Haemochromotosis

Question 1

What is haemachromatosis?

Answer 1

• Haemochromatosis is an iron storage disorder that results in excessive total body iron and deposition of iron in tissues.

Question 2

What gene is affected in haemochromotosis and what chromosome is it found on?

Answer 2

HFE gene
Chromosome 6

Question 3

What type of mutation is found in haemochromotosis? E.g. dominant/recessive

Answer 3

Autosomal recessive

Question 4

When does haemochromotosis usually present?

Answer 4

After age of 40
Later in females as menstruation regularly eliminates iron from the body

Question 5

What are the symptoms of haemochromotosis? (7)

Answer 5

○ Chronic tiredness
○ Joint pain
○ Pigmentation (bronze / slate-grey discolouration)
○ Hair loss
○ Erectile dysfunction
○ Amenorrhoea
○ Cognitive symptoms (memory and mood disturbance)

Question 6

Why is ferritin sometimes an unreliable marker?

Answer 6

It is an acute phase reactant so it goes up in inflammatory conditions e.g. infection

Question 7

What is seen on blood tests in haemochromotosis?

Answer 7

Raised serum ferritin
Raised transferrin saturation

Question 8

What stain is used with liver biopsy in haemochromotosis? What does it do?

Answer 8

Perl’s stain
Establishes iron conc in the parenchyma cells

Question 9

What test can be used to see iron deposits in the heart in haemochromotosis?

Answer 9

MRI

Question 10

What are the complications of haemochromotosis? (7)

Answer 10

• Type 1 Diabetes (iron affects the functioning of the pancreas)
• Liver Cirrhosis
• Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhea, infertility)
• Cardiomyopathy (iron deposits in the heart)
• Hepatocellular Carcinoma
• Hypothyroidism (iron deposits in the thyroid)
• Chrondocalcinosis / pseudogout (calcium deposits in joints) causing arthritis

Question 11

What is the first line management of haemochromotosis?

Answer 11

Venesection

Question 12

What is venesection?

Answer 12

Weekly protocol of removing blood to decrease total iron

Question 13

What are the management options in haemochromotosis? (6)

Answer 13

• Venesection = a weekly protocol of removing blood to decrease total iron
• Iron chelation therapy
• Monitoring serum ferritin
• Avoid alcohol
• Genetic counselling
• Monitoring and treatment of complications