Haemochromatosis

Hereditary haemochromatosis occurs when your body absorbs and improperly stores too much iron from the food you eat. Over time this leads to iron overload.

Extra iron is stored in areas of the body where it can cause problems, such as the liver, heart, pancreas, pituitary gland and other organs. Without treatment hereditary haemochromatosis can lead to more serious conditions (such as diabetes, liver poisoning and cancer), which can cause significant and life-threatening organ damage.

Hereditary haemochromatosis is more common among Caucasians and is also known as familial haemochromatosis or inherited iron overload disorder.

To diagnose hereditary haemochromatosis you doctor will order a series of blood tests. These tests include:

• Transferrin is a protein that carries iron in the blood. A transferrin saturation (TS) test shows how much iron the transferrin is carrying
• A serum iron test measures how much iron is present in the blood
• A serum ferritin test measures the amount of iron the body has stored

If blood tests show you have an iron overload and/or you have a family history of haemochromatosis, then genetic testing (HFE studies) may be required to confirm your diagnosis.

Other tests, such as a liver function test and blood sugar, may also be conducted to understand the full picture of your current health. MRI scan can be done to determine the level of iron in the liver.

If you have been diagnosed with haemochromatosis, regular blood removal (or venesection) is used to lower your iron to a normal level. The procedure for blood removal is similar to blood donation, where 450-500mls of blood is removed until the iron in the blood is reduced to normal.

The amount of blood removed and how often it is removed depends on your age, overall health and how severe your iron overload condition is. It may take a year or longer to reduce the iron in your body to normal levels.

People with haemochromatosis need to have their ferritin iron levels monitored regularly by their doctor.