Haemochromatosis of course…
If I was to tell you that haemochromatosis is one of the most common genetic diseases, would you believe me? Never heard of haemochromatosis? Well, would you be surprised to learn that almost one in 200 Australians are either a carrier or actually live with this disease every day? Yet, haemochromatosis is relatively unknown to most Australians, and receives very little if any government funding, even though this disease has the propensity to be fatal if left unchecked.
Here’s a few quick facts:
- Haemochromatosis is a lifelong condition – it’s a hereditary disease triggered by defective genes
- People with haemochromatosis absorb too much iron from food, with excess iron building up in body tissues and the organs (especially the liver, heart, pancreas and spleen)
- Treatment includes regular “venesections”, also known as donating blood (and the best news is that in Australia the Red Cross Blood Service can use your donation)
- Foods containing Vitamin C increase iron absorption
- Some foods help inhibit iron absorption, including those containing dairy, fibre and tannins (great news for me being an avid tea and coffee drinker)
- A normal and healthy life is possible with early diagnosis and treatment
Haemochromatosis presents a variety of symptoms and not everyone experiences the same signs.
Some of the many and varied symptoms of this disease include:
- Fatigue, weakness and lack of energy
- Arthritis and joint pain
- Loss of libido
- Irregular menstrual cycles
- Abdominal pains and swelling
- Heart flutters
- Adrenal gland damage
- Loss of, or reduced, body hair
- Impaired memory
- Skin “bronzing”
I was first diagnosed with haemochromatosis in 2007 after complaining to my GP that I felt constantly exhausted. After a day at work, you would find me horizontal on the couch and getting through the day was like swimming through sludge.
As the symptoms of haemochromatosis are quite diverse and, on face value often indicative of coping with modern day life, it is common for haemochromatosis to go undiagnosed. Thankfully for me, I had a wonderfully astute and informed doctor who recommended I undertake a series of blood tests, revealing an abnormally high transport protein called transferrin saturation (TS) and iron storage protein called serum ferritin (SF).
Taking yourself back to Year 8 biology, you will recall that we all have two copies of all genes – one from our mum and another from our dad. For me, and everyone else with haemochromatosis, the genes (from both parents) which regulate iron absorption are defective and don’t work normally.
I have two copies of the C282Y mutation, which causes my body to think that it’s actually iron deficient and to continually absorb iron from food to compensate for this misnomer.
I have learnt that it is relatively easy to manage haemochromatosis, providing it is picked up early enough and you take the disease seriously. My ferritin levels are presently around 70 ug/L, having been 484 ug/L in 2012.
Whilst there can be a number of many and varied reasons as to why our iron levels go up and down (and I am absolutely not suggesting I have “cured” myself as this is a genetic disease which will require life-long attention), since turning 40 in 2012 I have made a conscious effort to respect my disease and to adopt lifestyle changes to enhance my wellbeing.
These changes include bi-monthly venesections (on my doctor’s advice), increasing my intake of antioxidant rich fruit and vegetables to protect my cells and benefit my liver, limiting sugar and refined carbs to reduce inflammation (and that stodgy, lethargic after effect), indulging my tea habit (black, white green and herbal if you don’t mind) and managing stress through regular exercise and the adoption of mindfulness and yoga practices.
Oh, and what absolute enlightenment and joy the above has brought me… Everything you see here is part of my education process. I’m not a doctor, nutritionist or chef, and nothing you read on these pages should be mistaken for medical advice, however I do know that giving my body the love and health it needs is an incredible feeling. Thank you for joining me on this journey.
Want to Know More?
For more information on haemochromatosis, check out the incredible work being undertaken by Haemochromatosis Australia – a not for profit advocacy group run entirely by volunteers (I’m sure they’d love your support).