What is haemochromatosis?
Haemochromatosis is a genetically inherited disorder involving excessive iron absorption and inappropriate storage of iron.
Iron accumulation takes time to occur and if stored iron levels become too high, it can cause damage to major organs, especially the liver, but also the heart, pancreas, joints and the organs that produce hormones. Early diagnosis and treatment can prevent these complications and people with no organ damage can expect to have a normal life span.
Signs and symptoms
Many people with haemochromatosis have no symptoms, and the condition is detected by testing the serum ferritin through a routine blood test.
Symptoms of haemochromatosis do not appear in any particular order and may be different from person to person. As iron accumulates over the years, variable signs and symptoms may appear, such as:
- Tiredness/fatigue
- Weakness
- Joint or abdominal pain
- Low libido (loss of sex drive)
- General malaise (discomfort or physical unease)
- Skin/complexion may darken (associated with high ferritin levels).
These symptoms are not specific to haemochromatosis, and may not be present at all, the condition may go unrecognised for some time.
For many people, a check-up with their GP often reveals the first indication of haemochromatosis through routine blood tests. If the tissue iron level reaches a very high level, there can be a risk of serious problems occurring. Symptoms of high levels of iron overload in organs include:
- Liver: Enlarged liver and/or pain in the area of the liver (under the right rib cage), jaundice (yellow colour of the skin and/or eyes).
- Heart: Irregular heart beat or palpitations, shortness of breath, fatigue and/or swollen ankles.
- Pancreas: increased thirst, need to urinate, tiredness, skin infections that don’t heal, blurry vision, dizziness, changes in weight and/or always feeling hungry.
- Joints: Arthritis, most commonly in the joints of the hands, feet, wrists, shoulders, knees, ankles and hips.
- Sex organs in women: Irregular periods, early menopause, loss of libido (sex drive).
- Sex organs in men: Loss of libido (low sex drive), shrinking testicles, enlarged breast tissue and/or inability to get or maintain an erection (impotence).
Causes
Haemochromatosis is the most common genetic disease in people of European ancestry. It is caused by gene faults called mutations. To be diagnosed with haemochromatosis you have to have inherited the same faulty gene from each parent. The diagram below shows how a person can inherit haemochromatosis if their parents are both carriers.
Mutations in a number of different genes can cause haemochromatosis, however most European people with the condition have a mutation in a gene termed the HFE gene.
In New Zealand, 1 in 200 people have haemochromatosis.
If a person only inherits one HFE gene they are a carrier, and do not have the condition itself, but possess the ability to pass it onto their offspring.
Diagnosis
Haemochromatosis is diagnosed through blood tests that check the iron saturation (how much iron is attached to the transport protein in the blood) and the serum ferritin levels (how much iron is stored).
A blood test to analyse liver function is also often undertaken to assess for any indication of liver damage or abnormalities. This blood test is called a liver function test (LFT).
Genetic testing or genotyping of haemochromatosis can be done by a blood test. This will reveal if a person has haemochromatosis or is a carrier. It can also identify which genetic subtype they have.
Once a diagnosis has been made, it is usually recommended that close blood relatives (siblings, children, parents) are screened for the condition.
Treatment
Not everyone with haemochromatosis will need treatment. However, once diagnosed, you are likely to need regular blood tests. If you have a high ferritin level, then you may need treatment to prevent organ damage.
Treatment for haemochromatosis is called therapeutic venesection or phlebotomy (taking blood) with the aim of lowering your serum ferritin level.
If you are having venesections you will most likely go to the nearest blood centre or hospital and have an intravenous (IV) line inserted. Blood is then removed from your vein into a bag or bottle (similar to donating a unit of blood).
The frequency of venesection can vary greatly from person to person. Typically when a person is newly diagnosed they require more regular venesection this could be anywhere from weekly, fortnightly to monthly, depending on the level of iron that they presented with. This intensive phase is to deplete the bodies’ iron stores to an acceptable level. Target parameters again can vary depending on several factors and will be determined by the treating doctor.
There is no cure for haemochromatosis, but treatments can keep the iron overload under control. This treatment is an effective and economical way of removing iron from the body.
Therapeutic venesection in New Zealand is carried out in a variety of settings, including: hospital outpatient clinics, regional blood testing laboratories, the New Zealand Blood Service & occasionally in some GP practices.
Tips for therapeutic venesection
- Drink plenty of water the day before, and on the day of the venesection to ensure you are well hydrated. This aids recovery and prevents your blood pressure dropping.
- Do not have a venesection while fasting, or if you are unwell.
- Listen to your body and take time to rest after the procedure.
- Protect the arm used for venesection and avoid heavy lifting for 24 hours following venesection.
- Ask them to use the arm that you don’t use for writing and other tasks. If you have any worries or questions, bring these up with your nurse. They will do their best to reassure and explain things to you. Ask prior to your appointment about bringing a support person with you.
Dietary management recommendations for people living with haemochromatosis
- Avoid iron supplements
- Consume red meats in moderation
- Consume alcohol in moderation. Any alcohol consumed can increase liver damage that occurs with severe iron overload. If you have liver damage you should not consume any alcohol.
- Limit food or supplements that are high in vitamin C with your meals as this will enhance iron absorption.
- If your serum ferritin is very high, do not consume raw seafood (a bacteria called vibrio vulnificus can cause rapid and life-threatening septicaemia. It is rare but not unknown in New Zealand waters).
- If you have fatty liver disease or diabetes, seek advice on specific dietary restrictions.
