Hereditary haemochromatosis

Question 1

pain in the joints of his hands that has gradually developed over 2 months + he has also been feeling more tired than usual + having erectile difficulties + passing urine more frequently than normal + bronzed skin

Answer 1

Hereditary Haemochromatosis

Question 2

Early signs of haemochromatosis are….

Answer 2

fatigue, erectile dysfunction and arthralgia

Question 3

What specific investigation should be considered for this patient’s presentation of haemochromatosis?

Answer 3

LFTs and Iron Studies

Question 4

What is haemochromostosis, and is it autosomal recessive or autosomnal dominant?

Answer 4

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

Question 5

What causes haemachromatosis?

Answer 5

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