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

Edouard Bardou-Jacquet, Pierre Brissot

Journal: Hematology/oncology clinics of North America 2015;28(4):625-35, v

PMID: 25064704

Full Text on Elsevier Science View on PubMed

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.

Address: CHU 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. Electronic address: [email protected].; CHU 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.

DOI: 10.1016/j.hoc.2014.04.006

Link outs

Free resources

Medical:

https://medlineplus.gov/hemochromatosis.html

Other Literature Sources:

https://scite.ai/reports/25064704

Subscription / membership required

Full Text Sources:

MeSH Terms: Genetic Testing, Hemochromatosis, Humans, Iron