Haemochromatosis

Question 1

What is haemochromatosis?

Answer 1

Haemochromatosis is an **autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation.

It is caused by inheritance of mutations in the HFE gene on both copies of chromosome 6*.

Question 2

What iron study profile results are seen in haemochromatosis?

Answer 2

Ferritin - high
Serum iron - high
Total iron binding capacity - low
Transferrin saturation - high

Question 3

Which investigations are the most helpful for monitoring treatment for haemochromatosis?

Answer 3

Ferritin and transferrin

Question 4

Management?

Answer 4

• Venescetionis the first-line treatment
  
  • monitoring adequacy of venesection:transferrin should be kept below 50% and the serum ferritin concentration below 50 ug/l
• desferrioxaminemay be used second-line