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



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



Hematology/Oncology Clinics of North America 28(4): 625



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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Accession: 052585700

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PMID: 25064704

DOI: 10.1016/j.hoc.2014.04.006


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