Tue 29 May 2018
Haemochromatosis is the most common genetic disorder in Australia.
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We know we need iron in our diet and that iron deficiency is a major cause of anaemia, but you can have too much of a good thing. Iron levels in the body are carefully regulated by varying the amount of iron we absorb from the diet. So it is unlikely you will get too much iron even if you eat a diet very rich in sources of iron.
However, people of Northern European origin have about a 1 in 200 chance of having a genetic abnormality that can cause excessive iron absorption and storage. We call the condition Haemochromatosis and it is the most common genetic disorder in Australia.
If untreated, the iron accumulation can damage the liver, pancreas and heart. Early symptoms include fatigue, joint pain and a loss of well-being. Because the body has no effective way of excreting iron, the accumulation in organs and joints increases over time and can lead to serious diseases such as cirrhosis or liver cancer. It can also cause other health problems including heart disease, diabetes, endocrine and sexual dysfunction and arthritis.
Hereditary Haemochromatosis is what we call a recessive condition, meaning you need a copy of the affected gene from both parents to display symptoms. However, because the mutation, known as C282Y is carried by about 1 in 8 Northern Europeans the chances of both parents being carriers and producing an affected offspring is about 1 in 200.
Laboratory investigation for hereditary haemochromatosis usually begins with two blood tests: transferrin saturation and serum ferritin, which are measures of the body's iron metabolism and iron stores. Confirmatory tests can include genetic testing and liver biopsy.
World haemochromatosis week #2018WHW is from 4th – 10th June and for more information on this condition please visit www.haemochromatosis.org.au