Haemochromatosis Flashcards
What is haemochromatosis?
Iron storage disorder: - excessive total body iron - deposition of iron in tissues.
What causes haemochromatosis?
Normally a gene mutation: - Human haemochromatosis protein gene (HFE gene) - Chromosome 6
What is the inheritance pattern of haemochromatosis?
Autosomal recessive
When does haemochromatosis usually present?
After 40 years old
Why does haemochromatosis usually present later in women?
Menstruation causes a loss of iron with the blood loss
How does haemochromatosis present?
Which bloods are used for haemochromatosis diagnosed?
- Serum ferritin
- Transferrin saturation
- Genetic testing (usually if a cause is needed)
Why is haemochromatosis raised?
Acute phase reactant (high in inflammation)
What does a high ferritin saturation mean?
Iron overload (indicates haemochromatosis)
What should you do if ferritin saturation is high?
Genetic testing (HLE Gene)
What does a liver biopsy show?
Iron deposit in parenchymal cells
What stain is used in liver biopsy for haemochromatosis?
Pearl Stain
How is MRI used for haemochromatosis?
Visualise the iron deposits in the liver and the heart
What are the complications of haemochromatosis?
