Haemochromatosis Flashcards
1
Q
haemochromatosis
A
autosomal recessive condition causing abnormal regulation of iron. accumulation of iron can result
2
Q
signs
A
fatigue erectile dysfunction arthralgia bronze pigmentation diabetes mellitus liver issues
3
Q
investigations
A
bloods:
high transferrin
high ferritin
low TIBC
4
Q
management
A
regular venesection
give desferrioxamine
5
Q
what gene and chromosome is affected
A
HFE gene on chromosome 6
