The goals with testing are to detect and diagnose hemochromatosis, to evaluate body organs for the severity of iron overload, and to monitor the effectiveness of Treatment.
Laboratory testing typically includes:
- Transferrin saturation — this test measures the amount of iron bound to transferrin, a protein that transports iron. It is elevated with hereditary hemochromatosis (HH) but not specific for it.
- Ferritin — this test is used to evaluate the body's iron stores. It may be elevated with HH but not specific for it. In those who have HH genes, normal levels mean low risk for developing any disease.
- Liver panel — a group of tests used to evaluate liver function
- Genetic testing — can be used to help confirm a diagnosis of HH. Most cases of HH, about 80-90%, are caused by a C282y mutation in the HFE gene. The presence of the C282Y mutation does not necessarily mean that a person will develop the disorder but does indicate an increased risk, and men are more likely to be affected than women. The largest population study found about a 30% risk among men and <5% risk among women. Sometimes an H63D or S65C mutation of the HFE gene or paired combinations of the three may cause HH. Rarely, the condition may be due to another genetic abnormality.
- Liver biopsy — in some cases, the diagnosis is confirmed by examination of a liver biopsy specimen for iron and liver damage.
Rarely, an MRI (magnetic resonance imaging) test may be used to help evaluate the amount of iron in the liver.