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autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation.
caused by inheritance of mutations in the HFE gene on both copies of chromosome 6 (occ no mutation found)
debate about the best investigation to screen for haemochromatosis - suggest:
general population: transferrin saturation (> 55%M > 50%F) (Ferritin ( > 500 ug/l) useful but usually normal in early stages) TIBC
testing family members: genetic testing for HFE mutation
''Diagnostic tests''
molecular genetic testing for the C282Y and H63D mutations
liver biopsy: Perl's stain
''Monitoring adequacy of venesection''
Keep transferrin saturation < 50% and ferritin < 50 ug/l
Joint x-rays characteristically show chondrocalcinosis