How do you make the diagnosis of hereditary hemochromatosis (HH)?
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How do you make the diagnosis of hereditary hemochromatosis (HH)? HFE genotyping is 99% to 100% specific for the diagnosis of HH and is an excellent test for ruling in the disease (SOR: B, systematic review of case control trials). A transferrin saturation (TS) of ≥45% is 98% sensitive and makes a good initial test to rule out HH (SOR: B, cross-sectional studies). The American Association for the Study of Liver Diseases recommends an initial evaluation with both a TS and a serum ferritin (SF), using the cutoff leves >300 mcg/L in men or >200 mcg/L in women (SOR: C, expert opinion).
Evidence-based practice 17, no. 10 (2014): E13-E14