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Haemochromatosis
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<<forEachTiddler where 'tiddler.tags.contains(context.inTiddler.title)' sortBy tiddler.title ascending write '"*[["+tiddler.title+"]]\n"'>> <<tiddler AutoRefresh with: force>> 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
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Haematology