Haemochromatosis

Overview

Haemochromatosis (pronounced hee-muh-kroh-muh-toh-sis) is a condition where your body takes in too much iron from the food you eat. The extra iron is stored in your organs, such as your liver, heart, and pancreas. Over time, this can cause damage. It is usually inherited, meaning it is passed down in families.

In the UK, around 1 in 150 to 1 in 200 people have the genetic change that can cause haemochromatosis. However, not everyone with the gene change develops health problems. It is one of the most common inherited conditions in people of Northern European or Celtic background.

It can affect anyone, but it is most common in white people, especially those with ancestors from Ireland, Scotland, Wales, or other parts of Northern Europe. Men are more likely to have symptoms and often develop them earlier than women, because women lose iron through menstruation and pregnancy.

Symptoms

Common symptoms

• Feeling very tired or weak most of the time
• Joint pain, especially in the knuckles of the first two fingers (index and middle fingers)
• Pain in the belly (abdomen)
• Loss of interest in sex
• Bronze or grey skin colour, sometimes described as a tanned look
• Irregular or fluttering heartbeat, or feeling breathless

Causes

Main causes

• Most cases of haemochromatosis are caused by a change in a gene called HFE. This gene tells the body how much iron to absorb from food.
• You need to inherit two faulty copies of the HFE gene (one from each parent) to develop the condition. If you inherit only one, you are a carrier and usually do not get symptoms.
• In rare cases, other genes or health problems (like repeated blood transfusions or certain blood conditions) can lead to iron overload.

Risk factors

• Having a parent, sibling, or child with haemochromatosis
• Being of Northern European or Celtic ancestry
• Being male (men are more likely to get symptoms)
• Drinking a lot of alcohol, which makes liver damage worse

When to see a doctor

See a doctor urgently if:

• If you have symptoms such as chest pain, difficulty breathing, fainting, or severe belly pain, call your local emergency number immediately.

Book a routine appointment if:

• Make an appointment with a GP (general practitioner) if you have ongoing tiredness, joint pain, belly discomfort, or notice a change in your skin colour.
• Also ask for a blood test if a close blood relative has been diagnosed with haemochromatosis.
• If you are worried about any symptom, see your doctor — it is always okay to ask.

Diagnosis

Your doctor will ask about your symptoms, your medical history, and whether anyone in your family has haemochromatosis. They will arrange a blood test to check how much iron is in your body. If the result is high, you may need a genetic blood test to confirm the cause.

Tests that may be done

• Blood tests – that measure two things: ferritin (how much iron is stored in your body) and transferrin saturation (how much iron is in your blood).
• Genetic test – a blood test that looks for the HFE gene changes that cause hereditary haemochromatosis.
• Liver tests – if there is a chance your liver has been affected, your doctor might arrange blood tests, an ultrasound scan, or sometimes a biopsy (taking a small sample of liver tissue).

What to expect at your appointment

Testing is straightforward. You will have a blood sample taken from your arm. You may need to fast (not eat) beforehand. Results can take a few weeks. If you are diagnosed, you will usually be referred to a specialist, such as a liver or blood doctor.

Treatment

The main treatment is called venesection (or phlebotomy) – this means taking blood from a vein, like when you donate blood. It removes iron from the body. At first, you might need this every week or two until your iron levels are normal. After that, you'll need it less often to keep levels in the healthy range.

Self-care at home

• Go to all your treatment appointments, even if you feel well.
• If you drink alcohol, try to cut down or stop altogether. Alcohol speeds up liver damage in haemochromatosis.
• Do not take iron tablets or multivitamins that contain iron.
• Ask your doctor before taking vitamin C tablets, because vitamin C increases iron absorption.

Medical treatments

Some people cannot have venesection. In that case, a specialist may prescribe a medicine called an iron chelator. This medicine attaches to extra iron in the body and helps remove it either in urine or stool. It can be given as a tablet or an injection. Your specialist will talk you through your options and make a plan that suits you.

When is surgery considered?

Surgery is rarely needed. In very advanced cases, if iron overload has caused severe liver damage or liver cancer, a liver transplant might be considered. This is a major operation and only happens after careful discussion with a specialist team.

Living with this condition

Once your iron levels are under control, most people lead a completely normal life. You may need fewer treatments over time, sometimes just a few times a year. It helps to keep a good routine and stay in contact with your care team.

Lifestyle tips

• Keep your regular treatment schedule – it is the best way to protect your organs.
• Try to stay active. Walking, swimming, or other low-impact exercise are great for your joints and heart.
• Limit alcohol. If you have any liver concerns, your doctor may recommend stopping completely.
• Drink plenty of fluids, especially on days you have venesection.

Diet and exercise

There is no need to follow a strict diet, but it makes sense to avoid iron supplements and iron-fortified cereals or drinks. Eat a balanced diet with fruits, vegetables, lean proteins, and whole grains. Regular exercise helps keep your joints and heart healthy.

Mental health and emotional wellbeing

Finding out you have a long-term condition can be worrying. You might feel anxious or low, especially at first. Remember that haemochromatosis is treatable, and asking for help is a sign of strength. Your healthcare team can support you, and you can ask to speak to a counsellor.

Prevention

You cannot prevent the gene change that causes haemochromatosis. But you can prevent the damage it causes by getting tested early and starting treatment before iron levels become harmful. If you have family members with the condition, talk to your doctor about screening.

Vaccines

There is no vaccine for haemochromatosis. However, keeping your routine vaccinations up to date (like flu and COVID-19) is important, especially if you have liver or heart problems.

Screening programmes

Screening means checking for a condition before there are symptoms. For haemochromatosis, first-degree relatives (parents, brothers, sisters, and children) of someone with the condition are often offered genetic testing. This allows early treatment and prevention of complications.

Complications

If left untreated

• Liver damage, including scarring (cirrhosis) and increased risk of liver cancer
• Diabetes, because iron builds up in the pancreas which makes insulin
• Heart problems, such as irregular heartbeat or heart failure
• Joint pain and permanent joint damage
• In men, erectile dysfunction or shrinking of the testicles
• In women, early menopause or loss of periods

Long-term outlook

The outlook is very good with early diagnosis. Treatment brings iron levels down to a safe range, which usually stops further damage and often improves symptoms like tiredness and joint pain. Even if there is already some liver or joint damage, treatment can prevent it from getting worse. Many people live a full, healthy life.

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