Haemochromatosis

Haemochromatosis is a lifelong disorder involving the excessive absorption and inappropriate storage of iron.

Symptoms from lethargy to more serious health problems may become evident as a person ages. Treatment includes regular removal of blood because much of the body's iron is contained in red blood cells.

Haemochromatosis has a genetic cause and is considered to be the most common genetic disease in the world. The disorder occurs most commonly in New Zealanders of Celtic, Anglo and Northern European descent. In New Zealand approximately 1 person in every 200 has the condition.

Haemochromatosis occurs in men 2- to 3-times more often than in women. It usually becomes apparent after the age of 40 years in men and age 50 years in women. The appearance of haemochromatosis occurs later in women because menstruation causes blood loss, which increases iron removal.

General information

Iron is a mineral that is essential for life. It binds with haemoglobin, a molecule in the blood, to transport oxygen from the lungs to all the tissues of the body.

During the digestion of food the body absorbs iron through the intestines (bowels). In people without haemochromatosis the body only absorbs as much iron as it needs, with the rest being excreted by the body. However, in people with haemochromatosis, absorption is uncontrolled and the body absorbs excessive amounts of iron.

The excess iron is unable to be utilised by the body and is deposited in body organs such as the liver, heart, pancreas, and kidneys. This excess iron is toxic to the organs and cause damage over time.

The condition is also known as iron overload syndrome, inherited iron overload disease, and bronze diabetes.

Other causes of iron overload include multiple blood transfusions, chronic hepatitis C infection, alcoholic liver disease and various haematological (blood) disorders.

Signs and symptoms

Haemochromatosis often displays no symptoms. But, as a person ages, and iron accumulates, some signs and symptoms may become evident. These may include:

• Tiredness/fatigue/lethargy
• Abdominal discomfort
• Joint pain
• Low sex drive
• A feeling of being generally unwell.

These symptoms may not be present at all, or may be attributed to other health problems, which means that haemochromatosis can go unrecognised for some time. As the condition progresses, more serious problems may occur including:

• Enlarged liver in more than 95% of patients, often accompanied by chronic liver disease (cirrhosis) and liver failure
• Diabetes mellitus, often requiring insulin therapy
• Cardiomyopathy (disease of the heart muscle)
• Reproductive problems due to erectile dysfunction (impotence) and loss of sex drive
• Skin pigmentation — many with the condition develop a "bronzed" or grey complexion.

People with haemochromatosis may develop one or more of the above symptoms over a period of time as iron slowly accumulates and deposits in the body's organs. Often the disease is not diagnosed until routine blood tests show elevated blood iron levels.

Causes

Haemochromatosis is caused by a mutation in a gene that controls the amount of iron that the body absorbs from food. Discovered in 1996, the gene is known as the HFE gene. It is a recessive gene, which means that a person with haemochromatosis must have received it from both parents and will have two copies of the gene. A carrier will have one copy of the gene but not have the disease. For example:

If both parents have haemochromatosis then they both have two copies of the gene. All their children will have haemochromatosis.

If both parents are carriers then they both have one copy of the gene. There is a one in four chance of a child having haemochromatosis, two chances in four that they will be carriers and one chance in four that they will neither have haemochromatosis nor be a carrier.

If one parent has haemochromatosis (ie: has two copies of the gene) and the other parent is a carrier (ie, has one copy of the gene), the children will have haemochromatosis or be carriers for the condition.

If one parent has haemochromatosis (ie, has two copies of the gene) and the other parent does not have a copy of the gene, then all the children will be carriers, but will not have the condition.

Diagnosis

Early diagnosis is vital to prevent organ damage. However, as the condition can take years to become apparent, and symptoms mimic other conditions, diagnosis can be difficult.

If haemochromatosis is suspected the doctor will take a full medical history, including any family history of haemochromatosis, and will discuss symptoms.

The diagnosis can usually be confirmed by blood tests. A blood sample is taken to check transferrin saturation (how much iron is in the blood) and serum ferritin levels (how much iron is stored).

The normal iron saturation level is 10–50% in males and 10–45% in females. Normal serum ferritin levels are 20–300 µg/L (micrograms per litre) for an adult male and 10–200 µg/L for an adult female.

If the results of these tests are above the normal range, they are often repeated to double check the results. If confirmed, and other causes of iron overload have been ruled out, genetic testing for haemochromatosis will be requested.

Blood tests to assess liver function will be performed. If they are abnormal, a liver biopsy may be recommended to check for liver damage. Additionally, x-rays and specialised scans may be necessary to assess whether damage has occurred in other organs.

Once a diagnosis of haemochromatosis has been made, it is usually recommended that close blood relatives (siblings, children, parents) are screened for the condition. Whilst haemochromatosis cannot be prevented, early diagnosis and treatment can prevent the development of symptoms and long-term consequences of the condition.

Treatment

Treatment for haemochromatosis is lifelong and involves the removal of excess iron. This is done by removing blood in a process similar to blood donation called therapeutic venesection or phlebotomy. Blood is removed at weekly sessions until the ferritin level is below approximately 50µg/L and transferrin saturation is less than 50%. After this is achieved, blood is taken as often as necessary to keep ferritin at this level.

Regular venesection may not be possible in some people, eg: those with anaemia (low levels of red blood cells) or coronary heart disease. In these cases, chelation therapy might be recommended, which involves taking a medication to remove excess iron. The medication, or chelating agent, binds excess iron which is then expelled via the urine or stools.

If organ damage occurred prior to the diagnosis of haemochromatosis, treatments aimed at repairing the damaged organ will be necessary. If permanent and severe damage has occurred, an organ transplant may be required.

General lifestyle guidelines for people with haemochromatosis include:

• Avoiding excessive red meat and iron-rich foods such as liver and other offal
• Avoiding alcohol
• Avoiding vitamin supplements containing vitamin C and iron
• Not consuming raw shellfish
• Eating a balanced diet
• Drinking tea or coffee with iron-rich meals as the absorption of dietary iron can be impaired by tea and coffee.

Further support

For further information and support please contact your doctor or practice nurse. Leukaemia & Blood Cancer New Zealand (LBC) can offer information and support about haemochromatosis:

Leukaemia and Blood Cancer NZ

Freephone: 0800 15 10 15

Email: [email protected]

Web page: www.leukaemia.org.nz.

References

Mayo Clinic (2020). Hemochromatosis (Web Page). Rochester, NY: Mayo Foundation for Medical Education and Research. https://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/syc-20351443 [Accessed: 16/07/20]
Ministry of Health (2018). Iron overload (haemochromatosis) (Web Page). Wellington: New Zealand Government Ministry of Health. https://www.health.govt.nz/your-health/conditions-and-treatments/diseases-and-illnesses/iron-overload-haemochromatosis [Accessed: 16/07/20]
Leukaemia & Blood Cancer New Zealand (2019). Haemochromatosis — A fact sheet for patients, families & whanau (PDF Booklet). Auckland: Leukaemia & Blood Cancer New Zealand. https://www.leukaemia.org.nz/content/uploads/2019/05/Haemochromatosis.pdf
NZ Blood (2008). Haemochromatosis information (PDF Leaflet). Auckland: New Zealand Blood Service. https://www.nzblood.co.nz/assets/Transfusion-Medicine/PDFs/111I026.pdf

Last Reviewed – July 2020

Go to our Medical Library Index Page to find information on other medical conditions.