Hereditary hemochromatosis: Laboratory evaluation

Thomas P. Moyer, W. Edward Highsmith, Thomas C. Smyrk, John B. Gross

Research output: Contribution to journalReview article

19 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1485-1492
Number of pages8
JournalClinica Chimica Acta
Volume412
Issue number17-18
DOIs
StatePublished - Aug 17 2011

Keywords

  • HFE gene
  • Hepatic iron
  • Hereditary hemochromatosis
  • Iron overload

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

Fingerprint Dive into the research topics of 'Hereditary hemochromatosis: Laboratory evaluation'. Together they form a unique fingerprint.

  • Cite this

    Moyer, T. P., Highsmith, W. E., Smyrk, T. C., & Gross, J. B. (2011). Hereditary hemochromatosis: Laboratory evaluation. Clinica Chimica Acta, 412(17-18), 1485-1492. https://doi.org/10.1016/j.cca.2011.04.007