Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE). - Archive ouverte HAL Access content directly
Journal Articles Hematology/Oncology Clinics of North America Year : 2014

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

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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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hal-01134766 , version 1 (24-03-2015)

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