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Haemochromatosis (too much iron)

  • Too much iron in the body is usually due to hemochromatosis.
    • The diagnosis of "too much iron" is not always straightforward.
    • The main diagnostic test is a raised serum ferritin.
    • The degree of elevation of ferritin usually reflects the amount of iron in the body however there are other causes of a raised serum ferritin (see below).
  • Hemochromatosis is an inherited disorder that causes the body to absorb and store too much iron.
    • The extra iron builds up in organs and damages them.
    • Without treatment, the disease can cause these organs to fail.
    • Hemochromatosis is mainly associated with a defect in a gene called HFE. This gene helps regulate the amount of iron absorbed from food.
    • There are two known important mutations in HFE, named C282Y and H63D.
    • C282Y is the most important. When C282Y is inherited from both parents, too much iron is absorbed from the diet. H63D usually causes little increase in iron absorption, but a person with H63D from one parent and C282Y from the other may rarely develop hemochromatosis.
    • The genetic defect of hemochromatosis is present at birth, but symptoms rarely appear before adulthood. A person who inherits the defective gene from both parents may develop hemochromatosis.
    • A person who inherits the defective gene from only one parent is a carrier for the disease. There may be a slight increase in iron absorption but not enough to cause problems.
    • Hereditary hemochromatosis is one of the most common genetic disorders. It most often affects Caucasians of Northern European descent, although other ethnic groups are also affected.
    • About 1:200 people have two copies of the abnormal hemochromatosis gene and are susceptible to developing the disease. One person in 1:12 is a carrier.
    • Men are about much more likely to be diagnosed with the effects of hereditary hemochromatosis than women. Men tend to develop problems at a younger age. Females have the protective effect of menstruation.




Screening of relatives

  • Brothers and sisters of people who have hemochromatosis should have the genetic test to see if they have the disease (25% risk) or if they are carriers (50% risk).
  • Parents, children, and other close relatives of people who have the disease should have a serum ferritin and then the genetic test if this is abnormal.
  • An alternative to checking children is to have the partner tested.
    • If the partner is normal (no mutations) then the children can only be carriers (risk of 50%).
    • Checking children by a serum ferritin will not be useful before the age of 30 years as there has not been enough time to develop an abnormal degree of iron overload.



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