title: Hereditary hemochromatosis: laboratory evaluation.
abstract: The condition of hereditary hemochromatosis (HH) is caused by gene-dependent protein abnormalities involved in iron absorption, storage, or modulation of iron; these abnormalities result in iron overload. The clinical laboratory plays a significant role in case finding, diagnostic validation, and monitoring HH therapy. Elevated serum iron, transferrin saturation, and ferritin suggest HH, but results can also indicate other forms of hepatocyte injury such as alcoholic or viral hepatitis, or other inflammatory disorders involving the liver. In the context of elevated serum iron, transferrin saturation, and ferritin, and after ruling out secondary causes of iron overload, HFE gene evaluation is the preferred test to confirm the diagnosis of HH. However, 5% to 15% of patients with phenotypic HH do not have HFE gene mutations. In these cases, MRI evaluation or liver biopsy with iron quantification is indicated. The clinical role of hepcidin, the iron modulating protein, is undetermined at this time. Because hepcidin also plays a key role in antimicrobial and inflammatory activities, interpretation of hepcidin serum or urine concentration will require thorough understanding of its complex role in iron regulation.
authors.affiliation: Department of Laboratory Medicine & Pathology, Division of Clinical Biochemistry & Immunology, Mayo Clinic, Rochester, MN 55905, United States. moyer.thomas@mayo.edu
authors.forename: Thomas P
authors.initials: TP
authors.lastname: Moyer
authors.forename: W Edward
authors.initials: WE
authors.lastname: Highsmith
authors.forename: Thomas C
authors.initials: TC
authors.lastname: Smyrk
authors.forename: John B
authors.initials: JB
authors.lastname: Gross
mesh_terms: D023181:Antimicrobial Cationic Peptides / Q000378:metabolism; D003300:Copper / Q000378:metabolism; D005293:Ferritins / Q000378:metabolism; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D064451:Hepcidins; D006801:Humans; D007501:Iron / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D018962:Phlebotomy; D014168:Transferrin / Q000378:metabolism
chemical_list: D023181:Antimicrobial Cationic Peptides; C578702:HAMP protein, human; D064451:Hepcidins; D014168:Transferrin; D003300:Copper; D005293:Ferritins; D007501:Iron