Initial Treatment Recommendations for Hemochromatosis
The first-line treatment for patients with hemochromatosis and iron overload is therapeutic phlebotomy, which should be performed weekly (as tolerated) until iron stores are depleted to a target ferritin level of 50 μg/L. 1
Phlebotomy Protocol
Induction Phase
- Remove one unit of blood (450-500 mL) weekly or biweekly 1
- Check hemoglobin/hematocrit prior to each phlebotomy 1
- Do not allow hemoglobin to fall by more than 20% of prior level 1
- If hemoglobin <12 g/dL, reduce frequency; if <11 g/dL, pause treatment 1
- Monitor serum ferritin every 10-12 phlebotomies 1
- After ferritin reaches 200 μg/L, check ferritin every 1-2 treatment sessions 1
- Continue until serum ferritin reaches 50 μg/L 1
Maintenance Phase
- Continue phlebotomy at less frequent intervals (typically 2-6 times per year) 1
- Maintain serum ferritin between 50-100 μg/L 1
- Check ferritin and transferrin saturation every 6 months 1
- Lifelong follow-up is required 1
Alternative Treatment Options
Erythrocytapheresis
- Can be considered as an alternative to phlebotomy 1
- Advantages include fewer procedures and shorter treatment duration 1
- Results in fewer hemodynamic changes compared to phlebotomy 1
- May be more cost-effective in the induction phase 1
- Mild citrate reactions are common 1
Iron Chelation Therapy
- Second-line treatment when phlebotomy is not possible 1
- Oral deferasirox is the most studied option for hemochromatosis 1
- Should not be used in patients with advanced liver disease 1
- Associated with gastrointestinal side effects and potential kidney function impairment 1
- Requires careful risk-benefit assessment by a specialist 1
Dietary and Lifestyle Recommendations
- Dietary modifications should not substitute for iron removal therapy 1
- Avoid iron and vitamin C supplements 1
- Limit red meat consumption 1
- Restrict alcohol intake, especially during iron depletion phase 1
- Patients with cirrhosis should abstain from alcohol completely 1
- Avoid raw/undercooked seafood due to risk of Vibrio vulnificus infection 1
- Avoid contact of wounds with seawater 1
Monitoring Treatment Response
- Compliance with phlebotomy therapy decreases over time, with an average decline of 6.8% annually 2
- Excessive phlebotomy can lead to iron deficiency with symptoms and anemia 3
- Regular monitoring of hemoglobin and ferritin levels is essential to prevent both iron overload and iron deficiency 3
Special Considerations
- In patients with advanced cirrhosis, iron removal does not reverse the condition 1
- Patients with decompensated liver disease may require liver transplantation 1
- Proton pump inhibitors (prescribed for other indications) can reduce phlebotomy requirements 1
- C282Y homozygotes with elevated ferritin (<1000 μg/L) without liver disease indicators can proceed directly to phlebotomy without liver biopsy 1
Treatment Benefits
- Early treatment prevents complications of iron overload including hepatic cirrhosis, liver cancer, diabetes, joint disease, and cardiomyopathy 4
- Symptoms such as weakness, fatigue, increased hepatic enzyme concentrations, right upper quadrant pain, and hyperpigmentation often improve with therapeutic phlebotomy 4
- Phlebotomy therapy has been demonstrated to improve survival in clinical and cohort studies 1