'Iron overload' is one of our most common genetic disorders. So why don't more of us know about it, asks Sylvia Thompson
John Brangan, who is 46, first realised something was amiss when his ankle gave way as he got up from his desk to walk across the office. A few weeks later he woke up with swollen ankles, hips and wrists and general flu-like symptoms. Within a month he couldn't get out of bed at his home in Swords, in north Co Dublin, so painful were his joints, stomach and back.
Over the next six months Brangan's worsening condition confounded his GP and rheumatologist. Almost two years later a new consultant tested him for haemochromatosis; it confirmed that he had the disorder, which is commonly known as iron overload. Doctors returned his iron to a safe level by removing more than a pint of blood a week for five months.
For Rosaleen, a 45-year-old, the symptoms of haemochromatosis went undetected for much longer. "I was sick for years. In my 20s I had bad headaches, bouts of depression and an itch under my skin. I married in my late 20s, and it was only after the birth of my third child that I became completely exhausted. During each pregnancy I took an iron supplement, and after my third baby was born I took iron again, because I was so tired. Now I realise that I was overdosing myself with iron.
"I would crawl around the floor with stomach cramps and fall asleep while minding my three children. When my husband came home from work I went straight to bed."
More than four years later, after a liver biopsy, she was finally diagnosed with haemochromatosis. She also had a weekly venesection - a medical term for the removal of blood - until her iron returned to safe levels. She will continue to have them three or four times a year for the rest of her life. "I'm like a Duracell battery. I begin to slow down when I need another venesection," she says.
Most people have never heard of haemochromatosis. The Irish Haemochromatosis Association claims that when it was established, five years ago, many GPs and even some consultants seemed unaware of the condition. Its underdiagnosis seems to be due to the fact that, in the disorder's later stages, the organ damage it causes gives patients many of the symptoms of better-known conditions such as diabetes, arthritis and heart disease.
Doctors have become better informed about haemochromatosis over the past few years, although it still often goes untested for when patients complain of typical symptoms such as joint pain, vague abdominal pain, chronic fatigue and loss of sex drive.
Ironically, haemochromatosis is often dubbed the Celtic disease or Celtic mutation (the mutated gene present in most patients was identified in 1996), as the incidence is so much higher in Ireland and areas to which the Irish have emigrated - Britain, Australia and the east coast of the US - than anywhere else.
One in 83 Irish people is thought to be genetically predisposed to developing iron overload, compared with one in 300-400 on the Continent. One in five Irish people is believed to carry the defective gene, making haemochromatosis one of our most common genetic disorders.
"Generally speaking, symptoms of haemochromatosis begin to appear in men in their 40s and women in their 50s - women are protected from earlier symptom onset due to blood loss during menstruation and childbirth," says Dr John Crowe, a consultant gastroenterologist and hepatologist at the centre for liver disease at Mater Misericordiae University Hospital, in Dublin.
"However, expression of the disorder varies a lot, and you may find an elderly person with the mutation who has no symptoms and a young person with symptoms and high iron levels. Why this occurs is not yet understood. There may be other genes involved."
Ivan Morris, who is 58, discovered he had haemochromatosis only when his younger brother discovered he had the condition after he treated himself to a full health and stress scan on his 50th birthday. "I didn't have the slightest indication that something sinister was hidden away in my genes," says Morris, who lives in Limerick. "Apart from feeling that my golf swing was becoming noticeably more rusty, and my ankles hurt, I had no suspicion that my body was carrying a lot of excess iron around."
Tests confirmed that Morris and his 23-year-old son, David, also carried the defective gene. Having completed a series of venesections, Morris will continue to have his iron level checked every three months.
"The iceberg that was waiting to clobber me has been avoided in time, and as long as I continue to keep matters under control I can look forward to a normal lifestyle and \ expectancy," he wrote in the Irish Haemochromatosis Association newsletter. "I was also told that regular venesections are a great protection against a possible stroke because the blood is kept 'flowing nicely and never allowed to thicken'." (The association is campaigning for the blood removed from patients to be donated rather than thrown out, as it is used by blood banks in Australia and Canada.)
Morris's case highlights the importance of testing family once a brother or sister has been diagnosed with haemochromatosis. Doctors currently advise that, if a parent has haemochromatosis, their children should not be tested before adulthood. "I believe that because the disease is so common in Ireland GPs should be testing everyone over 20 for it," says Morris.
Dr John Crowe says referrals for genetic haemochromatosis tests are doubling each year because of increasing awareness of the condition. He does not regard the way forward to be general screening, however, in spite of the likelihood that it would identify many more people who are predisposed to haemochromatosis yet remain asymptomatic.
"There are a number of big screening studies in the United States and Canada, where the incidence is about one in 300, but in spite of Ireland having the highest haemochromatosis incidence in the world, population screening is not justifiable at the moment," he says.
"What is required is targeted screening, which would involve improved education of doctors about haemochromatosis, so that they will test patient by patient where symptoms appear and so that they will know how to screen other family members correctly."
Dr Crowe does not tell haemochromatosis patients to change their diets except to recommend that they avoid iron-fortified breakfast cereal.
"Of course, if a patient has haemochromatosis [and is unaware of it\], and takes iron supplements because they are feeling drained and tired, they will compound the problem. But, generally speaking, treatment with venesection will result in taking off much higher levels of iron than any dietary changes can."
You can contact the Irish Haemochromatosis Association on 01-8735911. Its website is www.haemochromatosis-ir.com
Recognising haemochromatosis
What is it? Haemochromatosis is a disorder in which the body absorbs too much iron.
What are the symptoms? Early symptoms include joint pain, tiredness, loss of sex drive and abdominal pain. Symptoms detectable at a later stage include irregular heartbeat, diabetes, cirrhosis of the liver and joint damage.
What causes it? The vast majority of haemochromatosis is caused by a genetic mutation that deactivates the protein that controls iron absorption.
How can it be diagnosed? An initial blood test checks patients' levels of iron and serum ferritin, the iron-storage protein. If levels are high a genetic test will confirm the diagnosis.
What treatment is available? If the condition is detected before patients' organs and joints have been damaged, their levels of stored iron are reduced by regular withdrawals of blood (venesections). If organs such as the pancreas, liver and heart have already begun to be damaged, other treatment will also be required.