Training & Education - Case Studies

Case Study 5: A healthy young man with no family history of hemochromatosis.

Jon is a 36-year-old white male of British descent with no complaints. He is an executive and recently completed an annual physical exam as required by his employer. Blood collected for screening purposes revealed a random elevated transferrin saturation of 82%.

Past Medical History:

• No significant past medical history.
• Denies routine blood donation.

Family History:

• No significant family history.

Social History:

• Active and apparently healthy.
• Single, no children.
• Denies alcohol use, denies recreational drug use, denies tobacco use.
• Takes a multivitamin daily but is not sure if it contains iron; enjoys oysters on the half shell and sushi; denies eating red meat or organ meat; denies drinking coffee, teas, or caffeinated beverages.

Physical Exam:

• Normal.
• Height: 5'10" Weight: 185 lbs.
• Vital signs: within normal limits.

After reviewing Jon's medical record, please respond to the questions below with your best possible answers. Response formats vary within the case study. Some questions will be open-ended, requiring you to compare your response to the expert opinion. Other questions will be multiple choice or drop-down choices.

Progress note:

The treatment plan:

• Quantitative phlebotomy of 500 mL of whole blood per week with careful monitoring of appropriate blood tests.
• Monitor serum ferritin every 4–8 weeks over the course of phlebotomy treatments. Continue to monitor patient’s health status, hemoglobin, and hematocrit over the course of the phlebotomy treatments.

Your discussion with the patient includes:

• Pre- and post-phlebotomy care.
• Family-based detection for siblings and parents and the importance of urging them to undergo biochemical testing.
• Options for genetic testing.
• Based on his social history, dietary modifications as an adjunct to phlebotomy treatment. In particular, clarify that he should eliminate iron supplements and multivitamins containing iron, and consumption of raw shellfish.

After reviewing Jon’s medical record and most recent progress note, please respond to the questions below with your best possible answers. Response formats vary within the case study. Some questions will be open-ended, requiring you to compare your response to the expert opinion. Other questions will be multiple choice or drop-down choices.

Follow-up office visit:

Jon has undergone phlebotomy treatments of 500 mL of whole blood weekly for approximately 5 months. His serum ferritin level is now 48 ng/mL. He has no complaints related to phlebotomy treatment.

Question 1: The most appropriate lab test to order to monitor Jon's iron status and manage his phlebotomy treatments over the course of his life is serum ferritintransferrin saturationserum iron. The ideal maintenance range for this blood value is 25-50 ng/mL55-75 ng/mL75-100 ng/mL.

Question 2: Complete the form below to indicate the plan for Jon's maintenance phlebotomy regimen: Phlebotomize 250 mL500 mL750 mLof whole blood once per weekonce per monthonce every 3 months.

Summary of Case Study

• During the course of his routine yearly physical exam, a wide panel of blood tests were ordered for this patient.
• The elevated transferrin saturation led to the early detection of iron overloading and early intervention with phlebotomy in this patient who has no signs, symptoms, or family history.
• Instruct the patient about his diet as an adjunct to phlebotomy treatment: Avoid using iron supplements or multivitamins containing iron, and avoid eating raw shellfish.
• The patient should be encouraged to discuss his diagnosis with family members and urge them to have their iron status evaluated with biochemical testing.

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