Haemochromatosis: The causes and risk factors

Haemochromatosis causes the body to absorb and store too much iron. The extra iron builds up in the body’s organs and damages them. Without treatment, the disease can cause the liver, heart and pancreas to fail in a patient’s 70s or 80s.

Iron is one of the most common elements in soil, and too much can be toxic. Healthy people usually absorb around 10% of the iron from their food. People with haemochromatosis absorb up to 30%. Over time, they can retain up to 20 times more iron than the body needs.

Because the body has no natural way to rid itself of this excess of iron, it’s stored in body tissues, specifically the liver, heart and pancreas. Fortunately, it takes many decades before there’s any clinical damage.

What causes haemochromatosis?

Haemochromatosis is usually caused by a defect in a gene known as HFE. People who inherit this defect from both parents tend to absorb too much iron, which can lead to haemochromatosis. Inheriting the gene from just one parent means the person carries the disease, but does not suffer from it themselves.

Babies and young children with the condition don’t get it from mutated HFE. In these cases, it is instead caused by a mutation in a gene called haemojuvelin.

What are the risk factors of haemochromatosis?

Haemochromatosis is one of the most common genetic disorders around. In fact, 1 in 200 are likely to get the disease, and as many as 1 in 10 could be carrying it.

However, while the numbers might seem alarming, the disease tends to be diagnosed and treated long before any serious illness can occur.

What are the symptoms of haemochromatosis?

Joint pain is the most common complaint. There’s also fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. However, most people have no symptoms when they are diagnosed due to early screening.

If the disease is not detected and treated early, iron has a chance to accumulate in the body and eventually lead to serious problems such as:

• Arthritis
• Liver disease
• Heart abnormalities
• Impotence
• Early menopause
• Abnormal pigmentation of the skin
• Thyroid deficiency
• Adrenal gland problems
• Pancreatic problems, possibly causing diabetes

How is haemochromatosis diagnosed?

A thorough medical history, physical exam, and blood tests help us to rule out other conditions that could be causing the symptoms. This often provides helpful clues, such as a family history of arthritis or liver disease.

Blood tests can tell us whether there’s too much iron in the body. Follow-up tests tell us how much iron is bound to the protein that carries iron in the blood.

If any tests say that there’s too much iron in the body, doctors can order a special blood test to detect the HFE mutation. If the mutation is not present, hereditary haemochromatosis is not the reason for the iron build up and the doctor will look for other causes.

A special liver scan may be appropriate to assess the overall iron load or fibre content.

A liver biopsy may be needed. This is where a tiny piece of liver tissue is removed and examined with a microscope. The biopsy will show how much iron has accumulated in the liver and whether it is damaged.

Once it has developed, the disease is usually treated by a hepatologist, a gastroenterologist, or a Haematologist. Because of the other problems associated with the condition, other specialists may be involved too, such as an endocrinologist, cardiologist or rheumatologist.

Now that its frequency has been recognised and a gene test has become available, the disorder is usually treated early to prevent any complications.

How is haemochromatosis treated?

Treatment is simple, inexpensive and safe. The first step is to rid the body of excess iron. This process is called phlebotomy, which means removing blood the same way you might donate it. Depending on how much iron there is in your system, a pint of blood will be taken once a week for several months to a year. The goal is to bring blood iron down to regular levels and keep them there.

Once iron levels are back to normal, therapy begins. This involves giving a pint of blood every 3 months. You’ll also need to see a specialist regularly.

It may go without saying, but people with haemochromatosis should not take iron supplements.