Hereditary Haemochromatosis: The Common Genetic Cause of Iron Overload

Around 1 in 200 people of Northern European ancestry carry the main genetic change linked to hereditary haemochromatosis. Many people have never heard of the condition, yet it's one of the most common inherited disorders in the UK.

The good news is that it can often be found with a simple blood test, and when it's treated early, serious health problems can usually be prevented.

What is hereditary haemochromatosis?

Hereditary haemochromatosis is an inherited condition that can cause the body to absorb more iron from food than it needs.

Because the body has no effective way to remove excess iron, it gradually builds up over many years. This extra iron is stored in organs such as the liver, pancreas, heart and joints, where it can eventually cause damage.

How does it happen?

Iron is essential for making healthy red blood cells and carrying oxygen around the body. Normally, a hormone called hepcidin helps regulate how much iron is absorbed from food.

In hereditary haemochromatosis, a change in the gene that controls this process (the HFE gene) disrupts the system. The most common of these gene changes is known as C282Y.

People who inherit two copies of C282Y have the greatest genetic risk of developing iron overload. NHS genomic guidance states that around 90% of people with clinical HFE-related haemochromatosis have two copies of this variant.

However, having the genotype does not guarantee that someone will develop significant iron overload or organ damage.

What problems can excess iron cause?

Iron overload can gradually damage several parts of the body.

Potential complications include:

• Liver damage - including fibrosis and cirrhosis
• Diabetes - if excess iron damages the pancreas
• Heart problems - including abnormal heart rhythms and heart failure
• Joint problems - particularly affecting the fingers, hips and knees
• Hormonal problems - including reduced libido and reproductive changes
• Persistent fatigue and weakness

The liver is particularly important because prolonged iron accumulation can eventually result in cirrhosis and increase the risk of liver cancer.

A large UK Biobank study of people with HFE genetic variants found that people with two C282Y copies had higher rates of several conditions associated with haemochromatosis, particularly among men.

Why is it often missed?

Early symptoms tend to be non-specific.

These can include:

• Persistent tiredness
• Weakness
• Joint pain
• Reduced sex drive
• General aches and pains

All of these can have many other explanations.

Women are often diagnosed later because regular menstrual bleeding removes some iron from the body. As a result, many people are not diagnosed until their forties, fifties or later.

How is it diagnosed?

A blood test can identify signs of iron overload. Doctors may check three things in the blood: a protein that shows how much iron is stored in the body (ferritin), the amount of iron circulating in the blood (serum iron), and how much of the blood's iron-carrying capacity is being used (transferrin saturation).

A transferrin saturation above 45% may suggest the body is storing too much iron. Further testing may include genetic testing for changes in the HFE gene.

How is it treated?

Treatment is straightforward and highly effective. The main treatment involves removing blood on a regular basis, similar to giving blood (a procedure called phlebotomy, or venesection).

By removing iron-containing red blood cells, the body is forced to use up excess stored iron. At first, treatment may be needed every week or two.

Once iron levels return to normal, occasional maintenance treatments help keep them under control. People diagnosed and treated before significant organ damage occurs can usually expect a normal life expectancy.

Check your iron stores with Bluecrest

Hereditary haemochromatosis is common, often silent, and potentially serious. However, it is also one of the most preventable causes of long-term illness.

A Bluecrest Ferritin Blood Test measures the ferritin stored in your body and can identify an unexpectedly high result that may warrant closer attention.

Ferritin alone cannot diagnose haemochromatosis, but if your level is raised, your personalised Results Report will highlight it and provide guidance on appropriate next steps, which may include speaking with your GP about further investigation.

Book a health assessment with Bluecrest today with a Ferritin Blood Test and get a clearer picture of your body's iron stores.

This article is for general health information only and should not be considered medical advice. If you have concerns about your iron levels, ferritin result, or family history of haemochromatosis, please speak with a healthcare professional.