Haemochromatosis is an iron overload disorder caused by a genetic fault inherited from both parents. It causes too much iron to be absorbed from food, overloading vital organs over time and potentially causing organ damage or death if left untreated. However, early diagnosis through simple blood tests and regular treatment by removing blood can prevent complications and allow people to live a normal, healthy life expectancy.

1. “we all have to die of
something, but it shouldn’t
be haemochromatosis”
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2. Haemochromatosis
 What is this ‘Haemo’ you may ask?
IRON OVERLOAD
 This can be toxic to our body organs.
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3.  fault in an iron control gene inherited from both parents
 runs in families
 too much iron absorbed from food
 iron overload can cause organ damage and eventually death
 early diagnosis and simple
treatment prevents complications
 normal health and life expectancy
is possible
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4.  men and women are equally at risk
genetic  Caucasian people are at risk 1 in 200 have the fault
fault
 it runs in families so family members at risk
excess  frequent and heavy alcohol drinkers
iron  taking iron supplements
 eating large amounts of iron-rich foods
 taking high doses of vitamin C
iron
overload  men & post-menopausal women at greatest risk
 (people who donate blood are at lower risk)
organ  untreated haemochromatosis
damage
 frequent and heavy alcohol drinkers
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5.  relatives of people with haemochromatosis are at risk
 relatives need to be tested
– brothers and sisters
– mother and father
– children over 18 years
– grandparents
– aunts, uncles
– nieces, nephews
– half-siblings
unrelated people children brothers & sisters
1 in 200 risk 1 in 20 risk 1 in 4 risk
cousins are more distant so routine testing isn’t strongly recommended
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6.  simple blood tests, arranged by a doctor, can detect
– iron overload
– the genetic faults
 simple treatment removes excess iron
– giving blood, just like a blood donation at a blood bank
– this is called „venesection‟
– 500mL blood = 1 venesection = 0.25 grams iron
 simple advice on diet helps to prevent extra iron absorption
 haemochromatosis can‟t be treated by diet alone
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7.  harder to diagnose early…..
fatigue, weakness,
lethargy, apathy,
weight loss, joint aches
abdominal pains…..
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8.  classical description was “bronze diabetes”
 easier to diagnose late…..
the “iron salute”
1st & 2nd finger
knuckle arthritis
liver failure and pigmented skin
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9. LIVER liver damage, cirrhosis, liver failure, liver cancer,
sometimes requiring liver transplant
symptoms of fatigue, liver pain, enlarged liver, weakness, weight
loss, abnormal blood tests for liver function, jaundice (yellowness of
skin and whites of eyes)
HEART arrhythmias, cardiomyopathy, heart failure
symptoms of fatigue, palpitations, shortness of breath,
breathlessness with exertion, ankle swelling
PANCREAS iron in the pancreas can cause diabetes
symptoms of high blood sugar include fatigue, thirst, hunger,
increase in urinary frequency, slow-to-heal skin infections,
dizziness
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10. JOINTS most commonly affected joints are the hands,
wrists, shoulders, hips, knees and ankles
arthritis can lead to joint replacement surgery at a young age
a classic finding is of swelling in the 1st and 2nd finger knuckles and
the “iron salute”
SKIN iron overload may cause slate grey or bronze
discolouration of the skin, loss of body hair
SEX men: low testosterone, impotence (erection problems), loss of
ORGANS libido, shrinking testicles (which doctors call testicular atrophy),
development of „man boobs‟ (which doctors call gynaecomastia)
women: irregular or no periods, early menopause, loss of libido
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11. gene test tells you
iron studies tell about your future
you about your risk of iron
current iron overload and if
overload your family needs
to be tested
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12.  venesection / phlebotomy treatment removes excess iron
– Like a blood donation
 1. iron unloading phase – frequent venesections
 2. life-long maintenance phase
– monitoring iron levels at least every 12
months, usually every 3-6 months
– enough venesections every year to keep
SF at a safe level (highly individual)
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13. “we all have to die of
something, but it shouldn’t
be haemochromatosis”
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