Haemochromatosis (iron overload disorder) is one of the most common hereditary diseases.
The disease results in excessive absorption of iron in the body.
Usually, excess iron is safely stored in various joints and organs in the body, particularly in the liver.
In a person with haemochromatosis, iron stores continually increase and, the liver enlarges and becomes damaged over time, leading to diseases such as cirrhosis.
Other medical issues that can be caused by excessive iron include heart disease, diabetes, and arthritis.
Females usually develop the condition later in life, as regular menstrual periods deplete the body of iron.
The continual build-up of iron in the body happens quite slowly and symptoms don’t often appear until a person is aged 30 or 40 years old.
In women, this is usually closer to 50 years. For many the lifetime build-up of iron is minimal and doesn’t cause major medical problems. When symptoms do appear, they may include:
- tiredness, fatigue, or lack of energy
- limb weakness
- joint pain, especially in the knuckles and in the joints of your first two fingers
- stomach pain
- loss of libido (sex drive)
- impotence / early menopause
- evidence of liver damage from scarring (fibrosis) and cirrhosis
- Heart disease
- type 2 diabetes
- a yellowing or ‘bronzing’ of the skin
Doctors investigate and rule out a range of other illnesses which share the same symptoms before a haemochromatosis test is undertaken. Unusual iron levels are commonly the only sign of haemochromatosis. So, the most important tests for detecting iron levels in the blood are the transferrin saturation and serum ferritin tests.
Treatment of haemochromatosis is usually aimed at removing iron from the human body. As the body has no natural method for getting rid of the extra iron, this is conducted by regular bleeding known as phlebotomy.
If you have a family history of haemochromatosis, you should discuss with a medical professional as soon as you can.
Relatives could 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 don’t need to be checked until adulthood and they can decide for themselves). ‘Screening’ in this sense means testing people who have no symptoms but are at an increased risk of a disorder.
It’s recommended that brothers and sisters are screened because they are more likely to carry both abnormal genes.
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 background, who have strong knowledge of genetic disease and its practical impact.
You can 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 a diagnosis.