World Haemochromatosis Awareness Week, 1-7th June 2020

1 in 5 Irish People Carry the Haemochromatosis Gene

The Irish Haemochromatosis Association Launches Awareness Campaign for World Haemochromatosis Awareness Week 1st – 7th June 2020

Haemochromatosis or ‘iron overload’ is Ireland’s most common genetic condition.  Early diagnosis is vital as lack of treatment can lead to premature death. 

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

This year, for World Haemochromatosis Awareness Week, the Irish Haemochromatosis Association wishes to raise awareness of the condition and its symptoms, to ensure early diagnosis in order to save lives. 

The Irish Haemochromatosis Association was set up over 21 years ago by two Galway sisters who had been diagnosed with the condition.  The association is now led by the current Chair, Margaret Mullett, a Dublin-based former chemistry teacher.  Margaret, sadly lost her husband, Dr George Mullet, to the condition.  He was diagnosed with Haemochromatosis only six weeks before he died  in June 2000, awaiting a heart transplant in the Mater Hospital.  All five adult children were then tested and were diagnosed with Haemochromatosis – by a strange coincidence Margaret also tested positive for Haemochromatosis.  Margaret and all five siblings have received treatment and are living their lives unaffected by the condition. 

Commenting on the awareness drive, Margaret says, “Though life threatening, once diagnosed in time before organ damage has occurred, Haemochromatosis can be successfully treated and patients go on to fully live their lives, without any impact.  Ireland has more cases than anywhere else in the world and we want everyone to understand what Haemochromatosis is and how important early diagnosis is.  We believe that there are 20,000 undiagnosed cases currently in Ireland.  We hope that more people will listen to their bodies, talk to their GPs and undergo the simple tests to diagnose the condition.  This is an especially difficult time for so many people with the Covid-19 global pandemic but we would like to encourage people to contact their GPs if they experience symptoms.”

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

Symptoms

Iron builds up slowly so symptoms may not appear until people reach their thirties or forties. These symptoms include:

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

The early biochemical signs of haemochromatosis tend to be:

• Increased serum ferritin and transferrin saturation; and
• Abnormal liver function tests (LFTs).

Most of these symptoms can be found in other disorders but when arthritis affects the first two finger joints, it is highly suggestive of haemochromatosis.  Most individuals with Haemochromatosis will develop at least one or two of the above symptoms, although possibly in a mild form.  When undetected and untreated, iron overload can result in severe organ damage and premature death.

Testing

Haemochromatosis can be diagnosed by a blood-based genetic test combined with a 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 ug / Litre.  When iron levels are reduced, patients are said to be in maintenance and get blood taken approximately every three months.