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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.

Click here for current best practice.

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

  • Confirmed elevated Transferrin Saturation (persistently raised ferritin on its own is not sufficient)
  • Adult (>16 years) siblings and offspring* of p.C282Y homozygotes
  • (*It is more cost effective to screen the partner before children when testing two or more children)

Testing is not indicated in the following situations:

  • Testing asymptomatic parents of p.C282Y homozygotes
  • Testing of adult first-degree relatives of p.C282Y heterozygotes
  • Testing of minors (<16 years)
  • Prenatal diagnosis is not appropriate in HFE-related HH
  • Population screening for the p.C282Y variant
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