The HFE gene encodes a protein that controls the amount of iron absorbed from the diet.
Yes, by regular blood donations to remove excess iron from the body.
1 in 9 people of European ancestry carry one of the HFE mutations and about 1 in 300 are estimated to have two copies of the mutated HFE gene, which increases the risk of hemochromatosis.
An iron disorder in which the body absorbs and stores too much iron, leading to damage in the body’s vital organs, joints and tissues.
Yes, family members of an affected individual have an increased risk of developing hemochromatosis and should be carefully monitored so treatment can begin before organ damage occurs.
The symptoms of hemochromatosis vary between individuals. The most common early symptoms include fatigue, joint pain, abdominal pain, depression and memory problems. In later stages, further organ damage occurs leading to endocrine, cardiovascular, skin and bone problems, which can be fatal if left untreated.
By genetic testing for the HFE mutations in conjunction with iron panel tests to determine the level of excess iron absorbed and stored in the body. Other tests, such as liver biopsies, liver function tests, electrocardiograms and CT scans may also be required.
This test identifies the presence or absence of three mutations in the HFE gene (C282Y, H63D and S65C), which are associated with an increased risk of hemochromatosis.
If I test positive for one of the HFE mutations, does that mean that I will definitely develop hemochromatosis?
No, not everyone who carries one or more copies of the mutated HFE gene will suffer from hemochromatosis. C282Y is the most common mutation but approximately 30% of people that carry two copies of this mutation will never develop hemochromatosis.
Over 85% of people affected by hemochromatosis have one or more of the HFE mutations (C282Y, H63D and S65C). 80-85% of affected people carry two copies of the C282Y mutation (C282Y homozygotes).