What is haemochromatosis?
Haemochromatosis or iron overload, is an inherited disorder in which the body absorbs and stores too much iron. Most of the excess iron is stored in the liver, brain, heart and pancreas. The condition can cause liver disease, heart failure, diabetes and other complications.
Haemochromatosis is caused by a mutation in the HFE gene, which is involved in regulating the body's iron absorption and storage. People who inherit two copies of the mutated gene (one from each parent) develop the disorder. However, some people who inherit only one copy of the mutated gene may also develop haemochromatosis if they have other factors that contribute to iron overload, such as:
- Alcoholism
- Certain medical conditions, such as diabetes, hypothyroidism, and chronic kidney disease
- Certain medications, such as oral contraceptives and vitamin C supplements
Haemochromatosis can be diagnosed with blood tests that measure iron levels, and biopsies of the liver and other affected organs. Treatment for haemochromatosis involves removing the excess iron from the body through phlebotomy (blood letting), and sometimes medication.