Haemochromatosis is an inherited condition which results in too much iron being stored in the body. This build-up of iron is known as iron overload and if left untreated, this can damage parts of the body such as the liver, joints, pancreas and heart.
Haemochromatosis is caused by a faulty gene that affects how the body absorbs iron from your diet. Iron levels in the body slowly builds up over many years and the condition means that your body doesn’t have a way of getting rid of the iron overload, so if you have too much it gets deposited in the organs and joints.
Haemochromatosis most often affects people of white northern European background and is particularly common in countries with a Celtic background, such as Ireland, Scotland and Wales. It is found in as many as 1 in 113 people in Scotland.
Because it takes a long time for the iron to build up, for the common type of hereditary haemochromatosis, symptoms are usually first seen between the ages of 30 and 60. It can take longer for symptoms to be seen in women, as they have periods and are therefore losing iron each month naturally.
Excess iron is extremely toxic and can affect many parts of the body and genetic haemochromatosis affects everyone differently. Many people experience one or more symptoms, but some people don’t experience any noticeable symptoms.
Symptoms of genetic haemochromatosis can include the following:
- Arthritis; may affect any joint but particularly common in the knuckle and first joint of the first two fingers. If arthritis is found only in the first two finger joints this is highly suggestive of genetic haemochromatosis.
- Chronic fatigue, weakness, lethargy.
- Abdominal pain, sometimes in the stomach region or the upper right-hand side and sometimes diffuse.
- Neurological/psychiatric disorders, impaired memory, mood swings, irritability, depression.
- Sexual disorders, loss of sex drive, impotence in men.
- Absent or scanty menstrual periods and early menopause in women
- Bronzing of the skin, or a permanent tan, or grey tone.
- Cardiomyopathy, disease of the heart muscle.
- Late onset diabetes.
- Pituitary or adrenal issues.
- Liver disorders: abnormal liver function, enlarged liver, cirrhosis, liver cancer.
- Decrease in body hair.
Most individuals who have genetic haemochromatosis will, if untreated, develop at least one or two of the above symptoms, although possibly only in a very mild form. There may be a long phase of the condition where there are no symptoms. The need for treatment to remove excess iron does not depend upon the presence of clinical symptoms as the risk of developing a serious complaint such as cirrhosis is much too great to be overlooked.
Treatment of haemochromatosis
If the condition is diagnosed and treated early on, haemochromatosis does not affect life expectancy and is unlikely to result in serious problems. But if it’s not found until it is more advanced, the high iron levels can damage parts of the body.
There is currently no cure for haemochromatosis, but there are treatments that can reduce the amount of iron in the body and reduce the risk of damage.
There are 2 main treatments available
Venesection (phlebotomy) – a procedure to remove some of your blood; this may need to be done every week at first and can continue to be needed 2 to 4 times a year for the rest of your life. Once Iron leves are stable, the Scottish Blood Transfusion Service can take over the blood letting.
Chelation therapy – where you take medicine to reduce the amount of iron in your body, this is only used if it’s not easy to regularly remove some of your blood.
You do not need to make any big changes to your diet to control your iron levels if you’re having treatment, but you’ll usually be advised to avoid:
- Breakfast cereals which have been fortified with iron
- Iron and vitamin C supplements
- Drinking too much alcohol
- Raw oysters and clams
SUMMARY
There is currently no cure for haemochromatosis, but the good news is that there are treatments that can reduce the amount of iron in your body. This can help relieve some of the symptoms and reduce the risk of damage to organs such as the heart, liver and pancreas.
Haemochromatosis can usually be diagnosed with blood tests. If you have persistent symptoms of haemochromatosis, these symptoms can have a number of causes, and it is important to rule out some of these before arranging to have a blood test. Also, if a parent or sibling has been diagnosed with haemochromatosis, even if you do not have any symptoms, you may be at risk of developing the condition.
If you have persistent symptoms above, have a parent or sibling with the condition and you feel that you would like to discuss and potentially be tested for haemochromatosis, then please do not hesitate book an appointment with me.
https://www.haemochromatosis.org.uk
Source material: NHS conditions and Haemochromatosis UK