Haemochromatosis Flashcards
1
Q
what is haemochromatosis?
A
accumulation of iron within the body
2
Q
normal adult body stores ….. of iron
A
3 - 4g of iron
3
Q
how much iron is absorbed and excreted for males + female?
A
- male : 1mg in/out
- female : 1.5mg in/out
4
Q
signs and symptoms
of haemochromatosis
A
- heat failure
- chronic liver disease
- low labido
- infertility
- fatigue
- amenorrhea
- bronzing of skin
- hypogonadism
5
Q
bronzing of skin
A
- metallic grey skin
- due to iron + melanin in the dermis
- late sign
6
Q
primary classification of haemochromatosis
A
- type 1 - most common - HFE gene
- type 2 - HJE gene
- tpe 3 - transferrin receptor-2 gene
- type 4 - african gene
7
Q
secondary classification of haemochromatosis
A
- excess iron supplements
- excess dietary iron
- alcohol misuse
- multiple blood transfusions
8
Q
phlebotomy
A
- initially, once/twice a week
- removal of 500 ml of blood ( 200-250g of iron )
- continues until serum ferritin is <50g/l
- then, once every 3 months
9
Q
treatment for haemochromatosis
diet
A
- avoid iron pills
- avoid vitamin C
- avoid alcohol
10
Q
why should you avoid vitamin C if you have haemochromatosis?
A
high concentration of vitamin C helps aid body to improve iron absorption
11
Q
haemochromatosis treatment
medication
A
- deforaxamine - parenteral route
- removes 10-20mg per day
- less effective, more costly
