Haemochromatosis – The Celtic Storage Disease
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Iron is a valuable mineral that helps make the blood rich in oxygen, helps the blood to carry oxygen to the muscles and also helps the brain and immune systems. However, while a certain amount of iron is good for us, more certainly isn’t better. Haemochromatosis is an inherited condition in which the body tends to absorb too much iron so that iron leaks out of the blood and into the joints and body organs such as the liver, heart and pancreas. This excess iron can damage the normal functioning of these organs.
Until a few years ago haemochromatosis was thought to be a fairly rare condition. Now we know it as one of the most common inherited disorders. Up to one in every five Irish men may be carriers of the gene for this condition. Men are five times more likely than women to develop iron overload, and they usually experience symptoms at an earlier age. Women tend to store less iron than men as they lose it through menstruation and pregnancy.
What Are the Symptoms?
Haemochromatosis generally causes no symptoms before the age of 30 in men. Even then it can be a silent condition for many years. However, eventually when the iron leaks out of the blood and into the organs around the body, symptoms will start to occur. These symptoms are varied and may include the following:
- Diabetes
- joint problems (arthritis) – any joint in the body can be affected
- Stomach pains
- Weakness, tiredness and chronic fatigue
- Erectile dysfunction, loss of sex drive or difficulty with erections
- Mood swings, irritability, depression or memory difficulties
- A permanent tan or bronzing of the skin
- Cardiomyopathy – where the heart muscle does not pump as efficiently as it should, leading to heart irregularities and heart failure
- Liver problems – swelling and inflammation, abnormal liver blood tests and eventually cirrhosis or liver cancer
How Is this Condition Inherited?
We all have about 30,000 genes in our bodies, which are tiny information and control centres in the cells of the body that control how the body works and grows. A mutation in just one gene can drastically alter the way your body works. To inherit haemochromatosis you need to inherit a defective gene from both of your parents. Therefore it is not necessary for either of your parents to have had haemochromatosis for you to get the condition. If you simply inherit the gene from one parent then you will be a carrier; this means you are not likely to develop haemochromatosis yourself, but you can pass on this defective gene to your own children. If you inherit the gene from both parents you will develop the condition yourself.
