No activity today, make something!
afya Haemochromatosis

Move this tiddler

To:
Drop binaries into your tank here.

20160425222429 Ben  
<<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