Haemochromatosis

Question 1

Haemachromatosis

Answer 1

autosomal recessive disease
mutation in HFE gene

increased absorption of dietary iron

often diagnosed prior to symptoms on routine blood testing

end organ damage is uncommon due to early treatment

diagnosed with high transferrin saturation

risk of eating raw seafood due to infections that flourish in iron overload

treatment
phlebotomy
iron chelators

Question 2

Iron chelators

Answer 2

deferoxamine
deferipone
deferasirox
binds iron, allows for excretion