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

Edouard Bardou-Jacquet1, Pierre Brissot1

  • 1CHU Rennes, French Reference Center for Rare Iron Overload Diseases of Genetic Origin, 2 rue Henri le guilloux, F-35033 Rennes, France; INSERM, UMR 991, 2 rue Henri le guilloux, F-35000 Rennes, France; CHU Rennes, Liver disease department, 2 rue Henri le guilloux, F-35033 Rennes, France.

Hematology/Oncology Clinics of North America
|July 28, 2014
PubMed

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.

Keywords:
FerroportinHFEHemochromatosisHemojuvelinHepcidinPhlebotomyTFR2

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