Which laboratory values are elevated in hemochromatosis?

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Last updated: March 20, 2026 • View editorial policy

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Laboratory Values Elevated in Hemochromatosis

The key laboratory values elevated in hemochromatosis are transferrin saturation (TS) and serum ferritin, with TS ≥45% and ferritin above normal being the primary screening markers that should prompt genetic testing. 1

Primary Screening Laboratory Values

Transferrin Saturation (TS)

  • Normal range: 20-50% 1
  • Asymptomatic hemochromatosis patients: 45-100% 1
  • Symptomatic hemochromatosis patients: 80-100% 1
  • Diagnostic threshold: TS ≥45% warrants further evaluation and HFE genetic testing 1
  • In C282Y homozygotes, 84% of men and 73% of women demonstrate elevated transferrin saturation 2

Serum Ferritin

  • Normal range:
    • Men: 20-200 µg/L 1
    • Women: 15-150 µg/L 1
  • Asymptomatic hemochromatosis patients:
    • Men: 150-1000 µg/L 1
    • Women: 120-1000 µg/L 1
  • Symptomatic hemochromatosis patients: 500-6000 µg/L (both sexes) 1
  • In C282Y homozygotes, ferritin >300 µg/L is present in 88% of males and ferritin >200 µg/L in 57% of females 2

Serum Iron

  • Normal range: 60-80 µg/dL 1
  • Asymptomatic hemochromatosis patients: 150-280 µg/dL 1
  • Symptomatic hemochromatosis patients: 180-300 µg/dL 1

Important Clinical Caveats

Serum ferritin has high sensitivity but low specificity - it can be elevated in numerous non-iron overload conditions including inflammatory states, diabetes mellitus, alcohol consumption, hepatocellular necrosis, chronic hepatitis B and C, nonalcoholic fatty liver disease, and malignancy. 3, 1 Therefore, an elevated ferritin without elevated transferrin saturation may be nonspecific and not indicative of hemochromatosis. 1

Serum iron and transferrin saturation do not quantitatively reflect total body iron stores and should not be used as surrogate markers of tissue iron overload. 3

Prognostic Laboratory Values

Ferritin as a Predictor of Cirrhosis

  • Ferritin <1000 µg/L: Accurately predicts absence of cirrhosis 1
  • Ferritin >1000 µg/L with elevated ALT/AST and platelet count <200: Predicts presence of cirrhosis in 80% of C282Y homozygotes 1

Liver Enzymes

  • ALT and AST: May be elevated, particularly in patients with hepatic involvement 1
  • Elevated aminotransferases combined with high ferritin increase likelihood of advanced fibrosis 1

Tissue Iron Measurements (When Biopsy Performed)

Hepatic Iron Concentration

  • Normal: 300-1500 µg/g dry weight (5-27 µmol/g) 1
  • Asymptomatic hemochromatosis: 2000-10,000 µg/g dry weight (36-179 µmol/g) 1
  • Symptomatic hemochromatosis: 8000-30,000 µg/g dry weight (140-550 µmol/g) 1

Hepatic Iron Index

  • Normal: <1.0 1
  • Hemochromatosis: >1.9 1
  • Calculated by dividing hepatic iron concentration (µmol/g) by patient age in years 1
  • Note: The utility of hepatic iron index has diminished with availability of genetic testing 1

Recommended Diagnostic Algorithm

Both TS and ferritin should be obtained together rather than relying on a single test. 1 If either is abnormal (TS ≥45% or ferritin above upper limit of normal), HFE mutation analysis should be performed. 1 This combined approach maximizes sensitivity while maintaining reasonable specificity for detecting clinically significant hemochromatosis. 1

References

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.