If you’ve celebrated ‘a touch of the Irish’ in your blood on St Patrick’s Day, it may be worth considering whether your heritage has put you at risk of ‘the Celtic curse’ - a condition called Haemochromatosis in which the body pumps too much iron. 

The condition is the most common genetic disorder in Australia - affecting about one in 200 people, with one in seven being carriers. 

Put simply, people with the condition absorb too much iron from their diet. The excess iron is stored in the body and over time this leads to iron overload. An iron overload can cause organ or tissue damage and can potentially result in premature death.

While the condition can be very serious if left untreated, the good news is that treatment is simple, cheap and effective and if detected early it can be managed easily with no interruption to a normal life.

Haemochromatosis tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses. The symptoms can include general fatigue and weakness, weight loss, abdominal pain and joint aches, but are sometimes completely absent or very non-specific.

Dr Dan Johnstone from Haemochromatosis Australia says most people are still unaware of symptoms or consequences of iron overload.

“Fatigue and sore joints are early symptoms of Haemochromatosis but commonly prompt thoughts of iron deficiency rather than iron overload, greater community awareness is needed to enable earlier diagnosis and treatment.”

To diagnose the condition, a simple blood test is required, or the gene can also be detected in a genetic test. The gene associated with haemochromatosis is known as HFE.

Haemochromatosis occurs when the genetic test shows they are homozygous, that is they have two faulty copies of the HFE gene. A person who has only one faulty copy is heterozygous and will not experience any symptoms but is known as a “carrier” because they may pass the condition to a child.

To help bring about more awareness of the condition and to improve treatment options, a world-first patient registry is being developed by a collaboration between Haemochromatosis Australia, the QIMR Berghofer Medical Research Institute and Edith Cowan University and supported by Australian Red Cross Lifeblood. 

The cloud-based Haemochromatosis National Patient Registry (HNPR) will facilitate research into the role of iron in chronic health conditions including liver disease, arthritis, diabetes and heart conditions, as well as supporting opportunities for future research into the impact of iron on the brain.

The HNPR will build on a legacy database of 4,000 patients established by esteemed Hepatologist Professor Lawrie Powell in his 40 years of clinical practice. The database is currently housed at QIMR Berghofer Medical Research Institute. 

Professor Grant Ramm, Deputy Director of QIMR, says the HNPR that will involve routine collection of patient information will fuel and accelerate research and better patient outcomes. 

“This new register will enable larger studies, more basic and clinical research projects, and the recruitment of patients to trial potential new therapeutic approaches or treatments all across Australia – delivering enormous benefits to researchers, patients and their doctors.”

The register is scheduled to be officially opened in the first week of September this year. 

To find out more about the ‘Celtic Curse,’ visit www.ha.org.au or to find out whether you’re at risk, visit your local GP. 

Anyone with known relatives carrying the condition should be tested.