Haemochromatosis Flashcards
What is haemochromatosis?
Haemochromatosis is an autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation.
What causes haemochromatosis?
It is caused by the inheritance of mutations in the HFE gene on both copies of chromosome 6.
What is the most useful marker for screening for haemochromatosis in the general population?
Transferrin saturation is considered the most useful marker.
What additional test should be measured when screening for haemochromatosis?
Ferritin should also be measured but is not usually abnormal in the early stages of iron accumulation.
What is recommended for testing family members for haemochromatosis?
Genetic testing for HFE mutation.
What is a typical iron study profile in a patient with haemochromatosis?
Transferrin saturation > 55% in men or > 50% in women, raised ferritin (e.g. > 500 ug/l) and iron, low TIBC.
What further tests are recommended for diagnosing haemochromatosis?
Liver function tests, molecular genetic testing for the C282Y and H63D mutations, MRI to quantify liver and/or cardiac iron, and liver biopsy if suspected hepatic cirrhosis.
What is the first-line treatment for haemochromatosis?
Venesection is the first-line treatment.
How should the adequacy of venesection be monitored?
Transferrin saturation should be kept below 50% and the serum ferritin concentration below 50 ug/l.
What second-line treatment may be used for haemochromatosis?
Desferrioxamine may be used as a second-line treatment.
