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Laboratory studies [10] Diagnosis of iron overload [10] [11] ↑ Serum ferritin ≥ 200 ng/mL for premenopausal patients ≥ 300 ng/mL for all other patients ↑ Transferrin saturation (≥ 45%) ↑ Serum iron ↓ Total iron-binding capacity Genetic testing (HFE gene) [10] Indications: unexplained iron overload and/or first-degree relative with hereditary hemochromatosis Findings: Homozygous C282Y, homozygous H63D, or heterozygous C282Y/H63D mutation in the HFE gene confirms the diagnosis
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