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Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE).

Abstract : The management and understanding of hereditary hemochromatosis have evolved with recent advances in iron biology and the associated discovery of numerous genes involved in iron metabolism. HFE-related (type 1) hemochromatosis remains the most frequent form, characterized by C282Y mutation homozygosity. Rare forms of hereditary hemochromatosis include type 2 (A and B, juvenile hemochromatosis caused by HJV and HAMP mutation), type 3 (related to TFR2 mutation), and type 4 (A and B, ferroportin disease). The diagnostic evaluation relies on comprehension of the involved pathophysiologic defect, and careful characterization of the phenotype, which gives clues to guide appropriate genetic testing.
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https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134766
Contributor : Laurent Jonchère <>
Submitted on : Tuesday, March 24, 2015 - 11:29:43 AM
Last modification on : Wednesday, May 16, 2018 - 11:23:30 AM

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Edouard Bardou-Jacquet, Pierre Brissot. Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE).. Hematology/Oncology Clinics of North America, WB Saunders, 2014, 28 (4), pp.625-35, v. ⟨10.1016/j.hoc.2014.04.006⟩. ⟨hal-01134766⟩

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