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The tests below are used to detect and diagnose hemochromatosis and evaluate body organs for the severity of iron overload. They may also be used to monitor the effectiveness of treatment.

  1. Iron studies- Serum iron, Total Iron Binding Capacity (TIBC), Ferritin, transferrin saturation. Fasting samples are preferred due to the diurnal variation of circulating iron, unless ferritin level is requested on its own. Ferritin
  2. Liver Function Tests (LFT)- Could become abnormal e.g. elevated ALT and AST
  3. Genetic testing- This is done for HH. Most laboratories test for C282Y mutation and H63D mutation in the HFE genes; See “The HFE Gene”above. This done through a blood test which can be used in identifying family members (For first and second degree relatives of an index case,) at risk. Genetic testing may be used to confirm a diagnosis, but many people who have genetic mutations associated with the disease never develop symptoms.
  4. Liver biopsy and MRI — Assessment of iron overload status has traditionally been undertaken using percutaneous liver biopsy.  But there is a non-invasive reasonably accurate measure of liver iron loading status through magnetic resonance imaging (MRI) of the liver using a newly patented technique called Ferriscan® now. While it is usually not necessary to confirm the diagnosis by examination of a liver biopsy specimen for iron accumulation, a biopsy is often done to help determine the extent of liver damage.

Close family members including parents, siblings and children should be screened for haemochromatosis by measuring the transferrin saturation and serum ferritin, and in some cases by genetic testing.

Last Review Date: June 8, 2019