Haemochromatosis

Question 1

define Haemochromatosis?

Answer 1

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

Question 2

what is the genetic nature of Haemochromatosis?

Answer 2

● Autosomal recessive

● Caused be a defect in the HFE gene

Question 3

epidemiology of haemochromatosis?

Answer 3

● RARE
● Common in those of European descent.
● More frequent in middle aged men

Question 4

what are the early symptoms of haemochromatosis?

Answer 4

o Fatigue
o Weakness
o Arthralgia
o Erectile dysfunction

Question 5

what are the later symptoms of haemochromatosis?

Answer 5

o	Bronze pigmentation  
o	Diabetes mellitus 
o	Liver issues: chronic liver disease, hepatomegaly, cirrhosis, hepatocellular deposition. 
o	Cardiac failure 
o	Hypogonadism 
o	Arthritis

Question 6

what investigations are best for the general population and which investigation is best for family members?

Answer 6

● General population: Transferrin saturation and ferritin and TIBC

● Family members genetic testing for HFE mutation.

Question 7

what does a typical iron profile study look in a person with haemochromatosis?

Answer 7

o Raised transferrin saturation
o Raised ferritin and iron
o Low TIBC

Question 8

tests are diagnostic for haemochromatosis?

Answer 8

genetic testing and liver biopsy