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Haemochromatosis

Published by Bupa's health information team, June 2008.

This factsheet is for people who have haemochromatosis, or who would like information about it.

Haemochromatosis is a chronic condition that causes your body to absorb too much iron. You can be born with genetic haemochromatosis (GH) or you can acquire it later in life, usually the result of long-term blood transfusions for a blood disorder (anaemia).

About haemochromatosis
Symptoms
Complications
Causes
Diagnosis
Treatment
Prevention
Further information
Questions and answers
Related topics
Sources

About haemochromatosis

Iron is an essential mineral in your diet. It plays an important role in making red blood cells which carry oxygen around your body. Small amounts of iron are stored in your liver and bone marrow for essential purposes, such as making red blood cells. You should normally have about three to four grams of iron in your body.

In haemochromatosis, your body absorbs more iron than it needs. When your body absorbs more than five grams of iron, it starts to be deposited in larger amounts than usual in your organs. This happens mainly in the liver, but iron may also be deposited in other organs such as your pancreas, heart, endocrine glands and your joints. This can result in damage which can cause diseases such as cirrhosis of the liver and diabetes.

Haemochromatosis is a chronic condition; this means it lasts a long time and you will need treatment for the rest of your life. The term chronic refers to time, not to how serious a condition is.

Symptoms

The symptoms of haemochromatosis can be quite non-specific, so it's often difficult to diagnose. Symptoms may include:

chronic fatigue, weakness or lethargy
yellowing or bronzing of your skin - your skin may look unusually tanned
pain in your joints, especially in the knuckles and joints of your first two fingers
pain in your stomach or abdomen
loss of sex drive - men may also experience impotence
testicular atrophy in men (testicles shrink in size)
infrequent or no periods, or an early menopause in women (rarely)

It's important to get a diagnosis as early as possible; if left untreated haemochromatosis can cause serious health conditions. If you have any of the symptoms listed or are concerned about haemochromatosis, see your GP.

Complications

When your body absorbs too much iron (over five grams), it begins to deposit it in large quantities in organs around the body - mainly your liver but also your pancreas, heart, endocrine glands and joints. This can cause major tissue damage resulting in serious illnesses such as:

cirrhosis of the liver - scar tissue replaces normal healthy liver tissue and over time prevents the liver from working properly, this may eventually lead to liver cancer
type 2 diabetes - a long-term condition where the body is unable to properly regulate the amount of glucose in the blood
arthritis - inflammation of the joints
heart disease - cardiomyopathy (a disease of the heart muscle), arrhythmia (a disturbance of the heart's normal rhythm) or heart failure

An early diagnosis of haemochromatosis is vital to prevent long-term damage to your health.

Causes

Genetic haemochromatosis (GH)

GH is a genetic disorder; this means it runs in families. It's recognised as the most common genetic illness - according to the British Society of Haematology, one in 300 people of Northern European origin could be at risk of developing haemochromatosis.

Genes contain the instructions for life, and are inherited from our parents. GH is caused by a mutation (defect) of the HFE gene which contains instructions for producing a protein that manages and limits the amount of iron absorbed by the body. Mutation of a gene causes it to function differently - in this case, the body can't control the amount of iron it absorbs.

You inherit two sets of all your genes from your parents: one set from your mother and one set from your father. To develop haemochromatosis, both the HFE genes from your mother and your father must be affected - this is known as a recessive disorder. If you only inherit one mutated HFE gene from your parents, then you will be a carrier of the condition. This means that you won't develop the disease, but you could pass it onto your children if your partner is also a carrier for the condition.

Genetic testing is extremely important for your family if you have haemochromatosis. The chances of members of your family having the condition already or being carriers is quite high.

Illustration to show how haemochromatosis is inherited
How haemochromatosis is inherited

Although you are born with genetic haemochromatosis, your body usually won't have accumulated enough iron to cause symptoms until you are aged between 30 and 40 years. In women, it's usually later after their menopause.

Juvenile haemochromatosis

This is also a genetic disorder, however, it starts at a younger age (usually between 15 and 30) and can be more severe causing extensive organ damage. It's not clear which mutated gene causes juvenile haemochromatosis.

