My dad was complaining of feeling exhausted for some time. But when we noticed his skin colouring had changed to a strange shade of bronze, we persuaded him to see his doctor. He has been diagnosed as suffering from haemochromatosis. What is this and is it serious?
Haemochromatosis is a condition where too much iron has accumulated in the tissues. A normal level of iron in the body is between 3g and 4g, while in someone with haemochromatosis this level could rise to as much as 20g. There are two types of haemochromatosis. The first is caused by a hereditary condition which causes the body to absorb too much iron from the digestive system. The excess iron is then stored in organs and tissues. Secondary or acquired haemochromatosis develops when there is an overload of iron either from the diet, iron tablets or repeated blood transfusions.
My dad is thought to have the hereditary type. Can I find out if I'm going to develop it?
Some people only have one gene that causes the condition, and while they do not have the condition themselves they are carriers. When a person has two genes with the disorder then they will develop symptoms of varying degrees. Some may not ever be aware that they have the condition, while others exhibit symptoms between the ages of 30 and 60. First degree relatives of those with haemochromatosis should see their doctors about being screened for the condition. Blood tests to assess specific iron levels or genetic testing may be done to ascertain whether you are a carrier or someone who may suffer with the condition later in life.
What happens if it's not treated?
An overload of iron accumulating in the organs can cause problems depending on which organs are affected. If left untreated iron in the liver can cause cirrhosis, while if it is stored in the pancreas it can lead to diabetes. Iron accumulated in the heart can cause heart problems. Additional stores of iron in the pituitary gland can lead to loss of libido and impotence. Excess iron can be stored in the skin leading to a bronzed or grey complexion. Treatment involves the removal of about a half a litre of blood weekly until the blood iron levels drop to a normal level. This can take some time but once they have stabilized, the condition will be monitored and blood will be taken on an episodic basis to maintain the iron at normal levels.