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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Prevalence

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

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Finding	Sensitivity	Specificity	Comments, Study
C282Y Homozygosity	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
Liver Iron Content	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
Liver MRI T2 Relaxation	94%	100%	compared to quantitative liver iron content Study: Ann N Y Acad Sci. 2005;1054:379-85. PMID: 16339686
Transferrin, high saturation Duplicate	100%	95%	sat >= 46% Study: Hepatology. 2000 May;31(5):1160-4 PMID: 10796893
Transferrin, high saturation Duplicate	64%	95%	sat >= 46% Study: Hepatology. 2000 May;31(5):1160-4 PMID: 10796893
Unbound Iron Binding Capacity Duplicate	100%	99%	UIBC <= 25 in men - for detecting C282Y homozygotes Study: Hepatology. 2000 May;31(5):1160-4 PMID: 10796893
Unbound Iron Binding Capacity Duplicate	73%	96%	UIBC <= 28 in women - for C282Y homozygotes Study: Hepatology. 2000 May;31(5):1160-4 PMID: 10796893