Serum ferritin values reflect an increase in hepatic iron content and have a significant false positive rate because of elevations due to inflammation. Thus, in patients with evidence of liver disease, hemochromatosis genotyping should only be performed among individuals with an elevated ferritin and fasting transferrin saturation >45% (TSat) or a known family history of HFE-associated hereditary hemochromatosis.

Conditions: Hereditary hemochromatosis

Diagnostic Tests: Hemochromatosis, HFE genotyping, serum ferritin, fasting transferrin saturation (TSat)

Sources

• Adams PC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med. 2005 Apr 28;352(17):1769-78. (PubMed)
• Bacon BR, 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):328-43. (PubMed)