“I just feel absolutely buggered”. In 2008, these words were uttered by Keith*, a 46 year old Central Queensland grazier who would eventually be diagnosed with haemochromatosis.

It was also the very beginning of a special interest in this genetic condition that rural GP Dr Katie Goot would continue to develop over the years, thanks to this patient of hers.

Like high profile Wagyu producer David Blackmore, comedian and The Project panel member Dave Hughes and former Miss Universe Jennifer Hawkins, Keith is among the 100,000 Australians who have genetic mutations leading to excess iron being absorbed from food and then stored in the body.

Even though early diagnosis and treatment avoids unnecessary damage from having too much iron, there is a lack of awareness of this common condition. About half of all Australian people with haemochromatosis are undiagnosed.

Dr Katie Goot lives on a beef cattle property with her husband, a fifth generation grazier. Now a volunteer with Haemochromatosis Australia and a rural GP in Biloela, Queensland, the former molecular biology graduate firmly believes prevention is better than cure, which is why managing patients with haemochromatosis is of such interest.

She started working as a trainee rural doctor in 2008, and quickly learned that a busy farmer’s health complaints should send alarm bells ringing.

“If a farmer takes the time to drive in to town to the medical centre, to sit in the waiting room and wait, and not to leave even though I’m running late, there is usually a very good reason they have come to see me – unfortunately often only once the business starts sufferin”.

“The day I met Keith, Judy* did almost all the talking. She told me that her husband had been exhausted, tired, achy and ‘getting around like an old man’ for a year and a half.

“For the first year both of them thought that maybe it was the decades of hard work catching up to him, but the mustering, yard work, early mornings, long days and heavy lifting were becoming impossible.”

The symptom of tiredness has many possible medical causes apart from too much or too little iron. Sleep problems, depression, diabetes, anaemia, diseases of the liver, thyroid, kidneys, chronic infections, inflammatory problems and cancer are some of the causes.

“I ordered some basic blood tests and the results were normal. Normal glucose, normal blood cells, normal liver, kidney and thyroid tests. No markers of infection or inflammation. No clues that there might be a major underlying problem like cancer. I explained this. Keith and Judy were disappointed. There had to be something wrong.”

So what next?

“I checked for less common causes of tiredness, such as Q fever, Queensland tick typhus, leptospirosis, hepatitis B and immune diseases such as lupus and rheumatoid arthritis. I asked for urine tests to check for bladder infection and stool tests to check for bleeding. All normal.”

Considering possible iron deficiency, even though it affects women much more often than men, Dr Goot also requested iron studies. “I’m glad I did because this was the Eureka moment.”

Keith’s iron studies showed not iron deficiency but iron overload with high ferritin levels at almost 900 (usually under 300) and a high transferrin saturation at 88% (usually under 50%). A genetic test showed Keith had two copies of the common C282Y mutation (homozygous) which is known to be the culprit mutation in most cases of haemochromatosis.

Iron overload can cause fatigue, joint aches and organ damage including bronze diabetes (brown skin and diabetes), liver failure and liver cancer as iron accumulates to dangerous levels over time. If diagnosed early, removal of iron by frequent blood donations is the low-tech, safe and proven way of treating the condition and preventing organ damage.

“Luckily Keith’s diagnosis came before his iron overload level was critically high (usually over 1000). He donated blood regularly to reduce the iron stored in his body, and he was happy to know that he could continue to eat red meat, so long as he balanced this with occasional extra blood donations.”

Like the horned trait in cattle, haemochromatosis is recessive, meaning the sire and the dam both need to carry the gene for the calf to be affected. Dr Goot arranged for the ‘sires, dams and calves’ of Keith’s extended family to have haemochromatosis gene testing. Three other members also tested positive as C282Y homozygous and many carriers were identified as well.

“In the 5 years since, I have diagnosed many other patients with haemochromatosis, both male and female, and aged from their 20’s up to their 60s. Quite often they were relieved that there was in fact something wrong and they weren’t complaining for no reason. Now I always check iron studies for men and women who say they have been unusually tired for a long time.”

Dr Goot has since extensively studied haemochromatosis and has worked with Haemochromatosis Australia to produce education materials for the general public and health professionals as well.

She is passionate about raising the profile of this condition to prevent more people suffering harm from iron overload.

“Haemochromatosis might never roll off the tongue, but I want it to be a familiar word”.

“If you are very tired, achy and feeling old before your time, please ask to have your iron checked with iron studies which include ferritin and transferrin saturation. These tests aren’t automatically done when routine blood tests are ordered.”

“Please also know the health problems that run in your family.  Talk to your relatives. And if anywhere in your family tree is a branch featuring too much iron, bronze diabetes, liver failure or liver cancer, please don’t ignore the chance to be tested for haemochromatosis with iron studies and the gene test.”

Haemochromatosis Australia’s second annual Haemochromatosis Awareness Week 12-18 August 2013 aims to minimise unnecessary harm from having too much iron.
Please see www.ha.org.au for more details

[*names changed for purpose of story]

Dr Katie Goot
MBBS BSc FACRRM
GP in Biloela, Queensland
Volunteer GP Liaison Officer for Haemochromatosis Australia
www.ha.org.au

• Click here to view Victorian beef producer, David Blackmore's earlier awareness testimonial about living with Haemochromatosis, "Irony of blood disorder not lost on Wagyu producer," published on Beef Central.