Management of Elevated Red Blood Cell Count, Hemoglobin, Hematocrit, and Ferritin
Diagnostic Approach
- Measure transferrin saturation and serum ferritin to evaluate iron overload, as recommended by the European Association for the Study of the Liver, with typical transferrin saturation >50% and ferritin markedly elevated in hemochromatosis 1, 2
- Consider genetic testing for HFE mutations, such as C282Y homozygosity, which is diagnostic for hemochromatosis, as suggested by the American Association for the Study of Liver Diseases 1, 2
Management of Hereditary Hemochromatosis
- Therapeutic phlebotomy is the cornerstone of treatment, with the goal of removing excess iron, as recommended by the European Association for the Study of the Liver, with a target serum ferritin of 50-100 μg/L 1, 2, 3
- During the induction phase, remove 400-500 mL of blood weekly or every 2 weeks, and monitor hemoglobin before each phlebotomy session, as suggested by the American Association for the Study of Liver Diseases 1, 3, 6
- In the maintenance phase, phlebotomy is performed every 1-4 months to maintain ferritin 50-100 μg/L and transferrin saturation <60%, as recommended by the European Association for the Study of the Liver 1, 3
- Dietary and lifestyle modifications include avoiding iron supplementation and iron-fortified foods, avoiding supplemental vitamin C, limiting red meat consumption, and restricting alcohol intake, as suggested by the American Association for the Study of Liver Diseases 1, 2, 6
Monitoring and Special Considerations
- Monitor ferritin every 6 months during the maintenance phase, and investigate unexpected changes in ferritin or transferrin saturation, as recommended by the European Association for the Study of the Liver 1, 3
- Check hemoglobin at each phlebotomy session, and adjust the phlebotomy frequency based on hemoglobin levels, as suggested by the American Association for the Study of Liver Diseases 1, 6