7th July 21:11
Doctor's set me up for 20 years of misery (diabetes diet psychotherapy down phenylketonuria)
Tired? aching? Lost interest in ***? This could be the surprising
By JEROME BURNE - Do you feel tired much of the time? Do your joints
ache? Does *** seem a lot less interesting than it used to?
You could be one of an estimated 150,000 people in the UK who have the
genetic disorder 'haemochromatosis', a condition that is almost never
diagnosed until it has damaged essential organs such as the liver,
heart or the thyroid gland.
And yet a cheap and simple treatment can stop the aches and pains
before they start, as well as possibly saving your life.
'I would have been spared so much misery, if the disease had been
spotted in my 30s,' says businesswoman Clara Smith, now 62.
A few years ago, Clara was diagnosed with early stage Parkinson's
disease. She also has irregular heart rhythms and may need a
Both problems may be linked with haemachromatosis and she believes
that with early diagnosis she could have avoided them.
The problem for Clara and tens of thousands like her is too much iron.
Normally, people stop absorbing iron from their diet when they've got
enough, but if you've got haemochro-matosis your body just keeps on
extracting it and storing it away in various organs where it becomes
The tragedy is that few doctors are aware of the disease and fewer
still think of testing for it, even though diagnosis and treatment are
relatively simple. The first stage would be a test to determine the
iron levels in your body followed by blood-letting - as if you were
giving blood - to bring levels down and keep them normal.
'All doctors are aware of the dangers of not having enough iron,' says
Professor John Porter of the haematology unit at University College
London and one of the UK's top experts in the disease. 'But they
rarely think of the dangers of having too much.
'The irony is that in the early days the symptoms of anaemia (not
enough iron) are very similar to having too much - tiredness and
lethargy. So these patients are often given the last thing they need -
'It would be very easy to make the test for too much iron part of a
normal blood test.'
Clara says: 'I started feeling ill in my 30s. I had bad headaches,
palpitations and sore knees. I went to the doctors quite a lot. I was
diagnosed with an underactive thyroid and given a hormone to correct
it but I still didn't really feel well.'
Her health remained poor for several years and although she had
various tests, nothing serious showed up.
'I think my doctor probably regarded me as a "heart sink" patient -
someone who regularly turns up in surgery with vague symptoms that
have no obvious cause. Part of the problem was that I always looked
well, tanned and slim, but I felt terrible.'
Unknown to her then, a bronzing of the skin is another sign of the
At one point, because she was always tired, her doctor suggested she
might have CFS (chronic fatigue syndrome), a condition many doctors
believe is best treated with a form of psychotherapy. On another
occasion she was given an iron supplement.
It's all the more surprising that haemochromatosis is below most GPs'
radar because it is the most common genetic disorder in the UK - more
common than cystic fibrosis, phenylketonuria (a vitamin K deficiency
which every baby is tested for) and muscular dystrophy combined.
It is caused by a faulty gene. Every gene we carry has two halves, one
from each of our parents. In most people with haemochromatosis both
halves of the gene are faulty.
'About one in 200 people who originate from the north of England or
Scotland have two faulty halves,' says Prof Porter.
'So if people show up at the doctor's surgery with some of the early
signs - such as diabetes or thyroid problems - it makes sense to test
their iron levels.'
The very fact that haemochro-matosis is so common suggests that at
some time in the past it must have helped people survive.
But how? The clue comes from its nickname - the 'Celtic Curse'. If you
have Celtic ancestors - Scots or Irish - you have a much higher chance
of developing it.
One theory is that it started in parts of Northern Europe where it was
hard to get enough iron from your diet.
Some researches believe it originated in Ireland while others think it
emerged with the Vikings. It is certainly more common in areas that
the Vikings settled, such as the East coast of England and around
Dublin. The further south you go in Europe the less common the faulty
So a combination of being Irish, being tired all the time and having a
thyroid problem, or diabetes, should set alarm bells ringing. Clara is
Irish, but as with many others in the UK, the doctors never made the
The key to her chronic ill health was eventually discovered on the
internet by her daughter Susan.
She says: 'I'd been looking at sites that dealt with some of my
mother's symptoms when I got an e-mail about thyroid problems that
also mentioned haemochro-matosis as a possible cause.
'I'd never heard of it but as soon as I looked it up everything fell
into place. There were all my mother's symptoms; the tiredness, the
tightness in the chest, the pains, everything.'
Iron is a vital part of many proteins and enzymes and it is a key part
of the red blood vessels that carry oxygen around the body. An average
person will carry a total of around 4g in their body - but if you
develop haemochromatosis you may be carrying as much as 15 or 20g.
More than 10g and you count as overloaded.
Even when Susan made the connection, a nasty shock awaited them in
Clara's medical records.
'It turned out that my iron blood levels had actually been tested 15
years earlier,' says Clara. 'The results showed that far from not
having enough iron, my levels were sky high.
'But it was considered so unimportant that I was not even told the
result. Instead the doctor just said I had "plenty of everything" and
to "go off and enjoy life".
'Actually that was the last thing I did; that doctor's decision to
ignore those results set me up for 20 years of misery.'
But there was something else odd about Clara's diagnosis. Besides
having a second test for iron in her blood, she also had a gene test,
which revealed that - very unusually - only one of the two halves of
her gene was faulty.
'By rights I shouldn't have had any problems,' she says, 'but this
just shows that the genetics of haemochromatosis haven't been fully
sorted out yet.'
Others are luckier. About 20 to 30 per cent of those with two faulty
halves don't get the disease and most of these lucky ones are women.
Findings like these have convinced the experts that it's too soon to
call for full-scale national gene testing for haemochromatosis. 'Not
only are there still too many uncertainties, but knowing you have one
or both genes could make for insurance problems later,' says Prof
'However, just checking the iron levels of likely patients would be a
major step forward.'
A genetic diagnosis of haemochromatosis of one person in a family
usually prompts children and spouses to be tested. And for Susan, who
for years had been suffering the same sort of symptoms as her mother,
it showed that she has both faulty halves of the gene. Her father was
also a carrier, with one faulty half.
'It came as a shock,' she says, 'and I'm still coming to terms with
it, but hopefully being diagnosed early will allow me to avoid more
Susan's brother, now in his 40s, had no symptoms and thought he was
perfectly healthy. But he, too, has a set of faulty genes and hugely
raised iron levels.
'There are thousands of men in the UK with both sets of the dangerous
gene variations who think they are perfectly healthy.' says Prof
Porter. 'The first time they know anything is wrong is when they keel
over with a heart attack or suddenly find that their liver has packed
Men with the disease are more likely to show up with damaged organs
sooner because they don't regularly lose blood through their lives as
women do - menstruation protects women by flushing iron out of their
At the moment, the official NHS Direct website barely mentions
haemochromatosis; just in passing as a rare cause of cirrhosis -
serious liver damage.
According to Prof Porter: 'Thousands of lives could be immeasurably
improved and millions of pounds worth of treatment avoided if it this
genetic disorder could move off the mortuary slab and into the
The Haemochromatosis Society http://www.haemochromatosis.org.uk
Tel: 020 8449 1363.
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