Haemochromatosis: symptoms & diagnosis
What are the symptoms of haemochromatosis?
Although haemochromatosis is inherited, the build-up of iron in the body happens quite slowly and symptoms do not usually appear until a person is aged 30 or 40 years old. In women, this is commonly closer to 50 years. For many the lifetime build-up of iron is quite small and does not cause clinical problems. When symptoms do appear, they may include the following:
tiredness, fatigue or lack of energy
a feeling of weakness in your limbs
pain in the joints, especially in the knuckles and in the joints of your first two fingers
pain in your stomach or abdomen
loss of libido (sex drive) and possibly
impotence or early menopause
evidence of liver damage from scarring (fibrosis) and cirrhosis
cardiomyopathy (disease of the heart muscle)
type 2 diabetes
a yellowing or ‘bronzing’ of the skin
How is haemochromatosis diagnosed?
Doctors may investigate and rule out a range of other illnesses that share the same symptoms before haemochromatosis is suspected. Abnormal iron levels are often the only sign of haemochromatosis. Therefore, the most important tests for detecting iron levels in the blood are the transferrin saturation and serum ferritin tests.
Transferrin is a protein that binds iron in the blood serum and carries it around your body. This test measures the level of iron in your blood against the capacity of the blood iron binding protein (transferrin) to bind it. This is known as the Total Iron Binding Capacity or TIBC.
Ferritin is the protein that stores iron in the tissues. Small amounts of ferritin are found in the blood serum and as the amount of iron in your body increases, so do the levels of ferritin in the serum.
Genetic testing is a more recent development in haemochromatosis and is used to determine whether you have the HFE gene mutation. Doctors may use the test to identify the cause of high iron levels detected in the TS and SF tests. Genetic testing is positive in over 90% of people with iron overload
If liver damage is suspected, liver function tests (LFTs) may also be used. These involve taking a sample of blood and looking at different properties of your blood to gain an idea of how much your liver is inflamed or damaged in its ability to work properly. In particular, doctors will be concerned to measure levels of the liver enzymes ALT and AST which are increased during liver inflammation (hepatitis).
The genetic test has reduced some of the need for liver biopsy to confirm haemochromatosis. However, if you have high serum ferritin (over 1000 mcg per litre) or signs of liver damage doctors may use a liver biopsy to confirm their diagnosis and to assess the severity of any liver fibrosis/cirrhosis.
During a liver biopsy a tiny piece of the liver is taken for study. To do this, a fine hollow needle is passed through the skin into the liver and a small sample of tissue is withdrawn.
As well as measuring liver damage, liver biopsy enables chemical analysis of the iron concentration in the tissue sample. This is useful when iron overload is suspected in people who do not have the ironloading genotype (the abnormal gene pairs likely to cause haemochromatosis).
In addition to blood tests and liver biopsy it may be necessary for medical staff to use ‘imaging’ equipment to help them detect the presence of iron build-up in your body. This is most likely to be a MRI scan, although ultrasound technology is sometimes used to guide a liver biopsy.
Magnetic Resonant Imagery (MRI) is a special tube scanner used to provide a detailed view of the liver. It creates powerful magnetic fields by releasing radio frequency energy to act on water molecules in your body. A type of radio signal is returned and picked up by the MRI equipment. This is relayed to a computer that can generate very detailed cross-sectioned images (or ‘slices’) of your liver area.
Diagnostic technology has been developed specifically for iron-overloading disease. ‘Ferriscan’ is a procedure that has been developed to analyze the MRI scans themselves in order to measure iron
Treatment for haemochromatosis
Treatment of haemochromatosis is simply aimed at removing iron from your body. As the body has no natural method for getting rid of the extra iron, this is done by regular bleeding known as phlebotomy.
During phlebotomy a unit of blood, usually 450 millitres (ml), is removed. This amount will contain 220mg of iron. Bleeding in this way will activate the remaining stored iron to make new red blood cells.
You will be required to have phlebotomy up to once a week, depending on the degree of your iron overload. This may continue for up to two years. Over this period doctors will monitor your serum ferritin levels until they fall to a safe level (generally 20 mcg per litre). Removing blood does not stop the iron building up.
After your course of treatment you will need to have further phlebotomies two to four times a year for the rest of your life. Doctors will continue to monitor transferrin saturation and serum ferritin levels (ideally maintained at 50% and 50 mcg per litre respectively) to assess when phlebotomy may be required. This is known as ‘maintenance therapy’.
An enlarged liver may reduce in size but if cirrhosis has become advanced, improvement is unlikely. If you have cirrhosis, doctors may run blood tests and imaging tests at regular intervals (usually every six months). Having cirrhosis will put you at a much higher risk of developing hepatocellular carcinoma (HCC). If this occurs, a liver transplant may be required.
If you have a family history of haemochromatosis, you should see a medical professional as soon as you can.
Relatives may be at risk and need to be encouraged to be screened by genetic testing to find out whether they carry the HFE gene mutation (though children do not need to be tested until they reach adulthood and can decide for themselves). ‘Screening’ in this sense means testing people who have no symptoms but are considered to be at increased risk of a particular disorder.
It is very important that brothers and sisters are screened because they are more likely to carry
both abnormal genes.
Genetics is a complex and fast-changing area. Genetic counselling can help you to better understand the likely occurrence of haemochromatosis in your family or explain the implications of any diagnosis. Genetic counsellors are specially trained professionals, usually from a medical or nursing background, who have first-hand knowledge of genetic disease and its practical impact.
You may wish to talk to a counsellor to find out more about an inherited disorder in your family or
you can be referred for counselling by a GP or hospital consultant following diagnosis.
In general people with haemochromatosis do not need specific dietary advice, although you may be cautioned to:
- Avoid taking supplements or multi-vitamins which contain iron
- Avoid taking supplements which contain vitamin C as this may increase iron absorption
- Keep alcohol intake to a minimum as this may also affect iron absorption and can accelerate liver damage.
Approximately 10% of people with haemochromatosis will develop cirrhosis and may need to follow specific diet advice. Read more about diet and cirrhosis here.
Please visit the support section of our website for information on Support groups in your area or visit our Useful Links section for other organisations who may be able to offer information and support.
Henrith Business Centre
3 Enterprise Way
Spalding, Lincolnshire, PE11 3YR
Office: 03030 40110
Advice Line: 03030 401102
Promotes awareness among the health professions, patients and their families, the general public and policy makers.It encourages and supports research, publishes a quarterly newsletter and provides resource material for the medical professions.
Irish Haemochromatosis Association
The Carmichael Centre
North Brunswick Street
Provides support and information for people with haemochromatosis and related disorders in Ireland. It produces a newsletter, brochures and other media to provide information and raise awareness of haemochromatosis.
Please visit the support section of our website for information on Support groups in your area.
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