Flashcards in Haemochromatosis Deck (6)
what is haemochromatosis?
- autosomal recessive disease
- increased intestinal absorption of iron leads to iron accumulation in tissues
what is the aetiology?
defect in HFE gene
not all who are homozygous will develop the disease
what are the early presentations of haemochromatosis?
asymptomatic until late stages of disease
- erectile dysfunction
- heart problems
what are the late presentations of haemochromatosis?
- bronzed skin
what are the haematinics results?
- Serum ferritin = HIGH (also an acute phase protein)
- Transferrin = LOW (body doesn't want any more iron)
- Transferrin saturation = HIGH
- Total iron binding capacity = LOW