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Haemochromatosis

Haemochromatosis is a condition that causes the body to absorb too much iron from our diet. Iron is found in our haemoglobin enabling oxygen transport around our body. Normally, dietary iron absorption is under careful control, with any transient increase stored in our liver as Ferritin, which is drawn on when needed. However when there is a breakdown in this process, we can see an increase in iron to levels of dangerous excess via our pathology results (Full Blood Count and Iron Studies), and via clinical symptoms. Excess iron causes iron overload, and is known as Haemochromatosis. The most most common reason is a genetic, or inherited cause. We can test for this via the HFE gene test if the initial FBC and Iron studies indicate Haemochromatosis.


Image of two livers - a normal liver and another liver showing too much iron overloading it
Haemochromatosis is when you have too much iron in your body causing issues

Testing for Haemochromatosis


Iron Studies (like below) can provide indications we have iron overload, and depending on lifestyle also the need for Haemochromatosis genetic testing. Ferritin and Transferrin Saturation are the best markers as indicators of iron overload.

Iron Studies Test Name

Upper limit for females

Upper limit for males

Iron (in our blood)

>30 umol/L

>30umol/L

Ferritin (stored iron)

>200ug/L

>300ug/L

Transferrin Saturation (%) (iron transported around body)

>45%

>50%

Table source: Iron Study results indication Haemochromatosis


Haemochromatosis and the HFE Gene

Haemochromatosis predominantly arises from defects in the HFE gene. The two most common mutations that occur on this gene are the C282Y and H63D mutations.


Genetic testing results may be shown by:

HFE Genetic Testing Result

Known as

Risk of developing Haemochromatosis

C282Y - 2 copies

C282Y/ C282Y

Highest risk

C282Y-1 copy, H63D-1 copy

C282Y/H63D

Increased risk

H63D - 2 copies

H63D/ H63D

Slightly increased risk

C282Y-1 copy, S65C-1 copy

C282Y/S65C

No increased risk

C282Y/H63D/S65C-1 copy, and 1 normal gene

Carrier state

No increased risk

Table source: highlighting the varieties of HFE gene mutations possible on testing and associated risk of developing Haemochromatosis.


While the genetic cause of Haemochromatosis is the most common cause, there are other reasons that iron overload may occur in your body. They can include:

  • Excess iron supplementation (dangerous)

  • Age

  • Excess dietary intake of iron

  • Alcohol as it impedes the liver's ability to deal with iron

  • Regular blood transfusions for Thalassaemia major patients may cause iron overload. Thalassaemia is a genetic disorder of red blood cell production. Thalassaemia minor means one thalassaemia gene is inherited while the other is normal, whereas Thalassaemia major is where two inherited thalassaemia genes are inherited, resulting in severe anaemia, and the requirement for repeated transfusions. Iron overload can occur as an unfortunate consequence, with patients presenting with symptoms as per below.


Haemochromatosis Symptom Picture

In Haemochromatosis, as there is impaired ability to get rid of excess iron, it can get stored in our joints, heart, pancreas, brain, and hormonal glands. The symptom picture can look like a lot of other conditions and so may take time to understand what is going on. This is why it is important to have regular, routine pathology tests performed to get an early indication.


Symptoms can include:

  • Fatigue

  • Joint issues - joint pain, arthritis, osteoporosis

  • Abdominal pain

  • Diabetes - excess iron build up in the pancreas can lead to insulin excretion problems

  • Alcoholic and Non-alcoholic fatty liver disease (NAFLD), and Hepatitis B & C

  • Reproductive hormone issues - irregular menstruation, low libido, erectile dysfunction, gynaecomastia (swollen breasts in males)

  • Skin taking on a bronze look

  • Hair loss

  • Heart issues - heart rhythm problems

  • Memory issues

  • Depression, mood swings, impulsiveness, anger problems

  • Hypothyroidism

  • Weight loss


Haemochromatosis Treatment

Iron levels need to be restored to safe levels as soon as possible. Seeing your G.P. and arranging for venesection to remove blood is the primary method of treatment and continue to have regular blood tests to ensure optimal and safe levels of iron. Following a low iron diet then becomes crucial.


If you would like to discuss your pathology results should have you have any concerns regarding your iron status , then please don't hesitate to book in for a consultation.



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