Haemochromatosis is a genetic (inherited) disorder causing the body to absorb too much iron from the diet. The excess iron is then stored in various organs, mainly the liver. The excess iron may also be stored in the pancreas, heart, testes/ovaries, skin and joints. The main treatment is the regular removal of blood, which helps to remove the excess iron from the body. If treatment is started early enough and before complications occur then the outlook for people with haemochromatosis is very good.
What is haemochromatosis?
Haemochromatosis is a genetic (inherited) disorder causing the body to absorb an excessive amount of iron from the diet. The excess iron is then stored in various organs - mainly the liver. The excess iron may also be stored in the pancreas, heart, testes/ovaries, skin and joints. 'Genetic' means that you are born with it and it is passed on through families through special codes inside cells called genes. There is now a gene test that can help to diagnose most people who have haemochromatosis.
Normally the liver stores a small amount of iron. When excessive quantities of iron are stored in the liver it becomes enlarged and damaged. Deposits of iron may also occur in other organs and joints, causing serious tissue damage.
How is it inherited and how common is it?
If you have haemochromatosis, one of your genes does not work properly. A few different genes may be involved but 9 out of 10 people with haemochromatosis have an abnormal 'HFE' gene, which is on chromosome 6.
Haemochromatosis is a 'recessive' disorder. This means that haemochromatosis will only occur if both copies of the gene are abnormal. If only one copy is defective, a person will be perfectly healthy but will be a 'carrier'. This means he or she will be able to pass on the abnormal gene to a son or daughter.
Haemochromatosis occurs in people from all parts of the world but is most common in people from Northern Europe. Recent surveys have shown that 1 in 250 of people of Northern European origin have the abnormal gene and so are likely to be at risk of developing iron overload. Haemochromatosis is now recognised as being one of the most common genetic disorders.
When two people who carry the abnormal gene have a child, there is a:
- 1 in 4 chance that the child will have haemochromatosis (by inheriting the abnormal gene from both parents).
- 2 in 4 chance that the child will not have haemochromatosis, but will be a carrier (by inheriting the abnormal gene from one parent but the normal gene form the other parent).
- 1 in 4 chance that the child will not have haemochromatosis, and will not be a carrier (by inheriting the normal gene from both parents).
These proportions are averages for the whole population and in any one family with both parents being carriers, it would be possible for all children to be affected, all to be carriers, or for all not to be affected or be carriers.
How recessive inheritance works when both parents are carriers (n = normal gene; H = gene for haemochromatosis):
©The Haemochromatosis Society
How does it present?
Symptoms usually start between the ages of 30 and 50 years. The first symptoms are usually vague and may include feeling weak and tired, pain in the joints and pain in the tummy.
As haemochromatosis progresses, more specific symptoms develop but these are now much less common because of earlier diagnosis. There problems include diabetes, increase in the size of the liver, cirrhosis of the liver, bronzing of the skin (like a permanent tan), disease of the heart muscle (cardiomyopathy) and joint problems, especially the knuckle and the first joint of the first two fingers.
Advanced haemochromatosis may cause loss of sex drive and less body hair. Impotence may occur in men. Women may have either no menstrual periods or very light menstrual periods. Early menopause may also occur in women with haemochromatosis. Other problems may include poor memory, feeling irritable and depression.
Most of these symptoms are found in other disorders and so diagnosis can be difficult. Arthritis found only in the knuckle and the first joint of the first two fingers is very suggestive of haemochromatosis.
The need for treatment to remove excess iron does not depend on the presence of symptoms. Because of the risk of developing a serious complication such as cirrhosis, treatment to remove excess iron from the body is very important even if there are no symptoms.
How is it diagnosed?
The first tests are to see how much iron is stored in the body. This can be done by having blood tests for ferritin and transferrin saturations. Initial tests will check for any other possible causes of the symptoms. Tests will also be done for any possible complications of haemochromatosis such as problems with the liver.
The test to diagnose haemochromatosis is the gene test for the HFE gene, which is abnormal in 9 out of 10 people with haemochromatosis.
A liver biopsy used to be needed but is much less often done now because of the gene test. However, a liver biopsy may be needed if the iron level in the body is very high or there seem to be other problems with the liver.
Other tests may be needed to check for complications of haemochromatosis, such as a scan of the heart (echocardiogram).
Who should be tested?
Anyone with symptoms indicating possible haemochromatosis should be tested for the level of iron in the body. The gene test should be offered if the iron level is high.
Brothers, sisters and children of anyone who has haemochromatosis should be tested for the abnormal gene. The test should only be done after talking to a health professional about the possible benefits and problems of having the test.
The clear benefit of being tested is to have treatment early before any complications occur. Possible problems include the psychological impact of a positive test and difficulties getting insurance if the test is positive. See also separate article called Gene and Chromosome Tests.
How is it treated?
The simple and effective treatment consists of regular removal of blood, which is also known as venesection therapy or phlebotomy. This may need to be done frequently at first, depending on the level of iron overload in the body. The levels of iron in the body are monitored closely during treatment.
Regular blood removal will not cure some of the complications of haemochromatosis such as diabetes or liver cirrhosis. Therefore early diagnosis and treatment is very important.
Liver transplant may occasionally be needed if the liver is very badly affected.
What about diet?
The increased levels of iron in the body cannot be treated by diet alone. Removing blood has a much bigger effect on reducing the levels of iron in the body. However, there are some recommendations:
- Avoid vitamin supplements or tonics containing iron, and breakfast cereals heavily fortified with iron.
- Large doses of vitamin C should also be avoided because it increases the amount of iron absorbed from food eaten. Vitamin C also increases the amount of iron stored in the body.
- Reduce intake of offal (eg, liver and kidney) and red meat.
- Reduce alcohol intake, especially with meals, as it may increase iron absorption and it can also cause liver disease.
- Tea and all milk products taken with a meal reduce the amount of iron absorbed from food.
What are the complications?
The possible complications of haemochromatosis include diabetes, liver cirrhosis and heart disease. People with haemochromatosis who develop cirrhosis are also at increased risk of liver cancer and should be checked regularly with ultrasound scans or MRI scans.
What is the outlook (prognosis)?
If haemochromatosis is diagnosed and treated early before any complications develop the outlook is very good with no reduction in life expectancy. If complications do occur then the prognosis may be much worse.
Further help & information
Further reading & references
- Management of HFE Hemochromatosis; European Association for the Study of the Liver (April 2010)
- van Bokhoven MA, van Deursen CT, Swinkels DW; Diagnosis and management of hereditary haemochromatosis. BMJ. 2011 Jan 19;342:c7251. doi: 10.1136/bmj.c7251.
- Adams PC, Barton JC; How I treat hemochromatosis. Blood. 2010 Jul 22;116(3):317-25. Epub 2010 Mar 22.
- Bassett ML, Hickman PE, Dahlstrom JE; The changing role of liver biopsy in diagnosis and management of haemochromatosis. Pathology. 2011 Aug;43(5):433-9.
- Duchini A et al; Hemochromatosis, Medscape, Dec 2011
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.
|Original Author: Dr Colin Tidy||Current Version: Dr Colin Tidy||Peer Reviewer: Dr Hayley Willacy|
|Last Checked: 13/12/2012||Document ID: 4857 Version: 42||© EMIS|