Jeans for Genes Friday 21st September
There are between 4,000 and 6,000 diagnosed genetic disorders. It is estimated that 30,000 babies and children are newly diagnosed in the UK each year.
The role your genes play in shaping who you are doesn’t end at birth. Your genes are constantly being used by your body throughout your life to keep it functioning. They interact with the environment around you and influence everything from your health to your appearance, your behaviour and your personality. ‘Jeans for Genes’ day is a national fundraiser that occurs on the penultimate Friday each September in the UK. The money raised is distributed through t
he Jeans for Genes Grant Programme for care services for children and information and support for families.
The Celtic Disease
Haemochromatosis is a genetic disorder which is particularly relevant to Irish people. It is often referred to as the ‘Celtic Disease’. This name comes from the fact that it is most commonly found in Celtic Nations – Ireland, Scotland, Isle of Man, Wales, Cornwall and Brittany.
In Europe, between 1 in 300 and 1 in 400 people have the potential to develop the condition. In Ireland, by contrast, 1 in 83 people have the two genes and are predisposedto develop haemochromatosis. 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 of people that do so may be quite small.
Symptoms
Haemochromatosis causes the body to absorb an excessive amount of iron from the diet: the iron is then deposited in various organs, mainly the liver, but also the heart, endocrine glands such as the pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs.
Fatigue … liver problems … joint problems is a ‘typical’ order of symptoms developing (though this does vary of course). Joints complaints are typical of the elderly and sexual problems typical of younger people at diagnosis.
Testing and Diagnosis
Haemochromatosis can usually be diagnosed with blood tests. If you think you might have haemochromatosis make an appointment with your Doctor. The usual, relatively simple, and highly effective treatment for genetic haemochromatosis consists of regular removal of blood. Known as venesection, venesection therapy or phlebotomy.
References
http://haemochromatosis.org.uk/