Haemochromatosis

What is haemochromatosis?

Haemochromatosis is one of the most common genetic disorders. It most commonly affects people of white northern-European backgrounds. 

It is caused by a faulty gene that leads to a build-up of iron in the body. Hemochromatosis can be difficult to diagnose as the symptoms can be vague or mimic other medical conditions.

If you have haemochromatosis and it is not treated, then over time the iron can build up in different organs, leading to damage.

Most commonly affected is the liver, which can lead to scarring and cirrhosis. This long-term damage can cause liver failure or even liver cancer.

The heart, pancreas, and joints can also be effected. If you have the symptoms of haemochromatosis our specialist doctors from London Haematology will take the time to listen to your concerns. 

Together we will decide the best plan to investigate and, if needed, treat your symptoms. An expert multidisciplinary team will support you from your first consultation, during your treatment and throughout your recovery. 

Causes

For the majority of people with haemochromatosis it is usually due to inheriting faulty genes that controls the absorption of iron. This is called primary haemochromatosis.

If you have primary haemochromatosis it is most likely that you inherited two faulty genes, one from each parent. 

These genes cause you to absorb more iron from your diet, which gets deposited in the tissues of your body. Rarely, haemochromatosis can be due to another condition. This is called secondary haemochromatosis. 

Causes can include conditions that cause your red cells to break down (haemolysis), conditions that require lots of blood transfusions (such as sickle cell anaemia), or significantly raised iron in your diet.

Symptoms

Although the faulty genes causing haemochromatosis are present from birth, the iron builds up slowly in your body. 

This can mean that it can take a long time before symptoms start. Often symptoms only begin to show when you are in your 30s or older.

Symptoms can include:
•    Tiredness and fatigue
•    Feeling of weakness in your limbs
•    Joint pain
•    Abdominal pain
•    Low libido
•    Erectile dysfunction
•    Early menopause

Very occasionally you might have symptoms of damage to organs such as the liver, heart or pancreas. 

Diagnosis

You may decide to speak to one of our haemochromatosis specialists if you have a family member who has been diagnosed with the condition, or if you are experiencing some of the symptoms.

Our specialist doctors will take a full history to understand the cause of your concerns. Your doctor will examine you to look for any signs of haemochromatosis.

There are several tests that your specialist may want to perform to diagnose haemochromatosis:

•    Transferritin saturation – measures the amount of a protein in your blood that has iron bound to it
•    Serum ferritin – measures a storage protein which increases with the amount of iron in your body
•    Genetic tests – to identify if you carry the faulty gene that causes haemochromatosis
•    Liver function tests – these blood tests can give an indication if liver damage has occurred

If your iron levels are very high, or there are signs of damage on your liver function tests, your specialist may decide that a liver biopsy (needle sample) is required.

Treatments

If you have haemochromatosis, it can be treated by removing iron from your body. This can be done by phlebotomy, which is like blood donation, where a unit of blood is removed (usually about 500ml). 

Your body then uses up iron to replace your red blood cells. You will have to have blood taken at regular intervals. Chelating drugs are also used to remove iron for your body. 

These medicines bind to iron in your blood and increase the rate that it is lost through your urine and poo. Your specialist may also advise you to make changes to your diet and avoid foods with added iron.