What is the treatment for a patient with iron overload, indicated by elevated Ferritin levels, high Transferrin (Total Iron-Binding Capacity) saturation, and low Unbound Iron-Binding Capacity (UIBC)?

Treatment of Iron Overload

Phlebotomy therapy should be initiated immediately for this patient who shows clear evidence of iron overload with a transferrin saturation >94%, critically high iron level of 270, low UIBC <17, low TIBC <287, and elevated ferritin of 584. 1

Diagnostic Assessment

The laboratory values indicate significant iron overload:

• Transferrin saturation >94% (critically high; normal is typically <45% for females and <50% for males)
• Serum iron 270 (high critical)
• UIBC <17 (low)
• TIBC <287 (low)
• Ferritin 584 (elevated)

These findings are consistent with hemochromatosis or other iron overload disorders, with the transferrin saturation being particularly diagnostic. A transferrin saturation >45% in females or >50% in males with elevated ferritin strongly suggests iron overload 1, 2.

Treatment Algorithm

1. Immediate Management

• Begin therapeutic phlebotomy weekly (as tolerated) 1
• Initial frequency: Once weekly removal of 450-500 mL of blood (equivalent to 200-250 mg of iron per session)
• Continue until ferritin reaches target level of 50-100 μg/L 1

2. Monitoring During Treatment

• Check complete blood count before each phlebotomy to ensure adequate hemoglobin
• Monitor serum ferritin monthly during initial treatment phase
• Assess transferrin saturation periodically
• Be aware that deferasirox and other iron chelators may interfere with iron assays during treatment 3

3. Maintenance Phase

• Once ferritin reaches 50-100 μg/L, transition to maintenance phlebotomy
• Typically requires phlebotomy every 2-4 months to maintain ferritin between 50-100 μg/L 1
• Continue monitoring ferritin levels every 3-6 months

Special Considerations

Diagnostic Workup

While initiating treatment, consider genetic testing for hemochromatosis, particularly for the HFE gene mutations (C282Y, H63D) to determine if this is hereditary hemochromatosis 1, 2.

Dietary Recommendations

• Avoid vitamin C supplements as they enhance iron absorption 1
• Avoid iron supplements and multivitamins containing iron
• Limit alcohol consumption as it can exacerbate liver damage in iron overload

Organ Damage Assessment

• Evaluate for liver damage with liver function tests and consider non-invasive assessment of liver fibrosis (transient elastography) 1
• If ferritin >1,000 μg/L, liver biopsy may be considered to assess for fibrosis 1
• Consider cardiac evaluation if symptoms of heart disease are present 1

Alternative Treatments

For patients who cannot tolerate phlebotomy (e.g., severe anemia, poor venous access), iron chelation therapy can be considered:

• Deferasirox (oral) - typically dosed at 20-30 mg/kg/day 4
• Deferoxamine (parenteral) - typically dosed at 20-40 mg/kg/day 1

However, phlebotomy remains the first-line treatment for most patients with iron overload as it is more effective, less expensive, and has fewer side effects than chelation therapy 1.

Pitfalls to Avoid

1. Delaying treatment - Iron overload can lead to organ damage including liver cirrhosis, cardiomyopathy, and endocrine dysfunction 5, 6

2. Overlooking underlying causes - Consider secondary causes of iron overload such as chronic hepatitis, alcoholic liver disease, or transfusion dependence 7, 8

3. Excessive phlebotomy - Monitor for anemia and adjust frequency accordingly

4. Inadequate monitoring - Regular follow-up is essential to ensure iron levels are appropriately reduced and maintained

5. Ignoring family screening - First-degree relatives should be screened if hereditary hemochromatosis is confirmed 1

By implementing prompt phlebotomy therapy and appropriate monitoring, the risk of organ damage from iron overload can be significantly reduced, improving long-term morbidity and mortality outcomes.