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Lab Manual for UCSF Clinical Laboratories

Lab Manual for SFGH

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Item Value
ClinicalQuestion Does my patient have hemochromatosis?
TestEntryNumber 440
TestCode HHEM
TestName Iron, Transferrin and % Transferrin Saturation Panel, Plasma / Serum
IsThisScreeningTest No
PubMedID 12198660, 21452290
Comment In C282Y homozygous patients, AST levels above the upper limit of normal, together with a ferritin level of >1000 and a platelet count >200 x10^9 /L have been shown to lead to a correct diagnosis of cirrhosis in 77%-90% of patients. The 2011 Practice Guideline by the American Association for the Study of Liver Diseases recommends liver biopsy to stage the degree of liver disease in C282Y homozygotes or compound heterozygotes if liver enzymes (ALT, AST) are elevated or if ferritin is >1000 lg/L.
Sensitivity Unknown
Specificity 50%
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