Training & Education - Case Studies
Case Study 4: An African American man may be susceptible to hemochromatosis.
Patrick is a 50-year-old overweight African American male with complaints of abdominal pain.
Past Medical History:
- Recently diagnosed with diabetes, which is well controlled by diet and oral agents.
- Denies routine blood donation.
- Mother age 75 with adult-onset diabetes and arthritis.
- Drinks a glass of wine occasionally with dinner, denies use of tobacco, denies use of recreational drugs.
- Eats red meat and "fried foods." Denies eating raw shellfish.
- Possible palpable liver.
- Height: 5'10" Weight: 205 lbs.
- Vital signs: Within normal limits.
After reviewing Patrick'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.
A fasting specimen was collected to measure serum iron and total iron-binding capacity, which allows for the calculation of transferrin saturation. Serum ferritin was also obtained.
|Patrick's lab results are:|
|Serum Ferritin||90 ng/mL|
|Transferrin Saturation (Fasting)||43%|
|ALT||2 × normal|
|AST||2 × normal|
- African Americans may be at risk for hemochromatosis. Patrick’s symptoms are vague and required evaluation of serum iron measures.
- Although it is rare to find HFE mutations in African Americans with iron overload (McNamara L, 1998), these mutations have been found in a few individuals (Barton JC and Acton RT, 2000 and 2001). It has been suggested that their appearance is due to admixture. Current research suggests that genes other than HFE are responsible for the majority of iron overload in African Americans.
- The patient's liver disease does not appear to be related to iron overload.
- Page last reviewed: June 16, 2015
- Page last updated: June 16, 2015
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