Hereditary hemochromatosis: Laboratory evaluation

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

Research output: Contribution to journalArticle

19 Citations (Scopus)

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

Fingerprint

Hemochromatosis
Iron
Hepcidins
Iron Overload
Transferrin
Ferritins
Genes
Serum
Liver
Clinical laboratories
Hepatitis
Biopsy
Hepatocytes
Proteins
Magnetic resonance imaging
Urine
Mutation
Modulation
Wounds and Injuries
Monitoring

Keywords

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

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Moyer, T. P., Highsmith, W. E. J., 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

Hereditary hemochromatosis : Laboratory evaluation. / Moyer, Thomas P.; Highsmith, W Edward Jr.; Smyrk, Thomas Christopher; Gross, John B.

In: Clinica Chimica Acta, Vol. 412, No. 17-18, 17.08.2011, p. 1485-1492.

Research output: Contribution to journalArticle

Moyer, TP, Highsmith, WEJ, Smyrk, TC & Gross, JB 2011, 'Hereditary hemochromatosis: Laboratory evaluation', Clinica Chimica Acta, vol. 412, no. 17-18, pp. 1485-1492. https://doi.org/10.1016/j.cca.2011.04.007
Moyer TP, Highsmith WEJ, Smyrk TC, Gross JB. Hereditary hemochromatosis: Laboratory evaluation. Clinica Chimica Acta. 2011 Aug 17;412(17-18):1485-1492. https://doi.org/10.1016/j.cca.2011.04.007
Moyer, Thomas P. ; Highsmith, W Edward Jr. ; Smyrk, Thomas Christopher ; Gross, John B. / Hereditary hemochromatosis : Laboratory evaluation. In: Clinica Chimica Acta. 2011 ; Vol. 412, No. 17-18. pp. 1485-1492.
@article{0ef1bf21bcdd41c3a7659e45d6b3655c,
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.",
keywords = "Hepatic iron, Hereditary hemochromatosis, HFE gene, Iron overload",
author = "Moyer, {Thomas P.} and Highsmith, {W Edward Jr.} and Smyrk, {Thomas Christopher} and Gross, {John B.}",
year = "2011",
month = "8",
day = "17",
doi = "10.1016/j.cca.2011.04.007",
language = "English (US)",
volume = "412",
pages = "1485--1492",
journal = "Clinica Chimica Acta",
issn = "0009-8981",
publisher = "Elsevier",
number = "17-18",

}

TY - JOUR

T1 - Hereditary hemochromatosis

T2 - Laboratory evaluation

AU - Moyer, Thomas P.

AU - Highsmith, W Edward Jr.

AU - Smyrk, Thomas Christopher

AU - Gross, John B.

PY - 2011/8/17

Y1 - 2011/8/17

N2 - 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.

AB - 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.

KW - Hepatic iron

KW - Hereditary hemochromatosis

KW - HFE gene

KW - Iron overload

UR - http://www.scopus.com/inward/record.url?scp=79959287716&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79959287716&partnerID=8YFLogxK

U2 - 10.1016/j.cca.2011.04.007

DO - 10.1016/j.cca.2011.04.007

M3 - Article

C2 - 21510925

AN - SCOPUS:79959287716

VL - 412

SP - 1485

EP - 1492

JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

SN - 0009-8981

IS - 17-18

ER -