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Hereditary haemochromatosis (HH) is a recessively-inherited disorder, characterized by excessive absorption of dietary iron, prevalent in Caucasian populations. If left untreated it can lead to morbidity and mortality, including liver cirrhosis, hepatocellular carcinoma, diabetes and heart disease. Early treatment by phlebotomy can help prevent complications (European Association For The Study Of The Liver 2010).

The most common and well-defined form of HH is that due to homozygosity of p.C282Y variant in the HFE gene. It has been estimated that 1 in 200-300 Caucasian individuals are homozygous for p.C282Y but 75%-85% of those do not develop the disease (European Association For The Study Of The Liver 2010). Due to incomplete penetrance of the disease, homozygotes for p.C282Y is not sufficient to diagnose Haemochromatosis and this has important implications for molecular genetic diagnostic practices.

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In accordance with best practice guidelines testing is only indicated in patients that meet the following criteria:

Testing is not indicated in the following situations: