Haemochromatosis – common yet unheard of by many

There are some illnesses which not a lot of people have heard of, yet they affect many. Frequently, such conditions are left undiagnosed for years, sometimes with life changing results. Haemochromatosis is such a condition. Awareness of the UK’s most common genetic condition is extremely limited.

However, thanks to a recent episode of Call the Midwife which featured the condition, haemochromatosis is gaining increasing media attention.

What is haemochromatosis?

Put simply, people with haemochromatosis carry a gene mutation that causes them to absorb twice as much iron from what they eat as those who don’t have the condition.

If the build-up of iron - or iron overload - is left untreated, it can damage parts of the body such as the liver, joints, pancreas and heart – even resulting in cirrhosis and eventually liver cancer.

Causes of haemochromatosis

Haemochromatosis is caused by a faulty gene that affects how the body absorbs iron from food and drink.

A person is at risk of developing the condition if both parents have the faulty gene and 1 copy from each parent is inherited. Haemochromatosis is not passed on if a person only inherits 1 copy of the faulty gene - however there is a possibility the faulty gene on to any children that person has. That said, a person inheriting 2 copies does not always result in haemochromatosis, only a small number of those who do will ever develop the condition. It is not known why.

Who is affected?

Haemochromatosis most often affects people of white northern European background and is particularly common in countries where lots of people have a Celtic background, such as Ireland, Scotland and Wales – so much so that it is often referred to as the "Celtic Curse". In some areas of the UK, as many as 1 in 8 people carry the gene defect that causes the condition.

Despite haemochromatosis being the UK’s most common genetic condition, levels of diagnosis remain disappointingly low, with just 14,000 people undergoing treatment.

Symptoms of haemochromatosis

Symptoms of haemochromatosis usually develop between the ages of 30 and 60. Common symptoms of haemochromatosis include:

• Weight loss
• Joint pain (especially in the fingers)
• Weakness
• Fatigue
• Irregular or absent periods
• Erectile dysfunction
• Jaundice

If left untreated, however, the symptoms that develop are much more serious:

• A build-up of iron in the pancreas can cause diabetes
• Excess iron in the heart can cause cardiomyopathy and eventual heart failure
• The liver is very sensitive to iron, so many sufferers will have some damage or scarring (cirrhosis), and 6% of all liver cancers in men can be attributed to haemochromatosis

Treatments for haemochromatosis

Thankfully, despite there currently being no cure - if haemochromatosis is diagnosed early, treatment is simple and highly effective, enabling those who live with the condition to live full, active lives.

There are 2 main treatments:

• Phlebotomy – a procedure to remove some of your blood; this may need to be done every week at first and can continue to be repeated 2 to 4 times a year for the rest of your life
• Chelation therapy – a course of medicine is taken to reduce iron levels in the body; however, this is only used if it's not easy to regularly take blood

Few lifestyle changes are required for those who live with the condition – but the NHS says affected patients are advised to have a balanced diet, avoid cereals that are “fortified” with iron, stop taking any iron and vitamin C supplements, and be cautious not to drink too much alcohol.

Support for haemochromatosis

Relatively simple blood tests, genetic tests, and recognition by healthcare professionals of patterns of symptoms, should lead to diagnosis sooner than it often does.

Haemochromatosis UK is a charity that works to raise awareness of the condition with families, healthcare professionals and policy makers, in an effort to address the problem of late diagnosis of haemochromatosis, as well as spreading awareness of the condition through fundraising events and online campaigns.

Gill Edwards, Partner within our Clinical Negligence team, comments:

“Raising awareness of this condition is so important. The treatment for haemochromatosis is straightforward and relatively inexpensive. This makes it even harder to bear for patients and families who experience the worst outcome when the diagnosis has been missed”

Gill is a Partner within the Clinical Negligence team here at Potter Rees Dolan. If you would like to speak with Gill regarding any aspect of this article, or if you have questions about making a clinical negligence claim, please call 0800 027 2557. Alternatively, you can contact Gill directly here.