Haemochromatosis Flashcards
Describe genetic changes in haemochromatosis?
An autosomal recessive mutation of HFE gene on chromsome 6
Put simply, what is haemochromatosis?
Excess body iron (Fe)
Why are women less likely to develop haemochromatosis?
Iron loss from mentstruation
What group of people are most likely to have haemochromatosis?
Males, 50 y/o
What molecule is responsible for taking up Fe?
Transferrin-1
What protein regulates iron homeostasis?
Hepcidin
In haemochromatosis, what happens?
There is excess Fe uptake by transferrin-1 and decreased hepcidin synthesis so impaired homeostasis of iron
What are the implications of haemochromatosis?
Fe accumulation causing fibrosis of organs, particularly liver.
Also, pancreas, kidney, skin, heart, anterior pituitary.
What is the normal range of total body iron?
3-4g
What is the typical range of total body iron in haemochromatosis?
20-30g
What are symptoms of haemochromatosis?
Fatigue
Joint pain
Hypogonadism (due to anterior pituitary damage)
Skin turns slate grey or bronze colour
Liver cirrhosis symptoms
Osteoporosis
Heart failure
What is the triad for gross Fe overload?
Bronze statue skin
Hepatomegaly
T2DM
How is haemochromatosis diagnosed?
High serum Fe
High transferrin saturation
High ferritin
Low TIBC (total iron-binding capacity, as doesn’t want to bind to more Fe)
Genetic test: change in HFE gene
Liver biopsy: asses degree of liver damage with prussian blue stain)
What is first line treatment for haemochromatosis?
Venesection
(if contraindicated give desferrioxamine - chelation therapy)
What advice may be given to patient with haemochromatosis?
Have a low iron diet
Avoid fruits
Lifestyle changes
