What are the tests?
These consist of a simple blood test called a serum iron profile ideally performed after an overnight fast.
This is an iron transport protein, which carries iron when taken from the gut to the bone marrow and the liver. Transferrin saturation above 50% in women and above 55% for men fasting is very suggestive of haemochromatosis.
If the above blood tests suggest that the liver is likely to contain excess iron or other blood tests imply any degree of liver inflammation then a liver biopsy is performed. The test involves removing a small piece of liver tissue with a special biopsy needle. This is then examined under a microscope and the iron concentration is measured chemically. The result enables doctors to assess the amount of iron overload and to see if any damage has occurred to the liver. It can exclude any other causes of abnormal test results.
There is now a simple genetic test result that can identify the mutation in the gene responsible for causing the absorption of too much iron. This involves a blood test or a simple finger prick test where a small drop of blood is applied to a card. The great benefit of this test is that it allows for whole families to be screened, and therefore early detection of the disease before symptoms and tissue damage occur.