Initial Treatment for Hemochromatosis
The first-line treatment for hemochromatosis with evidence of iron overload is therapeutic phlebotomy performed weekly (or biweekly as tolerated), with a target serum ferritin level of 50-100 μg/L. 1
Therapeutic Phlebotomy Protocol
Induction Phase
- Remove one unit of blood (approximately 450-500 mL) weekly or biweekly as tolerated 1
- Check hemoglobin/hematocrit prior to each phlebotomy session 1
- Ensure hemoglobin/hematocrit does not fall below 80% of the starting value 1
- Monitor serum ferritin levels every 10-12 phlebotomies (approximately every 3 months) 1
- Continue until serum ferritin reaches 50-100 μg/L 1
- Avoid causing iron deficiency (ferritin <50 μg/L) 1
Maintenance Phase
- After achieving target ferritin levels, transition to less frequent phlebotomies 1
- Individualized schedule based on rate of iron reaccumulation (may range from monthly to 1-2 units per year) 1
- Monitor ferritin levels to maintain between 50-100 μg/L 1
Clinical Benefits of Phlebotomy
- Improves survival when initiated before development of cirrhosis and diabetes 1
- Reduces or resolves several symptoms: 1
- Malaise and fatigue
- Skin pigmentation
- Abdominal pain
- Insulin requirements in diabetics
- May lead to regression of hepatic fibrosis in approximately 30% of cases 1
- Normalizes elevated liver enzymes 1
Important Considerations and Precautions
- Avoid vitamin C supplements, especially during iron depletion phase, as they can accelerate iron mobilization to potentially toxic levels 1
- Avoid iron supplements and iron-fortified foods 1
- Limit red meat consumption 1
- Restrict alcohol intake, particularly during iron depletion phase 1
- Avoid raw or undercooked shellfish due to risk of Vibrio vulnificus infection 1
- No specific dietary modifications are necessary beyond these precautions 1
Alternative Treatments
Erythrocytapheresis can be considered as an alternative to phlebotomy, especially during induction phase 1
- Requires fewer procedures to achieve iron depletion
- May be more cost-effective in selected cases
- Causes fewer hemodynamic changes than phlebotomy
Iron chelation therapy (e.g., deferasirox) should only be considered if phlebotomy is not possible 1
- Limited evidence for use in hemochromatosis
- Associated with gastrointestinal side effects and potential kidney function impairment
- Not approved for hemochromatosis by European Medicines Agency
Monitoring and Follow-up
- Patients with cirrhosis should continue surveillance for hepatocellular carcinoma even after iron depletion 1
- Monitor for compliance with maintenance therapy, as adherence tends to decrease over time 2
- Watch for signs of excessive phlebotomy leading to iron deficiency (fatigue, anemia, microcytosis) 3
Therapeutic phlebotomy remains the cornerstone of hemochromatosis management, with strong evidence supporting its role in reducing morbidity and mortality when initiated early 4.