In Australia, it’s estimated that roughly one in 200 Australians of Caucasian heritage suffer from haemochromatosis, making it the country’s most common genetic disorder. Yet, it’s still an unfamiliar condition for a large number of the population.
With World Haemochromatosis Week at the beginning of June, early detection and simple treatment are the key messages that Haemochromatosis Australia are passionate about promoting to both medical practitioners and the general public.
But what is Haemochromatosis?
Haemochromatosis is a genetic condition, which leads to the absorption and storage of too much iron in the body. While a certain amount of iron is important for our health, excess iron, if left untreated, can damage our joints, major organs, and in the worst-case scenario, lead to death.
It is thought haemochromatosis can be traced back centuries, to when Northern Europeans were suffering from a lack of iron in their diet and their bodies compensated by absorbing additional iron.
Like diabetes, there is more than one type of haemochromatosis. The most common type causes people to absorb extra amounts of iron from the food they eat every day, without managing to dispose of the extra iron. Eventually, the toxic levels of iron will lead to organ damage, which can be fatal.
It’s important to recognise the symptoms of haemochromatosis as early as possible, so sufferers can seek treatment and prevent permanent damage.
Dianne Prince, President of Haemochromatosis Australia says that some difficulties arise when diagnosing haemochromatosis, because the symptoms are common with a lot of other conditions.
“People will find that they suffer from great fatigue, lethargy, general weakness, aching joints and often depression because they’re very frustrated with not having a diagnosis. Like people with chronic fatigue, they don’t really know what’s going on.
“I spoke to a 55-year old man recently who had a night of extreme abdominal pain and fortunately, the doctor that treated him looked at his skin colour and decided to test him for haemochromatosis, as this [hyperpigmentation] is another, less common symptom. Often, it requires a doctor that’s alert to the symptoms to pick it up or progress the tests,” explains Prince.
Common symptoms include:
- Fatigue and weakness
- Aching joints
- Abdominal pain
- Memory loss
- Loss of sex drive
As haemochromatosis progresses, the excess iron can lead to osteoarthritis, Type 2 diabetes, heart arrhythmias, fibrosis of the liver, cirrhosis or liver cancer.
Simple tests will confirm whether a patient is suffering from haemochromatosis.
The HFE gene mutation known as C282Y is the most common cause of haemochromatosis, it alters a protein involved in regulating iron absorption. The mutation can be detected using a blood test which is available under Medicare for at risk groups. These include people who have a first-degree relative diagnosed with haemochromatosis and people with high iron levels on repeated testing.
This test, in conjunction with an iron studies test will give a confirmed diagnosis.
“If a younger person decides to get tested because they already have a first-degree relative with haemochromatosis or have the gene in their family, they can have the gene test and then monitor their iron through iron studies every six or twelve months,” says Prince.
While men are more commonly diagnosed with haemochromatosis, women can also suffer from the condition.
“There was some thought that women didn’t suffer from haemochromatosis because they lost blood through menstruation, and that was drawing on their iron stores to replenish what they were losing. It wasn’t seen to be something that women presented with until after menopause, but that has been proven untrue in a number of instances,” explains Prince.
The standard treatment for haemochromatosis is venesection, which basically means having blood removed from the body.
The regularity of treatment will depend on the levels of serum ferritin at the time of diagnosis. Some people will require this treatment every ten to twelve weeks, while sufferers who record high levels of serum ferritin at the time of diagnosis may need to get weekly or twice weekly treatments until their serum ferritin levels drop to optimum levels of around 50.
If the removed blood meets standard Red Cross criteria, it can be used for donation purposes or testing.
World Haemochromatosis Week runs from 4 – 10 June 2018, with the aim of spreading international awareness about the condition. To find out more, visit Haemochromatosis Australia’s website.