Haemochromatosis

Question 1

What is haemochromatosis?

Answer 1

Inherited iron storage disorder that results in excessive total body iron and deposition of iron in tissues and organs

Question 2

1) The majority of cases of haemochromatosis are caused by mutations in what gene?
2) What is this gene important in regulating?
3) What chromosome is this gene located on?
3) What type of inheritance is haemochromatosis?

Answer 2

1) Human haemochromatosis protein
2) Iron metabolism
3) 6
4) Autosomal recessive

Question 3

1) At what age, and why at this stage of life, does haemochromatosis normally present?
2) Why does it normally present later in females?
3) Name 3 symptoms of haemochromatosis

Answer 3

1) 40s - iron buildup has become symptomatic
2) Menstruation acts to regularly eliminate iron from the body
3) Chronic tiredness, joint pain, bronze/slate grey discolouration, hair loss, erectile dysfunction, amenorrhoea, cognitive symptoms (memory and mood disturbance)

Question 4

1) What is the most useful marker when investigating for haemochromatosis?
2) What else can be measured, and name 1 reason why it’s not as useful
3) What is done to confirm diagnosis?

Answer 4

1) Transferrin saturation
2) Serum ferritin - not usually abnormal in the early stages of iron overload and it’s an acute phase reactant therefore it goes up with inflammatory conditions
3) Genetic testing

Question 5

1) What is the 1st line management?
2) What is the 2nd line management?
3) Name another aspect of the management of haemochromatosis

Answer 5

1) Venesection (a weekly protocol of removing blood to decrease total iron)
2) Desferrioxamine - iron chelating agent
3) Monitoring serum ferritin and transferrin saturations, avoid alcohol, genetic counselling, monitoring and treatment of complications

Question 6

Name 3 complications

Answer 6

• Type 1 Diabetes (pancreatic dysfunction)
• Liver Cirrhosis
• Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhea, infertility)
• Cardiomyopathy
• Hepatocellular Carcinoma
• Hypothyroidism
• Chondrocalcinosis / pseudogout (calcium deposits in joints) causing arthritis

Question 7

Comment on the ferritin, total iron binding capacity and the transferrin saturation in haemochromatosis

Answer 7

Ferritin and transferrin saturations high. Total iron binding capacity low