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Training & Education - Case Studies


ClaireCase Study 3: A young healthy woman with a positive family history.

Claire is a 36-year-old Irish-American female with no health-related complaints. Her brother was recently diagnosed with hemochromatosis. After talking with him and researching hemochromatosis on the Internet, she decided to make an appointment for a routine physical exam and discuss her health concerns with her primary care provider.

Past Medical History:
  • No significant past medical history.
  • Two normal pregnancies; two healthy preschool-aged children.
  • Uses oral contraceptives.
  • Denies routine blood donation.
Family History:
  • Father alive and healthy at age 67.
  • Mother alive with arthritis at age 63.
  • Brother age 42 has "heart problems" and was recently diagnosed with hemochromatosis. Genetic testing results: homozygote (C282Y/C282Y).
  • Sister age 38 alive and apparently healthy. Genetic testing results: heterozygote (C282Y/normal).
  • Sister age 34 alive and apparently healthy.
Social History:
  • Denies tobacco use, denies alcohol consumption, denies recreational drug use.
  • States she eats a "healthy diet," including 6–8 servings of fruits and vegetables a day; avoids eating red meat.
  • Denies multivitamin use.
Physical Exam:
  • Normal.
  • Height: 5'5" Weight: 135 lbs.
  • Vital signs within normal limits.

After reviewing Claire’s medical record, please respond to the questions below with your best possible answers. Response formats for responding 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.

As you counsel Claire, she states that she is not willing to undergo genetic testing due to a recent job change and a concern that she may be denied medical insurance.

Question 1: In the space below, type the option you would discuss with Claire, and explain your rationale for that option:

Question 2: Use the order form below to check the most appropriate blood test(s) to order to evaluate Claire's iron status. In the clinical setting, additional blood tests might be ordered, including hemoglobin and hematocrit.
Select the best answer(s) below:
Serum ferritin.
Serum iron (fasting blood draw).
Total iron-binding capacity (fasting blood draw).

Question 3: Remember to advise Claire to discontinue use of which of these products 24 hours prior to her fasting blood draw:
Select the best answer(s) below:
Iron supplements.
Placebos that contain iron, found in some oral contraceptive packages.
Vitamin C supplements.

Claire's lab results are:
Serum Ferritin35 ng/mL
Transferrin Saturation (Fasting)20%
Question 4: Type the treatment plan for Claire in the space below:

Summary of Case Study

  • A patient with genetic predisposition for hereditary hemochromatosis needs biochemical testing to check for iron overloading.
  • The known family history helps with the evaluation.
  • Biochemical measures can confirm the absence of iron overload.
  • Patient should be re-evaluated for iron overloading in 2–5 years.