Haemochromatosis in France: symptoms, diagnosis and one woman's experience

A British woman who moved to France nearly 30 years ago has spoken of her frustration at the time taken to diagnose her medical condition, which was initially attributed to “excessive drinking”.

Haemochromatosis is a genetic disorder that causes the body to absorb and store too much iron over several years, also known as ‘iron overload disorder’.

The genetic link was not discovered until 1996, but it is a recessive condition, meaning that it only develops if you inherit the faulty HFE gene from both of your parents, so you might have no idea it is in your family.

“It is a terrible sickness as it affects every organ and joint,” said Mo Tyzack from Avranches.

“My symptoms were misleading. I had severe fatigue and arthritic pains in various joints, but X-rays, ultrasounds and MRIs showed no cause.

“I developed unexplained diabetes and even three ‘heart attacks’ where I was taken for bypass surgery – only to wake up in the ward to be told they could find nothing.

“On my third attack, my consultant insisted that my attacks were from excessive drinking, because with haemochromatosis, blood tests show false results for alcohol and sugar levels. It’s just as well I was never breathalysed by the police!

“By 2008, my French doctor was fed up with my visits and shouted, ‘Madame, you are neurotic!’ and I shouted back, ‘No, I am in pain!’ and stormed out of the office.

“Later that day he called me back with a prescription for a DNA test in Lyon. One week later, my results were positive for the HFE C282Y mutation with two defective copies, confirming haemochromatosis.

“My doctor and I were both overjoyed because finally we understood all the symptoms I had been suffering for nine years.”

Symptoms usually start between the ages of 30 and 60 and are often mistakenly attributed to other causes.

Studies show that the most common early symptoms are tiredness and aching joints, mood swings, a general feeling of being unwell, brain fog, depression and anxiety.

A study by the University of Edinburgh found that people with Celtic ancestry – Ireland and northern Europe – have the highest risk of developing haemochromatosis.

Across France, one person in 200 has the condition. This compares to one in 156 in the UK, and one in 300 in the US.

If left untreated, iron build-up can lead to serious liver problems, diabetes, crippling arthritis, mood disorders and even heart failure.

Discussing her family history with a specialist at Rennes CHU, Mo realised that many of her relatives through generations had died from undiagnosed haemochromatosis.

Diagnosis and treatment

A simple blood test will show if you have haemochromatosis, and a DNA test can check for the mutated gene.

Once diagnosed, doctors can confirm the level of iron build-up and check that no organs have been damaged. 

“When I moved to France in 1997 and registered with a doctor, I remember needing an initial blood test,” said Mo.

“My results showed a ferritin (iron) level of 444 when it should be around 250. Although the number stuck in my brain, I never questioned it and it was never mentioned.

“But of course, over the following years, that iron just accumulated. By 2008, my ferritin levels were at nearly 2000!

“Thankfully, you can reduce your iron levels by venesection (blood donation), initially once a week and then typically three times a year.

“I admit that I don’t find the pain levels or fatigue have decreased, but each person is different, and I learned that all my joint pains were from excess iron wearing away the cartilage and inflaming the bone.

“I have had both knees replaced and I’m on painkillers for my spine and other joints, but for me the biggest relief is getting the diagnosis and understanding what was wrong all these years.”