John (not his real name ) accidentally discovered he had haemochromatosis after having a melanoma removed at University Hospital Galway.
The 49-year-old who lives and works in Connemara, had never heard of iron overload disorder before and was frightened by the diagnosis.
“I went in to hospital to get a melanoma removed from my chest in 2004. I had to go back every few months for check ups. The process involved getting blood tests and my own GP spotted something in one of the tests which concerned him.
“He referred me to UHG. The hospital took more blood tests for screening - one of those was for iron overload. When the results came back I was way off the Richter scale! The normal level for iron in the blood is 100 to 200. Mine was 4,000.”
The diagnosis helped explain a lot of symptoms from which he had been suffering, such as tiredness and joint pain, he says.
“I felt very fatigued and I had a lot of joint pain. The trouble is these can be symptoms of several things. As I was middle aged I had put it all down to wear and tear.”
He began treatment for haemochromatosis in November 2005.
“I was scared about it all at first because I had never heard of the condition before. But the staff at the hospital were great, they explained it all to me and gave me information leaflets. I started treatment in November 2005. I had to go to the clinic every single week to give blood.”
Slight changes
It is recommended that up to a pint of blood is taken from sufferers, explains John. “I couldn’t give [that much], I tried it and I keeled over. It depends on your metabolism. After one year of the treatment I could see slight changes. The colour of my skin changed and the joint pain in my fingers and toes began to go. When I was diagnosed I was in my mid forties and when I look at pictures of myself from before then my skin looked awful. I always had sallow skin but with the condition I looked bronzed.
“I had MRI and ultrasound scans to check if my organs had been damaged by the iron overload. If it goes untreated you can have organ failure. A lot of people died from it in the past. I was lucky I had no long term damage. After three years I am now down to my proper iron level.”
His nine siblings were advised to get tested for the condition but their results were normal, he says.
Researching haemochromatosis helped him greatly, he says. The more he learned about it, the less fearful he felt.
“I was worried initially because I knew nothing about it. It was the unknown. Then I realised it could be a lot worse. You live quite a normal life. Mentally, you just have to get it into your head that this is a lifelong condition, you have to be monitored. If I hadn’t been diagnosed I probably wouldn’t be here today. I’m forever grateful to my GP for picking it up.”
What is haemochromatosis?
Haemochromatosis or iron overload disorder is a condition which causes the body to absorb too much iron.
The excess iron gradually accumulates, usually in the liver, pancreas, joints, heart or the endocrine glands.
There are two types of haemochromatosis - hereditary and acquired. In hereditary haemochromatosis the body absorbs too much iron from the diet. The latter can be caused by excessive blood transfusions, toxins (eg, alcohol ), rare disorders of blood synthesis or hepatitis C.
In the early stages of haemochromatosis symptoms are vague and often not specific to any particular condition. They include lethargy/fatigue, weight loss, joint pains, abdominal pains and impotence. As the disease progresses the symptoms and signs relate to the various organs that are damaged.
* Liver: Swelling of the liver or cirrhosis (permanent scarring )
* Pancreas: Development of diabetes
* Pituitary gland: Testicular atrophy, impotence in males, and irregular menstruation, infertility and early menopause in females.
* Heart. Palpitations, irregular heartbeat and heart enlargement.
* Joints. Swelling especially of the first two finger joints.
* Skin: Bronzing.
Maintenance therapy
The condition is diagnosed by blood tests. Treatment involves the regular removal of blood once or twice a week, depending on the severity of the iron overload . Maintenance therapy is lifelong.
Iron overload disorder is more prevalent in Ireland than anywhere else in the world, according to Margaret Mullett, spokesperson for the Irish Haemochromatosis Association.
“Its symptoms include chronic fatigue, joint pain, diabetes, loss of sex drive and irregular heartbeat.”
It is estimated that one in 83 Irish people may be predisposed to the condition. Symptoms occur earlier in men than women because women lose blood through menstruation and childbirth, she explains.
She says while many people know about iron deficiency and anaemia there is less awareness about haemochromatosis.
“It is stored in the body and the accumulated iron affects the liver, heart, pancreas, endocrine glands and joints. It can do serious damage if not diagnosed in time. The excessive iron burden leads to impaired function of these organs and eventually to disease and organ failure.
“It is more common in Ireland than in any other country in the world and is known as the Celtic Mutation. For a long time it was believed that the disorder was very rare. It was known as Bronze Diabetes due to the bronze colouring of skin which seemed to be part of the condition.”
Removing blood
When diagnosed early, haemochromatosis responds well to treatment which involves removing blood, she says.
“In the majority of cases the underlying cause of haemochromatosis is the inheritance of a mutated or faulty gene which stops the body from correctly regulating iron. There may be heavy overload before any symptoms appear. The most common symptoms are chronic fatigue, joint pain, diabetes, irregular heart beat, enlarged liver and loss of sex drive. However not all people with the genetic mutation will be predisposed to load iron.”
A simple blood test to check your iron status can confirm or rule out the disorder.
For further information contact the Irish Haemochromatosis Association at www.haemochromatosis-ir.com or e-mail [email protected] or voicemail (01 ) 8735911.
