What is the primary treatment for a patient with Hematochromatosis (iron overload disorder)?

Primary Treatment for Hemochromatosis

Therapeutic phlebotomy is the definitive first-line treatment for all patients with hemochromatosis and iron overload, and should be initiated immediately to prevent organ damage and improve survival. 1, 2, 3

Treatment Protocol: Two-Phase Approach

Induction Phase (Iron Depletion)

• Remove one unit of blood (450-500 mL) weekly or biweekly until serum ferritin reaches 50-100 μg/L 1, 2, 3

• Check hemoglobin/hematocrit before every single phlebotomy session to prevent excessive anemia 2, 3

• Never allow hemoglobin to drop by more than 20% from the starting value 1, 3

• If hemoglobin falls below 12 g/dL, reduce frequency; if below 11 g/dL, pause treatment entirely 3

• Monitor serum ferritin every 10-12 phlebotomies initially, then every 1-2 sessions once ferritin reaches 200 μg/L 2, 3

• The American Association for the Study of Liver Diseases recommends that C282Y homozygotes with ferritin below 1000 μg/L and no significant liver disease can proceed directly to phlebotomy without liver biopsy 2

Maintenance Phase (Lifelong)

• Continue phlebotomy 2-6 times per year to maintain serum ferritin between 50-100 μg/L 1, 3

• Check ferritin and transferrin saturation every 6 months 3

• Frequency varies based on individual iron reaccumulation rates 1

When Phlebotomy Cannot Be Used

Iron chelation therapy with deferasirox is second-line when phlebotomy is contraindicated or not tolerated 1, 3

• Critical caveat: Deferasirox should NOT be used in patients with advanced liver disease 1, 3

• The American Association for the Study of Liver Diseases indicates that secondary iron overload from ineffective erythropoiesis requires chelation rather than phlebotomy 2

Essential Dietary Restrictions

• Avoid iron supplements and iron-fortified foods completely 1

• Avoid supplemental vitamin C entirely during active iron depletion, as it accelerates iron mobilization and increases oxidative stress 2

• Limit red meat consumption and restrict alcohol intake 1, 3

• Avoid raw or undercooked shellfish due to risk of fatal Vibrio vulnificus infection 1, 3

Critical Pitfalls to Avoid

• In patients with cardiac involvement, rapid iron mobilization increases risk of sudden death—the American Heart Association recommends considering slower phlebotomy schedules or iron chelation instead 2

• Over-aggressive phlebotomy can cause iatrogenic iron deficiency with persistent symptoms lasting months 4

• The American Association for the Study of Liver Diseases warns that phlebotomy is NOT recommended for mild secondary iron overload in chronic hepatitis C or alcoholic liver disease 2

Why This Treatment Works

• Early diagnosis and treatment significantly improve survival when initiated before development of cirrhosis and diabetes 1

• Phlebotomy prevents complications including hepatic cirrhosis, primary liver cancer, diabetes mellitus, hypogonadotrophic hypogonadism, joint disease, and cardiomyopathy when applied before severe iron overload develops 5

• Symptoms including fatigue, skin pigmentation, abdominal pain, and elevated liver enzymes often improve substantially with treatment 1, 5

Long-term Monitoring Requirements

• Patients with cirrhosis require regular screening for hepatocellular carcinoma (HCC), which accounts for approximately 30% of hemochromatosis-related deaths 1

• Lifelong follow-up is mandatory, though compliance with maintenance therapy decreases approximately 6.8% annually 6