What is it?
Hemochromatosis is the most common genetic condition in Australia, affecting 1 in 200 people. The gene is the HFE gene. Although some people will have the genes they will have no adverse symptoms, whilst others will have many complications. The reason for this is unknown. Genes involved are HFE C282Y and H63D.
There are a number of reasons apart from hemochromatosis that can lead to increased iron levels and abnormal liver function. These include hepatitis B infection, hepatitis C infection, alcoholic liver disease and fatty liver (also called Non-Alcoholic Fatty Liver Disease or NAFLD).
Iron levels Hemochromatosis
Abnormal range for Females Males
Serum Iron Above 30 umol/L Above 30 umol/L
Serum Ferritin (SF) Above 200 mcg/L Above 300 mcg/L
Transferrin Sat (TS%) Above 45% Above 50%
umol/L = micromoles per litre and mcg/L = micrograms p
Factors that Affect Iron Levels (+) increase (-) decrease
+ a person’s age (increased age provides a longer time to develop iron overload)
+ the amount of iron in a person’s diet
+ the amount of iron a person takes in vitamin pills and medications
+ the amount of alcohol a person drinks
+ unidentified other factors including other genes
– the number of times a person has donated blood
– bleeding for any reason such as accidents and operations
– menstruating women, the amount of blood lost in their periods
– number of children (pregnancy uses up stored iron)
– unidentified other factors including other genes
Symptoms of Hemochromatosis
Generally symptoms develop as iron levels increase. However, some people can have high levels of stored iron with no symptoms. The absence of symptoms. The absence of symptoms does not necessarily indicate that there is no significant body tissue damage occurring.
Fatigue, weakness, lethargy, apathy, weight loss, abdominal pain and joint aches.
Symptoms of higher levels of iron overload in certain organs
Iron overload in the liver causes fibrosis, which generally repairs when iron stores are reduced. Higher levels of iron lead to cirrhosis (irreversible scarring and the death of liver cells).
- Pain in the liver (under your right ribcage) due to liver damage
- Enlarged liver, which doctors call hepatomegaly
- Fatigue and weakness
- Jaundice (yellowness of the skin and whites of the eyes)
- Reduced body hair, itching, easy bruising
In the most serious cases iron overload leads to liver cancer.
Iron overload in the heart leads to:
- Irregular heartbeat or palpitations due to heart muscle damage
- Shortness of breath, breathlessness with physical activity
- Swollen ankles
In the most serious cases iron overload leads to heart failure.
Iron overload in the pancreas causes diabetes. The symptoms of this are:
- Increased need to urinate
- Skin infections that don’t heal well
- Blurry vision
- Always feeling hungry, weight gain or weight loss
- Diabetes, if untreated, may cause severe illness including blindness, kidney failure, heart attack and death.
- Hemochromatosis is associated with arthritis. The most commonly affected joints are the hands, wrists, shoulders, hips, knees and ankles.
- Iron overload may cause grey or bronze discolouration of the skin.
- Iron overload may cause:
- In women, irregular periods, early menopause, loss of libido
- In men, impotence (inability to get or maintain an erection), loss of libido, shrinking testicles (which doctors call testicular atrophy), development of man boobs (which doctors call gynaecomastia).