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Haemochromatosis (Test Code 6000)

Collection Method


Turn Around Time

14 Business Days


Haemochromatosis is the most common genetic disorder, affecting about one in every 200 Australians of European origin. It causes the body to absorb too much iron resulting in iron overload. The excess iron is stored in your organs, especially the liver, heart and pancreas. There are other causes of iron overload including frequent blood transfusions for the treatment of thalassaemia and some haemolytic diseases.

Iron is absorbed from the diet through the small intestine and the amount absorbed is determined by the body’s needs. People with hereditary haemochromatosis (HH) absorb more iron than their body needs. As the body does not have a way to increase excretion of the excess iron there is a progressive build-up of the excess iron in tissues and organs. The symptoms of hereditary haemochromatosis occur in adulthood.

Common Conditions:

  • Fatigue
  • Joint pain
  • Arthritis
  • Diabetes
  • Liver cirrhosis
  • Anxiety
  • Loss of libido
  • Heart failiure


Dooley JS. Diagnosis and management of genetic haemochromatosis. Best Pract Res Clin Haematol. 2002;15(2):277-293. doi:10.1016/s1521-6926(02)90006-x


HFE C282Y, H63D,C282Y Hereditary Haemochromatosis gene mutation


DNA sequencing

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