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Training & Education - Case Studies


MichaelCase Study 2: A 69-year-old woman with no significant family history who may be susceptible.

Marie is a 69-year-old French-American woman with complaints of fatigue and feeling "weak and tired." She states she has "lost interest in doing the things I normally enjoy." She also complains of pain in her knees.

Past Medical History:
  • Patient has been healthy and active.
  • Denies blood donation.
Family History:
  • Mother died at age 75 of cancer.
  • Father died of a stroke at age 78.
  • Brother age 65, alive and apparently healthy.
Social History:
  • Three adult children apparently alive and healthy.
  • Denies tobacco use, denies alcohol consumption, denies recreational drug use.
Physical Exam:
  • Mild effusion in left knee.
  • Height: 5'2" Weight: 105 lbs.
  • Vital signs within normal limits.

After reviewing Marie’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.

Question 1: In the space below, type the factors that may affect the clinical expression of hemochromatosis. Also, type the signs and symptoms that would heighten your suspicion that Marie may have hemochromatosis.

Based on the suggestive history, fasting serum iron and total iron-binding capacity were ordered, these allow for calculation of transferrin saturation. Serum ferritin was also ordered. In the clinical setting, additional lab tests may be indicated.

Marie's lab results are:
Serum Ferritin700 ng/mL
Transferrin Saturation (Fasting)97%
ALTWithin normal limits
ASTWithin normal limits

Additional workup is negative for other possible causes of elevated iron levels. As you counsel Marie, you discuss family-based detection and urge her to encourage siblings and children to undergo biochemical testing. You also discuss dietary modifications as an adjunct to phlebotomy treatment.

Question 2: Complete the order form below to initiate Marie's phlebotomy treatment:
Phlebotomize of whole blood with careful monitoring of the appropriate blood tests over the course of the phlebotomy treatments.

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 phlebotomy treatments.

Follow up visit:
Marie returns to the office for a follow-up visit. She has undergone weekly phlebotomies of 250 mL for 10 months. She now complains of feeling "dizzy and lightheaded." Serum ferritin is drawn and is 8 ng/mL.

Question 3: Type the treatment plan for Marie in the space below:

Summary of Case Study

  • The patient’s genotype is unknown.
  • Her family history is not suggestive of hemochromatosis.
  • She exhibits evidence of iron overload through biochemical measurements.
  • Regardless of genotype, her hemochromatosis should be treated with phlebotomy.
  • This case study demonstrates the importance of monitoring serum ferritin levels and other appropriate blood tests over the course of phlebotomy treatment.
    • Anemia may result if treatment is too aggressive. Elderly adults of small build may require adjustment in the amount of phlebotomy.
  • The patient should be encouraged to urge family members to have their iron status evaluated with biochemical testing.