With so many possible symptoms, how is haemochromatosis diagnosed?
Initially, it is more important to determine the presence of excess iron in the body (i.e., haemochromatosis) rather than establishing a diagnosis of genetic haemochromatosis. That is, to start necessary treatment, the doctor only needs to know that a patient has potentially harmful levels of excess iron, not how the excess came about. To test how much iron there is in the body, your doctor will take a small blood sample and have it analysed for serum ferritin’. If this test shows a high level of iron, treatment can then be commenced while further tests are conducted to see if the iron overload is the result of genetic haemochromatosis. These tests may include a liver biopsy to determine if damage has already occurred to the liver (e.g., cirrhosis), and a gene testwhich is a simple blood test for the genetic mutation. This gene test is positive in over 90% of those affected by haemochromatosis, allowing identification of family members at risk of iron overload. It is recommended that y
