Haemochromatosis

Key points

• Haemochromatosis is a condition you inherit from your parents
• It means there is too much iron in your body
• Too much iron can cause serious damage to your organs, including the liver, heart, joints and pancreas
• Haemochromatosis is treated by removing blood to reduce the amount of iron in the body
• Reducing the amount of iron in the body means people with haemochromatosis can lead a normal, happy life
• Reducing the amount of iron in the body will prevent or reverse damage to your liver and other organs

What is haemochromatosis?

We all know that not enough iron causes health problems. But for some people, too much iron is also a problem.

We get iron from our daily diet. It’s used in the body to make haemoglobin, a protein in red blood cells that carries oxygen around the body.

The body is finely tuned to take in only as much iron as it needs. The human body has no way of getting rid of iron it doesn’t need. Any extra is stored in organs and joints.

If you have haemochromatosis, your body absorbs much more iron from your food than it needs. Organs such as the liver, heart and pancreas can be affected and ultimately damaged.

The most common problems are liver fibrosis, cirrhosis and liver cancer, as well as arthritis. These problems can develop gradually over many years.

Haemochromatosis is the most common genetic disorder in Australia. About 1 in 200 people of northern European origin have genes that put them at risk for haemochromatosis.

What are the symptoms of haemochromatosis?

People are born with haemochromatosis but it can take 20 or 30 years for symptoms to develop. Some people never get symptoms.

Most commonly, people are diagnosed with haemochromatosis when they are found to have an abnormal blood test, or because someone in their family has been diagnosed with haemochromotosis.

When symptoms do occur, they are caused by the high levels of iron. The symptoms are similar to those caused by a range of other illnesses. So haemochromatosis can be hard to diagnose.

The most common early symptoms noticed by people with haemochromatosis are:

• feeling very tired and weak
• joint pains and swelling, especially in the knuckles of the index and middle fingers

As the disease gets more serious, symptoms may develop including:

• belly pain
• loss of sex drive
• impotence or shrinking testicles in men
• no periods/light periods/early menopause women
• less body hair
• grey or bronze colour of the skin

To much iron can cause enlarged liver, cirrhosis, liver failure and liver cancer. If your liver is affected, symptoms might include:

• yellow skin and eyes (jaundice)
• belly pain
• swollen belly
• bleeding from the food pipe/ blood in vomit
• easy bruising
• pain in the liver (upper right side of the belly)

If it’s not treated, haemochromatosis can lead to other conditions. It depends which organs are affected. Some conditions include:

• osteoarthritis (painful and swollen joints)
• diabetes (high blood sugar, feeling very thirsty, needing to wee a lot)
• heart problems (cardiomyopathy, problems with the heart muscle)
• brain problems (bad memory, mood swings, severe irritability, depression)

These symptoms all take time to develop. Symptoms will be different from person to person.

How is haemochromatosis diagnosed?

Talk to your doctor if you have symptoms of haemochromatosis or if you have a close relative (particularly a brother or sister) with the condition.

Screening for haemochromatosis needs 2 blood tests, a ferritin level and a transferrin saturation. If both are high, they should be repeated another day in the morning. If they stay high, then you will need a genetic blood test to confirm haemochromatosis.

You might get symptoms if your ferritin level is between 300 and 1,000 µg/L. You can get significant organ damage if your ferritin level is above 1,000 µg/L.

If you do have haemochromatosis, your doctor will order further tests to check your liver function. These may include a blood test or an MRI scan to look for liver damage and how much iron is in the liver.

If your doctor suspects you have liver damage, you may have a liver biopsy.

Why did I get haemochromatosis?

Haemochromatosis is caused by an abnormal gene called HFE. To get the condition, you must receive 2 copies of the abnormal gene, 1 from each parent. If you only have 1 gene, you are a carrier. You won’t develop the condition, but you can pass the gene to your children.

If you have haemochromatosis, you will only pass it to your children if your partner also has the abnormal gene. If both of you have the abnormal gene:

• the risk of your child having haemochromatosis is 25% with each pregnancy
• the risk to your child of being a carrier is 50% with each pregnancy
• the change of receiving normal genes from both parents is 25% with each pregnancy

Both sexes are at risk from haemochromatosis. Women tend to develop the condition later in life because of blood loss during child-bearing years. However, some women will develop symptoms at an early age.

It is recommended that first degree (close) relatives of someone diagnosed with haemochromatosis are tested for the abnormal gene. This includes parents, brothers and sisters, and adult children.

Newborn babies and children may have a form of haemochromatosis that is not caused by anormal HFE genes. In these cases, other genes may be responsible.

Sometimes iron overload can happen if someone needs multiple blood transfusions, for example, to treat anaemia or other chronic conditions.

How is haemochromatosis treated?

The good news is that if haemochromatosis is found before damage occurs, it can be easily treated and most symptoms will get less or disappear.

Treatment is done by regularly having blood removed, called venesection or phlebotomy. It’s similar to donating blood. Up to 500mL (2 cups) of blood is taken at regular intervals until the ferritin levels in the blood return to within the normal range.

You might need up to 18 months of giving blood once or twice a week. Once your iron levels are normal, you might give blood 3 or 4 times a year your whole life.

Some people can’t give blood because they have other medical conditions. These people can take a medicine a reduce iron in their blood.

Treatment can reverse liver damage. But if you have developed cirrhosis, haemochromatosis puts you at more risk of liver cancer. Anyone with cirrhosis should have regular screening for liver cancer with an ultrasound and a blood test every 6 months.

Living with haemochromatosis

You don’t need to eat special food – research shows it’s not necessary to cut down on iron in your diet. However, it’s a good idea to:

• avoid supplements that contain iron or vitamin C
• avoid raw seafood, as it can contain bacteria called vibrio vulnificus. These bacteria can cause serious infections in people who have haemochromatosis
• cut down on alcohol if you have iron overload. That’s because alcohol makes your body absorb more iron

Additional information and support

• Haemochromatosis Australia 1300 019 028

What next?

Reviewed November 2022