietrangelo, Genetics, genetic testing, and management of hemochromatosis: ears since hepcidin, Gastroenterology, vol.149, pp.1240-1251, 2015.

S. Badar, F. Busti, and A. Ferrarini, Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with patients with unexplained iron overload, Am J Hematol, vol.91, pp.420-425, 2016.

R. Faria, B. Silva, C. Silva, P. Loureiro, A. Queiroz et al., Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population, Blood Cells, Mol Dis, vol.61, pp.10-15, 2016.

P. C. Santos, R. D. Cançado, A. C. Pereira, I. T. Schettert, R. A. Soares et al., Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients, Molecules, and Diseases, vol.46, issue.4, pp.302-307, 2011.

B. Bragdon, O. Moseychuk, S. Saldanha, D. King, J. Julian et al., Bone morphogenetic proteins: a critical review, Cellular signalling, vol.23, issue.4, pp.609-620, 2011.

C. Camaschella, BMP6 orchestrates iron metabolism, Nat Genet, vol.41, pp.386-388, 2009.

C. J. Mcdonald, L. Ostini, and D. F. Wallace, Next-generation sequencing:Application of a novel platform to analyze atypical iron disorders, J Hepatol, vol.63, pp.1288-1293, 2015.

N. L. Parrow and R. E. Fleming, Bone morphogenetic proteins as regulators of iron metabolism, Annu Rev Nutr, vol.34, pp.77-94, 2014.

S. Badar, F. Busti, and A. Ferrarini, Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian Journal Pre-proof

L. Kautz, D. Meynard, and A. Monnier, Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver, Blood, vol.112, pp.1503-1509, 2008.
URL : https://hal.archives-ouvertes.fr/hal-00298517

L. Kautz, C. Besson-fournier, and D. Meynard, Iron overload induces BMP6 expression in the liver but not in the duodenum, Haematologica, vol.96, pp.199-203, 2011.

D. Meynard, L. Kautz, and V. Darnaud, Lack of the bone morphogenetic protein BMP6 induces massive iron overload, Nat Genet, vol.41, pp.478-481, 2009.
URL : https://hal.archives-ouvertes.fr/hal-00385005

B. Andriopoulos, E. Corradini, and Y. Xia, BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism, Nat Genet, vol.41, pp.482-487, 2009.

C. Piubelli, A. Castagna, G. Marchi, M. Rizzi, F. Busti et al., Identification of new BMP6 pro-peptide mutations in patients with iron overload, American journal of hematology, vol.92, issue.6, pp.562-568, 2017.

S. Canali, Endothelial cells produce bone morphogenetic protein 6 required for iron homeostasis in mice, Blood, vol.129, pp.405-414, 2017.

I. Qiagen, Manual do Mini Kit DSP DNA de sangue QIAamp®, pp.1-27, 2004.

Y. Kobayashi, S. Yang, K. Nykamp, J. Garcia, S. E. Lincoln et al., Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation, Genome Med, vol.9, issue.1, p.13, 2017.

S. Richards, N. Aziz, and S. Bale, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American Journal Pre-proof Genetics and Genomics and the Association for Molecular Pathology, Genet Med, vol.17, issue.5, pp.405-424, 2015.

R. Daher, C. Kannengiesser, D. Houamel, T. Lefebvre, E. Bardou-jacquet et al., Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans, Gastroenterology, vol.150, issue.3, pp.672-683, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01231430

C. J. Mcdonald, G. Rishi, E. S. Secondes, L. Ostini, D. F. Wallace et al., Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading, Hum Genomics, vol.12, issue.1, p.23, 2018.

. Hamdi-rozé and . Houda, Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis, American journal of hematology, vol.91, pp.1202-1205, 2016.