World Haemochromatosis Awareness Week 1st – 7th June 2022

There are at least 20,000 undiagnosed cases of Haemochromatosis also known as “iron overload” in Ireland,  the Irish Haemochromatosis Association (IHA) has said.

Haemochromatosis is a genetic condition which causes the body to absorb too much iron. Over time this leads to a build-up of iron in the blood, bones, and organs like the liver and the heart. People with Haemochromatosis have a faulty gene which causes the normal system of iron absorption in the body to break down. Early diagnosis is vital and if left untreated, can lead to organ damage or even premature death.

While heart damage caused by haemochromatosis is thankfully not seen very often, when too much iron deposits in the liver it can cause cirrhosis and, in the heart, it can cause cardiomyopathy or problems with the heart muscle. It can also lead to heart failure.

The proportion of people who develop heart disease as a result of Haemochromatosis is low at less than 5 per cent, and the good news is that treating Haemochromatosis can reverse the heart damage.

Haemochromatosis is more common in Ireland than anywhere else in the world, as one in five people carry one copy of the gene and one in every 83 Irish people carry two copies of the gene, predisposing them to develop iron overload.

This year, to mark World Haemochromatosis Awareness Week, 1^st – 7^th June 2022, the IHA aims to raise awareness of the condition and is urging people to ‘Get Checked for Haemochromatosis,’ to highlight the symptoms in order to save lives – symptoms that range from chronic tiredness and joint pain to abdominal pain and sexual dysfunction.

Commenting Dr Maurice Manning, Chair of the Irish Haemochromatosis Association and Haemochromatosis sufferer said, “With Ireland having more cases than anywhere else in the world, we want everyone to understand what Haemochromatosis is and how important early diagnosis is.  Now that we are coming out the other side of the pandemic, it is becoming much easier to stop ignoring symptoms and get medical advice if you have any worries or concerns. It’s as easy as talking to your GP and arranging a blood test.  Although it can be life-threatening, once diagnosed before organ damage has occurred, Haemochromatosis can be successfully treated and patients go on to live their lives to the full, without any impact.”

Professor Suzanne Norris, Consultant in Hepatology and Gastroenterology at St James’s Hospital in Dublin said, “Ireland has the highest rates of Haemochromatosis in the world. Ill-health from Haemochromatosis and the development of serious complications such as cirrhosis can be prevented by simple treatment and life expectancy in treated non-cirrhotic patients is normal. Early diagnosis is therefore critical.”

Professor John Ryan, Consultant in Hepatology and Gastroenterology at Beaumont Hospital in Dublin added, “Haemochromatosis is an inherited condition, where the body cannot switch off iron absorption and iron build up leads to life-threatening organ damage. If picked up early it is entirely treatable, and individuals may also donate blood through the Irish Blood Transfusion clinics, which is then put to good use.”

What is Haemochromatosis

Haemochromatosis (where the body overloads too much iron) is a genetic disorder where large amounts of iron are absorbed from the diet into vital organs such as the liver, heart and lungs and body tissue, in other words ‘iron overload’. It can be fatal if not detected early and is the most common genetic disorder in Ireland, where 1 in 5 people are carriers i.e., 20% of the population and 1 in 83 people are predisposed to develop it. Ireland has the highest rates of this genetic disorder in the world.

What are the symptoms:

• Unexplained weakness or fatigue
• Abdominal pain
• Diminished sex drive or impotence
• Arthritis particularly if it occurs in the first and second knuckles and/or the ankles
• Type 2 Diabetes
• Liver disorders
• Discolouration or bronzing of skin
• Mood swings and irritability
• Irregular heart rhythm

Testing

Haemochromatosis can be diagnosed by a blood-based genetic test combined with an iron panel test to identify high levels of iron in the blood. This can be organised through your GP.

Treatment

The main treatment for Haemochromatosis is venesection. This is where a unit of blood is taken from the patient every week or two until their iron levels are brought down to between 50-100 µg/L.  When iron levels are reduced, patients are said to be in maintenance and get blood taken approximately every three months.