4.3 Haemachromatosis Flashcards
1
Q
What is ferritin?
A
Iron storage protein
2
Q
What is hepcidin?
A
Iron regulatory hormone which will negatively regulate iron absorption, iron transport out of macrophages and iron transport across the placenta
3
Q
What causes hereditary heamohromatosis?
A
HFE on chromosome 6 mutation either C282Y or H63D
4
Q
What is the key pathogenesis of haemochromatosis?
A
Insufficient production of hepcidin relative to iron levels
5
Q
How do you test for haemochromatosis?
A
Increased transferrin and increased transferrin saturation
