Hereditary Haemochromatosis
Our body absorbs iron from the food we eat. This iron is then used by our blood to create hemoglobin – a substance that allows red blood cells to transport oxygen around the body. Usually, any excess iron that our body absorbs is inconsequential and can be safely stored in our organs.
Hereditary haemochromatosis is a genetic condition that causes the body to absorb more iron than it needs. Our bodies continue to store the iron however over time the extra iron causes haemochromatosis long term effects through damage to our organs – usually our heart, pancreas, liver, skin and our joints.
Symptoms
While you are born with the haemochromatosis gene mutation, often haemochromatosis symptoms do not appear until later life; over 40 for men, and even later for women – often not until they are over 60 and have stopped menstruating.
Although signs of hereditary haemochromatosis may not present until your middle age, your body has likely been absorbing excess iron for some time leading to haemochromatosis symptoms.
If you have haemochromatosis you may never develop symptoms. If they do present, hereditary haemochromatosis symptoms are similar to other common ailments so they are sometimes misdiagnosed. Ideally, someone with haemochromatosis is diagnosed early in life so that their condition can be managed before their high iron levels cause haemochromatosis long term effects.
If you do have early signs of hereditary haemochromatosis they may present as:
- Fatigue
- Joint pain – particularly in your fingers
- Unexplained weight loss
- Abdominal pain
- Loss of sex drive
- Impotence
Haemochromatosis long term effects include:
- Heart failure
- Liver failure or liver cirrhosis
- Liver cancer
- Skin discoloration or darkening
- Arthritis
Causes and Risk Factors
The most common type of haemochromatosis is an inherited genetic disorder. Hereditary haemochromatosis is usually caused by mutation in the HFE gene – the gene that controls how much iron your body absorbs.
The disorder develops if they have inherited the haemochromatosis gene mutation from both parents. If you inherit the haemochromatosis gene from only one parent, then you are considered a carrier.
As a carrier, if you have children, you can pass this altered haemochromatosis gene on to them. If the other parent is also a carrier of the altered haemochromatosis gene, they are likely to develop the disease.
While hereditary haemochromatosis is the most common type, there are rarer forms of the condition; juvenile haemochromatosis, neonatal haemochromatosis and secondary haemochromatosis.
How is hereditary haemochromatosis diagnosed?
Whether or not you have signs of hereditary haemochromatosis, your GP can start the process of diagnosing hereditary haemochromatosis through the tests they run during a regular check-up.
If your standard lab test results return signs of raised iron levels, your GP will prescribe more specific haemochromatosis tests, regardless of whether or not you have haemochromatosis symptoms. These tests may include a liver function test, an MRI or a genetic test to look for changes in your genes.
At the Moonee Valley Specialist Centre, we offer comprehensive liver scans that are non-invasive and are run by Registered Nurse Nicole Starbuck-Connelly and supported by Dr. Nathan Connelly, a leading and highly respected liver specialist (hepatologist) and gastroenterologist.
The results will be available to you immediately, and Nicole will be able to discuss your next steps.
While we strongly advise to continue with your regular GP checkups, you are able to access our liver scans without a GP referral.
You should also test for hereditary haemochromatosis if there is any family history of the condition – no matter how distant.
Treatment
To reduce the symptoms of hereditary haemochromatosis, you need to reduce the amount of iron stored by your body.
Although your body regularly uses iron to create red blood cells, hereditary haemochromatosis means that you absorb more iron than you need to create these new cells, and your body has no way to release this excess iron.
The most common haemochromatosis treatment is the removal of blood from your body in a controlled way – this minor procedure is called a venesection and is very similar to regular blood donations.
After the procedure, your body will set to work replacing the lost blood – in the same way it does after you donate blood or menstruate. This process uses the excess iron stored in your organs, thereby reducing your iron levels and mitigating any harm that high iron levels could do to your organs.
A standard venesection removes 500ml of blood, and may need to be repeated once or twice a week in the initial stages of haemochromatosis treatment. Once your iron levels are back to normal the treatment schedule can be reduced to once every two or three months, but will depend on how quickly your body builds back its iron stores.
In rare cases, a venesection is not a haemochromatosis treatment option. Instead, medication called iron chelators are administered to remove stored iron from your organs.
How Moonee Valley Specialist Centre can help
Early diagnosis of haemochromatosis is the best way to manage the condition – if you have any signs of hereditary haemochromatosis or a family history of the condition we’d recommend booking an appointment with your GP for a check-up.
Another way to identify if you have haemochromatosis is through a liver scan with us at the Moonee Valley Specialist Centre. You can make an appointment for a liver scan at our clinic without a GP referral.
You can make an appointment online or give us a call on 03 9372 0372.
*All information is general in nature and is not intended to be a substitute for professional medical advice.
