Haemochromatosis

Haemochromatosis is a monogenic genetic disorder that causes the body to absorb and store too much iron from the diet. Over time, this excess iron can build up in vital organs such as the liver, heart, and pancreas, potentially leading to serious health problems if not treated. However, once diagnosed, haemochromatosis is easily manageable, and individuals can live long, healthy lives with minimal disruption.

Haemochromatosis is caused by changes (mutations) in a single gene — most commonly the HFE gene. This is why it is classified as a monogenic condition. The most frequent mutation is called C282Y, and people who inherit two copies of this mutation (one from each parent) are at the highest risk of developing iron overload.

How Common Is It in the UK?

Haemochromatosis is one of the most common genetic conditions in the UK, especially among people of northern European descent.

• Around 1 in 150 people in the UK are thought to have two copies of the faulty gene and are at risk of iron overload.
• As many as 1 in 10 people carry one copy of the mutation but typically do not develop symptoms.

Despite its frequency, many people remain undiagnosed, which can lead to preventable complications.

What Happens If It’s Not Diagnosed?

If left untreated, the iron buildup can cause:

• Liver damage, including cirrhosis and liver cancer
• Heart disease and arrhythmias
• Diabetes (due to damage to the pancreas)
• Joint pain and arthritis
• Fatigue and hormonal issues

Because symptoms can be vague and develop slowly, haemochromatosis is often called a “silent” condition. Early diagnosis is key to avoiding these complications.

How Is It Treated?

The treatment is simple, effective, and doesn’t require medication:

• Venesection (regular removal of blood) is the main treatment. It works similarly to donating blood and helps reduce iron levels in the body.
• Once iron levels are stable, patients move to a maintenance phase with less frequent treatments.
• Patients are also advised to avoid iron supplements, limit alcohol, and stay up to date with monitoring.

With early detection and proper management, most people with haemochromatosis have a normal life expectancy and excellent quality of life.

 Why Early Testing Matters

Haemochromatosis is a textbook example of a highly manageable genetic disorder,  but only if it’s detected in time. Genetic testing can provide clarity, allow early intervention, and even help relatives make informed decisions about their own health.

For more information on Haemochromatosis, please visit www.haemochromatosis.org.uk/

Requirements: Blood Sample or Transfer of Whole Genome Data

Sequencing Time: 30 days

Analysis Time: 24 hours