Iron Overload Flashcards
What is primary iron overload
Long term excess iron absorption with parenchymal overload
What is the main cause of primary iron overload
Hereditary haemochromatosis
What causes hereditary haemochromatosis
Mutations to the HFE gene
What is hereditary haemochromatosis
Decreased hepcidin synthesis and increased iron absorption causing iron accumulation
Causes of secondary iron overload (4)
- transfusions
- thalassaemia
- sideroblastic anaemia
- hypoplastic anaemias
When does hereditary haemochromatosis usually present
Middle age or later
Features of hereditary haemochromatosis (6)
- fatigue
- joint pains / arthritis
- impotence
- cirrhosis
- diabetes
- cardiomyopathy
Main test for hereditary haemochromatosis
Genetic testing
Positive genetic testing for hereditary haemochromatosis
HFE gene mutation
What is the HFE gene mutation
C282Y homozygotes
Management of hereditary haemochromatosis
Weekly venesection
Management of secondary iron overload
Iron chelating agents
Give an example of an iron chelating agent
Desferrioxamine or deferiprone
