Haemochromatosis

Question 1

What is haemochromatosis?

Answer 1

Iron storage disorder - excess iron is deposited in the tissues

Question 2

The majority of cases of haemochromatosis relate to mutations in the (…?) gene

This mutation is inherited in a (…?) pattern

Answer 2

HFE gene

Autosomal recessive

Question 3

At what age does haemochromatosis typically present?

Answer 3

After 40 years old

Question 4

Describe the symptoms of haemochromatosis

Answer 4

• Fatigue
• Joint pain
• Hyperpigmentation of the skin
• Cognitive symptoms (memory/mood)

Question 5

Which blood tests can be used to screen for hemochromatosis?

Answer 5

Serum ferritin PLUS transferrin saturation (both high)

Question 6

What used to be the gold standard diagnostic investigation for haemochromatosis? What has it been replaced by?

Answer 6

Liver biopsy with Perl’s stain to assess the iron concentration in the liver parenchymal cells

This has now been replaced by genetic testing

Question 7

Which type of scan can give detailed imaging of iron deposits, e.g. in the liver/heart

Answer 7

MRI

Question 8

Describe the management of haemochromatosis

Answer 8

Venesection