P. Brissot, E. Bardou-jacquet, A. M. Jouanolle, and O. , Iron disorders of genetic origin: a changing world, Trends in Molecular Medicine, vol.17, issue.12, pp.17-707, 2011.
DOI : 10.1016/j.molmed.2011.07.004

URL : https://hal.archives-ouvertes.fr/hal-00739428

E. Bardou-jacquet, Z. B. Ali, M. P. Beaumont-epinette, O. Loreal, A. M. Jouanolle et al., Non-HFE hemochromatosis: Pathophysiological and diagnostic aspects, Clinics and research in hepatology and gastroenterology, pp.38-143, 2014.

K. Gkouvatsos, G. Papanikolaou, and K. Pantopoulos, Regulation of iron transport and the role of transferrin, Biochimica et Biophysica Acta (BBA) - General Subjects, vol.1820, issue.3, pp.1820-188, 2012.
DOI : 10.1016/j.bbagen.2011.10.013

E. Beutler, T. Gelbart, P. Lee, R. Trevino, M. A. Fernandez et al., Molecular characterization of a case of atransferrinemia, Blood, pp.96-4071, 2000.

A. Hayashi, Y. Wada, T. Suzuki, and A. Shimizu, Studies on familial hypotransferrinemia: unique clinical course and molecular pathology, American journal of human genetics, pp.53-201, 1993.

R. L. Hamill, J. C. Woods, and B. A. Cook, Congenital Atransferrinemia A Case Report and Review of the Literature, American Journal of Clinical Pathology, vol.96, issue.2, pp.96-215, 1991.
DOI : 10.1093/ajcp/96.2.215

N. Goya, S. Miyazaki, S. Kodate, and B. Ushio, A family of congenital atransferrinemia, Blood, pp.40-239, 1972.

M. Rojas, E. S. Sanchez, and . Edison, Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications, British journal of haematology, pp.163-404, 2013.

J. B. Montgomery, P. M. Whitfield, and . Visscher, Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels, American journal of human genetics, vol.84, pp.60-65, 2009.

T. B. Bartnikas, N. C. Andrews, and M. D. Fleming, Transferrin is a major determinant of hepcidin expression in hypotransferrinemic mice, Blood, vol.117, issue.2, pp.117-630, 2011.
DOI : 10.1182/blood-2010-05-287359

Z. I. Breuer, P. Cabantchik, and . Brissot, Redox active plasma iron in C282Y/C282Y hemochromatosis, Blood, pp.105-4527, 2005.

S. Jacolot, G. L. Gac, V. Scotet, I. Quere, C. Mura et al., HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype, Blood, vol.103, issue.7, pp.103-2835, 2004.
DOI : 10.1182/blood-2003-10-3366

J. J. Chapman, V. L. Pointon, K. J. Wimhurst, V. Livesey, J. Tanphaichitr et al., Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis, Human molecular genetics, pp.12-2241, 2003.