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Hemochromatosis: Sensitivity and Specificity

Introduction: Hemochromatosis is a condition in which the body accumulates too much iron. Hereditary hemochromatosis, most commonly caused by the C282Y mutation in the HFE gene, results from increased gut iron absorption. Acquired hemochromatosis can be caused by many blood transfusions. Hemochromatosis principally affects the liver, pancreas, and heart.

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Tags: Hepatic Tag this Diagnosis.

Prevalence

Population / CalculatorPrevalence Comments / Study / Link
C282Y Homozygotes 38% that develop actual hemochromatosis. 10-33% may develop actual morbidity.

Ann Intern Med. 2006 Aug 1;145(3):209-23. PMID: 16880463

Patients with hemochromatosis 82% that have the C282Y mutation in HFE gene: 72.8-91.3%

J Med Genet. 2008 Aug;45(8):513-8. PMID: 18310265

Primary Care Population 0.6% for hereditary hemochromatosis

Ann Intern Med. 2005 Oct 4;143(7):522-36. PMID: 16204165

More, Edit...

The sensitivity and specificity of findings for Hemochromatosis are listed below. See the left navigation bar to change the display.

Sensitive and Specific Findings

Finding SensitivitySpecificity Comments, Study
Liver MRI T2 Relaxation Edit 94%100%

compared to quantitative liver iron content

Study: Ann N Y Acad Sci. 2005;1054:379-85. PMID: 16339686

Unbound Iron Binding Capacity
Duplicate Edit
100%99%

UIBC <= 25 in men - for detecting C282Y homozygotes

Study: Hepatology. 2000 May;31(5):1160-4 PMID: 10796893

Transferrin, high saturation
Duplicate Edit
100%95%

sat >= 46%

Study: Hepatology. 2000 May;31(5):1160-4 PMID: 10796893

Ferritin, high
Duplicate Edit
90%92%

ferritin > 1653 mcg/l for cirrhosis, in a population of asymptomatic C282Y homozygotes.

Study: Arch Intern Med. 2006 Feb 13;166(3):294-301. PMID: 16476869

Specific Findings

Finding SensitivitySpecificity Comments, Study
C282Y Homozygosity Edit 82%98.8%

For a diagnosis of hereditary hemochromatosis, in patients diagnosed with hemochromatosis. Note that there is variable penetrance of the mutation, namely not all patients with the mutation will have hemochromatosis.

Study: J Med Genet. 2008 Aug;45(8):513-8. PMID: 18310265

Unbound Iron Binding Capacity
Duplicate Edit
73%96%

UIBC <= 28 in women - for C282Y homozygotes

Study: Hepatology. 2000 May;31(5):1160-4 PMID: 10796893

Transferrin, high saturation
Duplicate Edit
64%95%

sat >= 46%

Study: Hepatology. 2000 May;31(5):1160-4 PMID: 10796893

Sensitive Findings

Finding SensitivitySpecificity Comments, Study
Ferritin, high
Duplicate Edit
100%77%

ferritin > 1000 mcg/l for cirrhosis, in a population of asymptomatic C282Y homozygotes

Study: Arch Intern Med. 2006 Feb 13;166(3):294-301. PMID: 16476869

Poorly Diagnostic Findings

Finding SensitivitySpecificity Comments, Study
Liver Iron Content Edit 80%78%

iron content > 236 mcmol/g dw for cirrhosis, in a population of asymptomatic C282Y homozygotes.

Study: Arch Intern Med. 2006 Feb 13;166(3):294-301. PMID: 16476869