Clinical Signs

Question 1

What are the signs and symptoms of type I haemochromatosis?

Answer 1

Liver - fibrosis & cirrhosis 
Diabetes type I and II 
Heart = cardiomyopathy
Most common: tiredness and lethargy 
Most serious: (above)

Question 2

Why does iron balance break down in haemochromatosis?

Answer 2

Increased amounts of iron absorbed from a diet containing normal amounts of iron.

Question 3

What type of haemochromatosis does a TfR2 mutation confer?

Answer 3

Type 3 –> presents in adulthood.

Question 4

What type of haemochromatosis do HJV mutations confer?

Answer 4

Juvenile (type 2a).

Question 5

What are the three pathways which can induce hepcidin?

Answer 5

IL-6 acting via STAT3 signaling.
BMPs acting via BMPR/SMAD4 pathway
Tf acting via the TfR2/HFE mediated pathway.

Question 6

what study implicated hepcidin in haemochromatosis?

Answer 6

Lancet (2003) - mRNA of HAMP in liver measured in HFE-related hemochromatosis. These patients had relative deficiency in hepcidin.

Question 7

What two factors can lead to iron deficiency?

Answer 7

Use of acid-suppressing medication = proton pump inhibitors (as gastric acid reduces iron).
Damage to intestinal lining e.g. IBD and coeliacs.