Haemochromatosis

Question 1

What is haemochromatosis?

Answer 1

Iron storage disorder that results in excessive total body iron and deposition of iron in tissues.

Question 2

What gene is haemochromatosis associated with?

Answer 2

Human haemochromatosis protein (HFE) gene on chromosome 6

Question 3

Mechanism of haemochromatosis inheritence?

Answer 3

Autosomal recessive

Question 4

Symptoms of haemochromotosis?

Answer 4

Over age of 40
Presents later in females

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

Question 5

How is haemochromatosis diagnosed?

Answer 5

Serum ferritin

High serum ferritin and high transferrin saturation = high ferritin due to inflammation/NAFLD
If serum ferritin and transferrin saturation are high and there is no apparent inflammation/NAFLD hen genetic testing can be performed.

Question 6

Complications of haemochromatosis?

Answer 6

Type 1 diabetes (iron affects pancreas function)
Liver cirrhosis
Hypogonadism, impotence, amenorrhoea, infertility
Cardiomyopathy
Hepatocellular carcinoma
Hypothyroidism
Chrondocalcinosis/psuedogut

Question 7

Management of haemochromatosis?

Answer 7

Venesection (weekly protocol of removing blood to decrease total iron)
Monitoring serum ferritin
Avoid alcohol
Genetic counselling
Monitoring and treatment of complications