Juvenile haemochromatosis

Juvenile haemochromatosis is a rare form of haemochromatosis that affects children and young people. It’s also known as hereditary haemochromatosis type 2.

Symptoms start at a much younger age, usually age 10 to 30. In adult haemochromatosis, any symptoms tend to start between the ages of 30 and 50.

Juvenile haemochromatosis is caused by different gene variants than the adult form. In adult haemochromatosis variants occur in a gene called HFE. In Juvenile haemochromatosis the variants occur in either a gene called HJV or a gene called HAMP.

As well as juvenile haemochromatosis, you might hear this condition called HAMP-related or HJV-related haemochromatosis. As with all other types of haemochromatosis, to have the disease you have to inherit the gene variant from both parents.

Remember – juvenile haemochromatosis is a completely different condition to adult haemochromatosis. It is caused by changes in different genes that mean iron builds up much more quickly.

On this page:

Symptoms
Treatment
Complications
Living with juvenile haemochromatosis

Symptoms of juvenile haemochromatosis

Juvenile haemochromatosis usually shows up in the teens or 20s. It may be picked up because iron has affected the body’s hormones at puberty. This means that the genitals don’t start to develop as they normally would during adolescence. More commonly it is picked up when someone has blood tests for chronic fatigue or tiredness. The disease is then confirmed by doing the genetic tests.

Those with juvenile haemochromatosis can develop any of the symptoms seen in adult haemochromatosis, but at a younger age. Their symptoms are likely to be more severe. They are also more likely to develop bronze or grey skin changes, due to iron build up in the skin. These changes are rare in adult haemochromatosis.

Young people with this type of haemochromatosis are more prone to diabetes. The excess iron can also cause thickening and stiffness in the heart muscle that can lead to heart failure if not treated. In some, heart disease may be the first sign of juvenile haemochromatosis. They may also develop liver disease, which can result in scarring of the liver.

There is more information on juvenile haemochromatosis complications below.

Treatment of juvenile haemochromatosis

As with adult haemochromatosis, treatment aims to get iron levels back within a normal range. This stops any more damage to the organs.

Treatment usually involves regular removal of blood from a vein (phlebotomy or venesection). This is usually weekly and may need to continue for 2 or 3 years after diagnosis or until iron levels return to normal. Some people also need treatment with medicines called iron chelators. These medicines mop up extra iron and help the body get rid of it in pee.

Juvenile haemochromatosis can be more difficult to manage successfully compared to adult haemochromatosis. If organs are badly damaged by high iron levels, it can be permanent. So people with juvenile haemochromatosis often have treatment sessions more often than those with adult haemochromatosis.

Young people with juvenile haemochromatosis will also be treated for any complications they have.

Read more about treatment in adult haemochromatosis.

Complications of juvenile haemochromatosis

Unfortunately, complications are much more common in juvenile haemochromatosis than in the adult form. Young people often have

abnormally low sex hormone levels (hypogonadism)
joint problems
heart problems
diabetes
liver damage

Sex hormone levels

Low hormone levels due to iron overload in juvenile haemochromatosis can cause:

delayed puberty
having fewer periods or not starting their periods
difficulty with getting an erection impotence (in young men)
a lowered sex drive
problems with fertility

These problems can be treated with hormone replacement therapy. In young men, this is testosterone replacement and in young women, treatment with oestrogen and progestogen. As with all haemochromatosis complications, maintaining iron levels as near to normal as possible will also help hormone levels to recover.

Joint problems

Most people with juvenile haemochromatosis will develop joint problems. This is usually at a much younger age than those without haemochromatosis. As with adults, the treatment is with painkillers and anti-inflammatory medicines. In time, they may also need joint replacement surgery if joint problems become severe.

Heart problems

Heart problems are very rare in adult haemochromatosis, but unfortunately more common in juvenile haemochromatosis. The excess iron can affect the electrical signals in the heart, disturbing the rhythm of the heartbeat. In addition the heart muscle may thicken and become stiff (cardiomyopathy), which can lead to heart failure.

If you have juvenile haemochromatosis, your doctor may suggest heart tests such as ECG or heart MRI. Having excess iron removed with regular phlebotomy can help to improve heart problems.

Diabetes

Young people with juvenile haemochromatosis are prone to diabetes and need to have blood sugar levels monitored regularly. If you develop diabetes, you may have treatment with tablets or insulin. Controlling your weight and eating healthily can help to control blood sugar levels. Diabetes specialist doctors and nurses will provide support and information.

Liver damage

Liver damage over a long time can lead to scarring, which doctors call fibrosis. This can lead to serious liver disease, called cirrhosis.

Keeping iron levels as close to normal as possible can help to prevent or delay liver damage. Your doctor will monitor your liver health closely to make sure any signs of damage are picked up as early as possible.

Living with juvenile haemochromatosis

There is no cure for juvenile haemochromatosis yet. As with adult haemochromatosis, having a genetic condition is bound to have an impact on you and your family. Being diagnosed with a lifelong condition in your teens or twenties will be a profound shock. You are likely to need a great deal of support to start to come to terms with it all. Your doctor will be able to arrange for counselling when you feel ready for it.

Many of the issues we cover in the main section on living with haemochromatosis will be relevant to you so you may find it helpful to read through it. But the impact may feel – or be – greater because you are at a much younger age. There will inevitably be effects on your day to day life. You’ll have your treatment to manage and cope with. And there will also be some changes that you’ll need to make to your lifestyle.

Your doctor is likely to advise you not to drink alcohol, or drink very little because of the risk of harm to your liver. You will also be advised not to take iron supplements or vitamin C, as this can increase iron absorption from your diet. Doctors don’t currently advise avoiding red meat, but it’s sensible not to eat too much of it. It’s also advisable to avoid touching or eating uncooked fish or shellfish as your genetic make up puts you more at risk of a marine bacteria that they can carry.

Some people with long term medical conditions cope by focusing on living as healthy a life as they can, exercising and eating well. Keeping to a healthy weight and eating well may delay or prevent diabetes. As well as reducing your risk of some complications, exercise is known to be good for mental health.

Read our information about eating, drinking and keeping active.

Published: September 2025

Review date: September 2028

Clinical reviewers: Jeremy Shearman, Consultant Hepatologist and Gastroenterologist, South Warwickshire University Foundation Trust. Sister Kim Hicks, Medical Day Unit Haemochromatosis Nurse, Royal Cornwall Hospital, Treliske. Dr Indra van Mourik, Consultant Paediatric Hepatologist (retired).

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