Haemochromatosis is a genetic disorder which causes the body to absorb an excessive amount of iron from the diet. The iron may be deposited in various organs, mainly the liver, but also the heart, pancreas, endocrine glands and joints. Over time, these deposits of iron may cause damage to tissues.
Inherited disorders are caused by defective genes in the cells which make up the body. To develop Haemochromatosis one has to inherit a defective gene from both parents.
Many of the symptoms associated with Haemochromatosis are found in other disorders. Most individuals who have Haemochromatosis develop, in time, at least one or two of the following symptoms:
Iron tests such as Ferritin levels and Transferrin Saturation levels give an indication of the amount of iron stored in the body, as well as the iron accumulated in the body. These tests serve to indicate those who should proceed to be genetically tested and also guide doctors when treating patients with Haemochromatosis.
Genetic testing for the Haemochromatosis gene mutation is positive in over 90% of those affected. It will also help to identify other family members at risk of iron overload.
Liver biopsy, which involves removal of a small sample of the liver using a small needle, is occasionally recommended when patients' blood tests reveal liver damage or when patients' ferritin levels are extremely high. This investigation gives an indication as to the degree of tissue damage which may have occurred.
Relatives at risk of developing iron overload should be tested. This is essential in the case of brothers and sisters who stand a 1 in 4 chance of being affected. Parents and children from the age of 18 years should also be tested.
Treatment consists of regular removal of blood known as phlebotomy. It is usually performed once weekly depending on the degree of iron overload. During treatment, serum ferritin levels are monitored and treatment usually continues until the ferritin level reaches 20. As excess iron will continue to be absorbed, the individual will need occasional phlebotomy sessions, on average every 3-4 months for the rest of their lifetime. Monitoring of transferrin saturation and ferritin is used to assess whether phlebotomy is required more or less often.
It is not possible to treat Haemochromatosis on a low iron diet alone. The following recommendations are important, however:
For support and further information please visit www.haemochromatosis-ir.com