What is haemochromatosis?

Haemochromatosis is an inherited condition where the iron levels in your body build-up over many years. This build-up of iron is called iron overload. If not treated, this extra iron can lead to organ damage.

The human body controls iron levels by taking in just the right amount of iron from food. It has no way of getting rid of excess iron — any excess is stored in your organs and joints.

Haemochromatosis can lead to too much iron being taken in and stored.

What are the symptoms of haemochromatosis?

Most people don't develop symptoms until they are between 30 and 60 years old.

Early symptoms may include:

• tiredness
• weight loss
• weakness
• pain in your joints
• erectile dysfunction (being unable to get or keep an erection)
• irregular periods
• depression and anxiety

Later problems may include:

• loss of libido (sex drive)
• pain in your abdomen (tummy)
• unexplained tanning of your skin if you usually have pale skin
• feeling thirsty all the time
• chest pain and shortness of breath

What causes haemochromatosis?

Haemochromatosis is caused by a faulty gene that affects how your body absorbs iron from food. It is the most common genetic condition in Australia.

Haemochromatosis most often affects people of white, northern European background.

You're at risk of getting haemochromatosis if:

• both of your parents have the faulty gene AND
• you inherit a copy from each of them

However, you will not necessarily get haemochromatosis. Only some people with 2 copies of this faulty gene develop the condition. It's not known exactly why this is.

If you only inherit one copy of the faulty gene, you will not get haemochromatosis. But there's a chance you could pass the faulty gene on to any children you have.

When should I see my doctor?

See your doctor if you have:

• symptoms that could be caused by haemochromatosis
• a parent or sibling with haemochromatosis, even if you don't have any symptoms

Tests can be done to check if you're at risk of getting haemochromatosis. Many cases of haemochromatosis are diagnosed this way.

Can I be screened for haemochromatosis?

If someone in your family has haemochromatosis, you can have genetic testing to see if you carry the gene.

Screening is advised for siblings (brothers and sisters) and children of people with haemochromatosis.

How is haemochromatosis diagnosed?

A blood test can show much iron is in your blood. You will also need other tests such as:

• a liver MRI scan
• ECG and echocardiogram tests
• A bone densitometry test

Sometimes a liver biopsy (taking a small tissue sample) is done to see if there is damage to the liver.

How is haemochromatosis treated?

There is no cure for haemochromatosis, but treatments can keep it under control.

In the early stages, the main goal of treatment is to avoid iron overload. Lifestyle adjustments (see below) and monitoring may be all that is needed.

In later stages of the disease there are 2 main treatments.

1. Phlebotomy (also called venesection) — this is when you have some blood taken out of your body regularly. This may need to be done every week at first. You may need to have this done 2 to 4 times a year for the rest of your life.
2. Chelation therapy — where you take medicine to lower the amount of iron in your body. This is only done if it's not easy for you to regularly get some of your blood removed.

Lowering your iron levels can lead to an improvement in your health.

Lifestyle modifications

You can help maintain your health by:

• avoiding iron-containing supplements
• avoiding vitamin C supplements, as these increase iron absorption in your intestine
• avoiding breakfast cereals containing added iron
• limiting your alcohol intake or stopping drinking alcohol completely if your liver is damaged

Your doctor may also suggest that you are vaccinated against:

• hepatitis A
• hepatitis B

Can haemochromatosis be prevented?

Haemochromatosis is a genetic condition, meaning you are born with the genes that cause it. But only some people with faulty genes develop the condition, and early treatment can help prevent serious problems from haemochromatosis.

Complications of haemochromatosis

Without treatment, haemochromatosis can cause organ damage. This can lead to:

• cirrhosis (scarring of your liver)
• diabetes from damage to the pancreas
• congestive heart failure
• hepatocellular carcinoma (liver cancer)
• loss of libido (sex drive) or hypogonadism (testicular atrophy)
• loss of bone density
• infections with certain germs

Resources and support

Contact Haemochromatosis Australia to get more information about support groups for haemochromatosis.

Call the Liver Foundation's free support line on 1800 841 118 to speak to a liver nurse.

If you want to know more about haemochromatosis, you can call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.