Haemochromatosis

Question 1

What chromosome and gene is involved in hereditary haemochromatosis?

Answer 1

HFE gene

Chromosome 6

Question 2

What type of mutation is haemochromatosis?

Answer 2

Autosomal recessive

Question 3

What’s re the symptoms of haemochromatosis?

Answer 3

Chronic tiredness

Joint pain

Pigmentation (bronze/slate-grey)

Hair loss

Erectile dysfunction

Amenorrhoea

Cognitive symptoms (memory/mood disturbances)

Question 4

How is a diagnosis of haemochromatosis made?

Answer 4

Serum ferritin levels

Transferrin saturation

Genetic testing

Liver biopsy with pearls stain

CT abdo

MRI

Question 5

Complications of haemochromatosis?

Answer 5

T1DM

Cirrhosis

Iron deposits in pituitary leading to endocrine problems

Cardiomyopathy

HCC

Hypothyroidism

Chrondocalcinosis/ pseudogout

Question 6

What is the manager of haemochromatosis?

Answer 6

Venesection (removing blood to remove excess iron)

Monitoring serum ferritin

Avoid alcohol

Genetic counselling

Monitoring and treatment of complications