What management approach is recommended for a marathon trainee with elevated iron levels and saturation?

Management of Elevated Iron Levels in a Female Marathon Trainee

The 24-year-old female marathon trainee with elevated serum iron (274) and transferrin saturation (68%) requires evaluation for hemochromatosis and should temporarily avoid iron supplementation until further testing is completed.

Assessment of Current Iron Status

The patient presents with:

• Normal CBC
• Elevated serum iron (274)
• Elevated transferrin saturation (68%)
• Normal total iron binding capacity (405)
• Normal ferritin (45)

This laboratory profile is concerning for potential iron overload rather than iron deficiency, which is more commonly seen in female athletes 1.

Interpretation of Iron Studies

The patient's transferrin saturation of 68% is significantly elevated above normal limits. According to clinical guidelines:

• Transferrin saturation >45-50% suggests potential iron overload
• Normal ferritin (45) does not rule out early hemochromatosis
• The combination of high iron, high transferrin saturation with normal TIBC and ferritin is concerning for hereditary hemochromatosis in its early stages 1, 2

Recommended Next Steps

1. Genetic testing for hereditary hemochromatosis

   • Test for HFE gene mutations (C282Y, H63D)
   • This is essential to rule out hereditary hemochromatosis, which can lead to significant organ damage if untreated 2

2. Avoid iron supplementation

   • The patient should immediately discontinue any iron supplements
   • Avoid vitamin C supplements taken with meals (enhances iron absorption)
   • Limit consumption of high-iron foods until diagnosis is clarified 3

3. Additional laboratory testing

   • Complete liver function tests to assess for liver damage
   • Fasting glucose to screen for diabetes (a complication of hemochromatosis)
   • Repeat iron studies in 2-4 weeks to confirm findings 2

4. Evaluate for secondary causes of elevated iron

   • Recent iron supplementation history
   • Vitamin C supplementation
   • Recent blood transfusions
   • Hepatitis or liver disease 1

Special Considerations for Female Athletes

While iron deficiency is common in female marathon runners (affecting up to 50% of female athletes) 1, 4, this patient shows the opposite pattern with iron overload markers. This is unusual and requires careful evaluation.

Female endurance athletes typically experience:

• Increased iron losses through sweat, gastrointestinal bleeding, and menstruation
• Increased iron requirements due to expanded red cell mass
• Reduced iron absorption due to exercise-induced inflammation 1, 5

Monitoring and Follow-up

1. Short-term follow-up (2-4 weeks)

   • Repeat iron studies (serum iron, TIBC, transferrin saturation, ferritin)
   • Review genetic testing results
   • Assess for symptoms of iron overload (fatigue, joint pain, skin pigmentation)

2. Training considerations

   • The patient can continue marathon training while awaiting further evaluation
   • Monitor for exercise intolerance or unusual fatigue
   • Ensure adequate hydration to maintain appropriate plasma volume 1

3. Nutritional guidance

   • Temporarily reduce consumption of iron-rich foods
   • Avoid vitamin C with meals
   • Maintain adequate caloric intake for training demands 2

Potential Pitfalls

• Misdiagnosing as normal: Elevated transferrin saturation >50% is abnormal even with normal ferritin and requires investigation 1
• Attributing to training: While plasma volume changes during training can affect some lab values, they do not typically cause elevated transferrin saturation to this degree 1
• Missing hemochromatosis: Early detection of hemochromatosis is critical to prevent organ damage through appropriate management 2
• Inappropriate iron supplementation: Providing iron supplements to an athlete with potential iron overload could accelerate organ damage 3

If genetic testing confirms hemochromatosis, therapeutic phlebotomy may be indicated, which would require coordination with the patient's training schedule to minimize impact on performance.