What is Haemochromatosis?
Haemochromatosis is the condition of iron overload in the body. The iron overload comes about because the body continually absorbs more iron from the diet than it needs. The body is then unable to rid itself of the excess. The excess slowly builds up over a number of years and damages the organs where it is stored. It is rare for iron to build up to a damaging level in childhood, and it often does not happen for several decades.
The underlying cause is the inheritance of mutated gene. The faulty gene stops the normal body iron control working properly. A faulty gene, therefore haemochromatosis, can only be inherited. Haemochromatosis cannot be caught from somebody else, nor can you give it to someone else, except by having a child.
Although haemochromatosis is closely associated with one particular gene mutation, not everybody who has inherited that gene mutation will develop iron overload: indeed the proportion that does so may be quite small. Inheritance of the mutated gene greatly increases the likelihood of developed haemochromatosis but does not on its own cause haemochromatosis. Other factors must be involved, but it is not yet known what they are.
Haemochromatosis is often referred to as the 'Curse of the Celts', it affects up to 1 in 400 people in the UK and about 1 in 10 are carriers. There is a particular high proportion of people with Celtic backgrounds, this is particularly pertinant in Wales, where the population is made up of indigenous Welsh Celts, along with a high proportion of Scottish and Irish immigrant backgrounds brought into Wales in the late 19th and early 20th Century in search of work in the Welsh Coalfields.
In the early stages of haemochromatosis there may be no evident signs or symptoms. It takes many years for significant iron overload to occur, and it takes even more for organ and tissue damage to become evident. If signs and symptoms are present, they can take any one of many forms. Even in fairly advanced cases the patient may not display clear, tell tale symptoms. This is why haemochromatosis is often under-diagnosed. Persistent lethargy and tiredness are the most common complaints.
Diagnosis at an early age leads to less or no organ damage. On the other hand, the older the individual at the time of diagnosis, the higher iron storage levels may be the greater the risk of organ damage. The most common age of diagnosis for members of the Haemochromatosis Society was 52, but the range is from 26 to 77. People are being diagnosed earlier today because of increased awareness of the condition.
