Patient Fact Sheet: Hemochromatosis 

What is hemochromatosis?

Hemochromatosis is an inherited genetic disorder resulting in continued iron absorption from the small intestine, despite normal total body iron. The gene involved in this disorder is called the HFE gene and changes that occur can result in the 2 common mutations (different from normal), which is the C282Y and H63D mutations. 

This is a condition that is inherited from your parents. We all have 2 copies of each gene (one from our mother and one from our father). Hemochromatosis occurs when you have 2 copies of the abnormal C282Y gene (homozygous), one gene inherited from each of your patients. The H63D mutation may be associated with a small risk of developing hemochromatosis.

This is a condition most frequently seen in Northern Europeans. Between 1 in 10 and 1 in 20 people will carry one copy of this abnormal gene (heterozygote), the other gene is normal. 1 in 200-400 people carry 2 copies of the abnormal gene.

Normal serum ferritin in both males and females range from 20- 300mcg/l. Whereas people with hemochromatosis can have high iron levels with serum ferritin levels > 1000 mcg/l/.

What are the symptoms?

The body requires iron to function, and is the one of the key ingredients for the production of the red blood cells. The body regulates the amount of iron very closely and would regulate absorption from the intestines based on need. The body loses iron through bleeding i.e., blood loss from the bowel and/or menstruation (in females). Too much iron in the body can lead to deposition of iron in major organs including the heart, liver, pancreas (organ that controls insulin production), pituitary gland (hormone gland in the base of the brain), the skin and joints. Ferritin of >1000mcg/L is associated with cirrhosis.

Common symptoms include:

• Non-specific symptoms: Lethargy, fatigue, weight loss
• Organ related symptoms:
  • Heart: irregular heart rhythm, shortness of breath (heart failure)
  • Pancreas: diabetes
  • Joint pains
  • Pituitary gland: loss of libido, cessation of periods (in young females)
  • Skin: bronze discolouration of skin.

How is it diagnosed?

Hemochromatosis is diagnosed by a blood test looking at your genes (molecular studies).

If you have fasting iron studies that show elevated levels as below, your doctor should request this test.

• Serum ferritin > 200 mcg/L (females).
• Serum ferritin > 300 mcg/L (males).
• Transferrin saturation > 45%

How is it treated?

Once the diagnosis is confirmed by molecular studies, you will need to have the excess iron removed from your body the prevent the deposition in the important organs as mentioned above. This is done by bloodletting (venesections) as your blood contains a large amount of iron. The frequency of venesections will depend on how high your iron levels are and we typically aim to remove 500 mls of blood at a time. Some people may initially need more frequent venesections at the start – even weekly if the iron levels are quiet high. This can be reduced once the iron levels are low i.e., every 3-4 months. 

Venesections can be done at the Australian Red Cross Blood service (ARCBS), but you will need to full fill the criteria for regular blood donors to be able to use this service. You should ideally be referred to a haematologist or a gastroenterologist. It is recommended that you reduce your intake of foods high in iron i.e, red meat, reduce alcohol consumption and maintain a low cholesterol to reduce damage to the liver.

It is also important to do blood tests at least yearly (more frequently if there are abnormalities) and USS particularly of the liver to determine if there has been any damage to the organs from the excess iron.

Is Hemochromatosis a temporary condition or will I have it for life?

Yes, this is a condition that you will have for life. This condition is very treatable and should not stop you from having a normal life.

Should my family be screened for Hemochromatosis?

Screening is warranted for all first-degree relatives of patients who have two copies of the C282Y mutation (homozygous) and those who have 1 abnormal copy of C282Y together with 1 copy of H63D mutation (compound heterozygote).