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.
|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