African iron overload

This mainly affects people living in sub-Saharan Africa. It's thought to be caused by drinking large quantities of beer brewed in iron containers (produced in sub-Saharan Africa). More recently a genetic influence has also been found.

Secondary iron overload

Also called secondary haemochromatosis, this is when the body accumulates too much iron from regular long-term blood transfusions. Long-term blood transfusions are often given to treat blood disorders such as aplastic anaemia and thalassaemia major.

Neonatal haemochromatosis

This is a rare condition that affects babies when they are still in the womb. Too much iron builds up in the baby's liver and other organs. The baby usually doesn't survive until birth or dies shortly after. It's not an inherited condition, but the risk of a woman having more babies with neonatal haemochromatosis is high - the reason for this is unclear.

Diagnosis

Early diagnosis of haemochromatosis is crucial to prevent long-term damage to your health. Your doctor will use several different blood tests to make a diagnosis.

Transferrin saturation (TS)

This is a blood test to show how much iron is in your body. If your TS levels are found to be higher than normal, you will be asked to come back for a second fasting blood test. For this test to work, you must not to eat anything from the evening before your test until you have it the next day.

Serum ferritin concentrations

This is a blood test to measure how much iron is being stored in your body. In the early stages of the condition this may not be very high as not much iron has built up. You doctor will use the results of this test and your TS blood test to make a diagnosis.

Genotypic testing

Genotypic testing is used to find out if you have the mutated HFE gene. This test is important to establish the cause of your condition. It can also be used on other members of your family to find out if they have or are carrying the mutated HFE gene.

Liver biopsy

This is when a small sample of tissue is taken from your liver and sent to a laboratory for testing. It's often used to confirm your diagnosis when blood tests have shown your iron levels are high, there are signs of liver disease or the genotypic test is negative. It's usually done under local anaesthetic. This completely blocks feeling from the area and you will stay awake during the procedure.

Your GP may refer you to a specialist doctor for diagnosis and treatment. This may be a haematologist (a doctor who specialises in treating blood disorders), a hepatologist (a doctor who specialises in liver disease) or a gastroenterologist (a doctor specialising in digestive disorders).

Treatment

Venesection

For genetic disorders causing haemochromatosis, the treatment is simple and effective. It involves regularly removing blood from the body to help rid it of excess iron - this is called phlebotomy or more commonly venesection. This is done in an outpatient clinic at the hospital.

To start with, you may need venesection once a week - this will depend on how much iron has built up in your body. The amount of blood taken during each venesection session will vary from person to person. Treatment will continue until your serum ferritin levels have returned to a low normal level; for some people this may take up to two years.

Venesection is not a cure. Once your serum ferritin levels are normal you will need maintenance treatments for the rest of your life to stop iron from accumulating in your body again. You will need to have regular blood tests to check your iron levels and, if there is a build-up, have venesection - usually this will be every three to four months.

Iron chelation therapy

If you have secondary iron overload caused by blood transfusions for a blood disorder, you won't be treated with venesection. Instead you will be given iron chelation therapy in the form of infusions of a drug called desferrioxamine. Once in the body, desferrioxamine works by combining with the excess iron and removing it through your urine and faeces.

Desferrioxamine infusion usually involves inserting a needle under the skin of your stomach or leg which is attached to a small battery-operated infusion pump. It's usually given over a 10 to 12 hour period. You may need five to six infusions a week.

In recent years a new drug called deferasirox (Exjade) has become available that can reduce iron levels in the body. Unlike desferrioxamine, which is given as an infusion and can be painful, this medicine is taken in tablet form.

Liver transplant

This is only rarely used to treat neonatal haemochromatosis if the baby survives until birth.

Prevention

If a genetic disorder has caused your haemochromatosis, it's important that other members of your family are tested for the condition. Knowing you have the HFE gene or are a carrier, means that you can be treated early. If you are treated before any damage to your vital organs has occurred, your life expectancy will be normal.

Further information

The Haemochromatosis Society
0208 449 1363
www.haemochromatosis.org.uk
The British Liver Trust
0800 652 7330
www.britishlivertrust.org.uk