Initial Treatment for Hemochromatosis
The first-line treatment for patients diagnosed with hemochromatosis with evidence of iron overload is therapeutic phlebotomy, which should be performed weekly (or fortnightly) during the induction phase until iron stores are depleted to a serum ferritin level of 50 μg/L. 1
Treatment Protocol
Induction Phase
- Frequency: Weekly or biweekly phlebotomy
- Volume: One unit of blood (450-500 mL, containing approximately 200-250 mg iron)
- Duration: Continues until target ferritin level is reached (may take months to years depending on iron overload severity)
- Monitoring:
- Check hemoglobin before each phlebotomy session
- If hemoglobin <12 g/dL, reduce frequency
- If hemoglobin <11 g/dL, pause treatment temporarily
- Check ferritin after every 4 phlebotomies until 200 μg/L is reached
- Then check ferritin every 1-2 treatment sessions
- Target: Serum ferritin of 50 μg/L (but not lower to avoid iron deficiency) 1, 2
Maintenance Phase
- Frequency: Variable (typically 2-6 phlebotomies per year)
- Target: Maintain serum ferritin between 50-100 μg/L
- Monitoring: Check ferritin and transferrin saturation every 6 months 1, 2
Alternative Treatment Options
Erythrocytapheresis
- Can be considered as an alternative to phlebotomy
- More efficient removal of red blood cells (up to 1000 mL vs. 250 mL per session)
- Cost-effective in the induction phase due to fewer required interventions
- Particularly useful for selected patients with severe iron overload 1, 3
- May reduce treatment duration by up to 70% compared to phlebotomy 3
Iron Chelation Therapy
- Second-line option only when phlebotomy is not possible
- Requires careful risk-benefit assessment
- Most evidence pertains to oral deferasirox (DFX)
- Should not be used in patients with advanced liver disease
- Associated with gastrointestinal side effects and potential kidney function impairment 1
- Not FDA-approved specifically for hemochromatosis 4
Dietary and Lifestyle Modifications
While important, dietary modifications should not substitute for iron removal therapy 1:
- Avoid iron supplementation and iron-fortified foods
- Avoid supplemental vitamin C, especially before iron depletion
- Limit red meat consumption
- Restrict alcohol intake, particularly during iron depletion phase
- Patients with iron overload and/or liver abnormalities should avoid or minimize alcohol
- Patients with cirrhosis should abstain from alcohol completely
- Consume fruit juices and citrus fruits in moderation, not with other foods
- Avoid raw or undercooked shellfish due to infection risk 1, 2
Clinical Response to Treatment
Certain clinical features respond well to phlebotomy therapy 1:
- Malaise and fatigue
- Skin pigmentation
- Insulin requirements for diabetics
- Abdominal pain
- Liver enzyme abnormalities
Features less responsive to iron removal:
- Arthropathy
- Hypogonadism
- Advanced cirrhosis (no response)
Monitoring and Follow-up
- Life-long follow-up is essential
- Regular screening for hepatocellular carcinoma in patients with cirrhosis
- Monitor for complications of iron overload
- Avoid iron deficiency (serum ferritin should not fall below 50 μg/L) 1, 2
Common Pitfalls
- Overtreatment leading to iron deficiency: Excessive phlebotomy can cause symptomatic iron deficiency with anemia, which should be avoided 5
- Inadequate monitoring: Failure to regularly check ferritin and hemoglobin levels
- Premature termination of therapy: Treatment must continue into the maintenance phase to prevent iron reaccumulation
- Relying solely on dietary modifications: Diet alone cannot adequately treat hemochromatosis 1
- Missing hepatocellular carcinoma surveillance: Patients with cirrhosis require continued screening even after iron depletion 1
Early diagnosis and treatment significantly improve survival and can prevent complications of iron overload, including hepatic cirrhosis, primary liver cancer, diabetes mellitus, hypogonadism, joint disease, and cardiomyopathy 1, 2.