Current understanding of hemachormatosis incorporates the fact that some 30% of patients with familial occurrence of iron overload associated with C282Y homozygosity or C282Y/H63D compound heterozygosity never develop symptoms of the disease and this number is higher in menstruating females. It is also now appreciated that this is a disease with a long horizon before organ damage occurs and that close followup makes immediate diagnosis unnecessary in all comers. Consequently guidelines recommend screening for hemochromatosis only in patients with abnormal iron studies, liver disease or end organ damage.
National Institute of Diabetes, Digestive and Kidney Diseases. Hemochromatosis.Last Update: March 2014. Available at: http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/ Accessed March 24, 2016.
Bruce R Bacon, et al, Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul; 54(1): 328–343.
Bardou-Jacquet E, Morcet J, Manet G, et al. Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis. J Hepatol 2015; 62:682.