What is the initial treatment for patients diagnosed with hemochromatosis?

Initial Treatment for Hemochromatosis

The initial treatment for patients diagnosed with hemochromatosis with evidence of iron overload is therapeutic phlebotomy, which should be performed regularly until iron stores are depleted. 1, 2

Therapeutic Phlebotomy Protocol

Initial Depletion Phase

• Frequency: Weekly removal of 1 unit (450-500 mL) of blood 1, 3
• Target: Continue until serum ferritin reaches 10-20 μg/L 3
• Monitoring:
  • Hemoglobin levels at each phlebotomy session 2
  • Serum ferritin levels every 3 months during treatment 2

Maintenance Phase

• Frequency: Typically every 1-4 months, individualized based on ferritin levels 2
• Target: Maintain serum ferritin ≤50 μg/L 1, 2, 3
• Monitoring: Check ferritin levels every 3-4 months 2

Treatment Parameters and Considerations

Laboratory Monitoring

• Ferritin target range: 50-100 μg/L (optimal maintenance range) 2
• Transferrin saturation: Target ≥20% 2
• Liver function tests: Regular monitoring recommended 2
• Nutritional monitoring: Folate and vitamin B12 levels in patients requiring numerous phlebotomies 2

Important Cautions

• Avoid vitamin C supplements during treatment as they enhance iron absorption 1
• Avoid iron supplements and iron-fortified foods 2
• Limit red meat consumption 2
• Restrict alcohol intake, especially during iron depletion phase 2
• Monitor for iron deficiency: Excessive phlebotomy can lead to symptomatic iron deficiency 4

Special Considerations

Patients with Cirrhosis

• Patients with hemochromatosis and cirrhosis should undergo regular screening for hepatocellular carcinoma in addition to phlebotomy 1

Alternative Treatment Options

For patients who cannot tolerate phlebotomy or have contraindications:

• Erythrocytapheresis: A more efficient method that can remove up to 1000 mL of erythrocytes per session (compared to 250 mL with phlebotomy) 5, 6

  • Reduces total number and duration of treatments by approximately 70% 5
  • May cause less pronounced decrease in serum hepcidin compared to phlebotomy 6
  • Maintains more stable hemoglobin levels during treatment 6

• Iron chelation therapy: For secondary iron overload associated with ineffective erythropoiesis

  • Deferoxamine is indicated for chronic iron overload due to transfusion-dependent anemias 7
  • Not indicated for primary hemochromatosis, as phlebotomy is the method of choice 7

Common Pitfalls to Avoid

• Inadequate monitoring: Failure to regularly check ferritin levels can lead to under- or over-treatment 4
• Excessive phlebotomy: Can cause symptomatic iron deficiency with anemia, fatigue, and weakness 4
• Insufficient treatment: Inadequate iron removal can lead to progressive organ damage 3
• Poor compliance: Patient adherence to maintenance therapy tends to decrease over time (approximately 6.8% annually), requiring regular follow-up 8
• Misinterpreting elevated ferritin: Elevated levels can be due to inflammation rather than iron overload 2

When properly implemented, therapeutic phlebotomy can prevent complications of iron overload including hepatic cirrhosis, primary liver cancer, diabetes mellitus, joint disease, and cardiomyopathy 3.