EVERYONE SHOULD GET CHECKED!
What’s the most commonly inherited disease in Ireland? It is probably Gilbert’s Disease which, if you had to choose a disease to inherit, should be top of your list as it only causes a very mild increase in the build-up of bile which is quite harmless.
The incidence in Ireland of Haemochromatosis is about 1 in 85. It is the commonest, clinically significant, inherited disease among Irish people.
Haemochromatosis (HH) causes a build-up of iron to poisonous levels in organs and joints and can shorten life expectancy if not diagnosed before middle age. Men are affected earlier than women. Women develop symptoms later as they require a lot of iron during their reproductive years. Treatment is simply the removal of a pint or so of blood at regular intervals.
Approximately 1 in 5 Irish people are carriers. That means that 1 in 25 sets of parents have at least a 1 in 4 chance of having a child who is a double carrier and thus likely to develop the disease. A single carrier has a small risk of developing the disease but can pass the mutated gene on to the next generation.
If you have a close relative who has HH or is known to be a carrier of one of the genetic mutations, your risk of having the disease is higher than normal and you may well have been advised by a relative to be screened for it.
However, because it is so common, everyone should be tested for HH. It’s most important to know whether you have the genetic make-up that may cause it before any damage occurs. It’s also important for your children’s sake to know whether you might pass on carrier status to them.
We do a simple non-fasting blood test. This checks your ferritin level which indicates the level of iron in the body and tells us if we need to check further, including whether you have may have one of the genetic mutations which can cause HH. We know from the size of our practice and the incidence in the general population that we have only diagnosed about 50-60% of our practice patients who have haemochromatosis.
We have developed a special interest in the management of HH in our practice. We routinely test everyone in the practice who has to have a blood test for any other reason. We look after all the investigations, monitoring and treatment of our diagnosed patients ourselves, usually without need for any specialist involvement.
Ask if your ferritin has been checked the next time you come in.