Macrocytic anemia: Pathology review
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Questions
USMLE® Step 1 style questions USMLE
of complete
A 16-month-old boy is brought by his parents to the pediatrician’s office to establish care. The patient’s family recently immigrated from Eastern Europe, and medical records are not available. The mother notes that the patient has not been growing as quickly as his siblings grew. In the office, the patient’s temperature is 37.5°C (99.5°F), blood pressure is 105/62 mmHg, pulse is 100/min, and respirations are 28/min. Physical exam reveals hyperpigmented spots on the patient’s body and hypoplastic thumbs. The patient’s height, weight, and head circumference are below the 3rd percentile. Laboratory testing reveals the following results:
The patient’s condition is most likely due to a defect involving which of the following processes?
| Laboratory value | Result |
| Hemoglobin | 8.1 g/dL |
| Leukocyte | 2,300/mm3 |
| Platelet | 65,000/mm3 |
| Mean Corpuscular Volume | 109 mm3 |
Sources
- "Robbins Basic Pathology" Elsevier (2017)
- "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
- "Pernicious Anemia" New England Journal of Medicine (1997)
- "Megaloblastic Anemias" Medical Clinics of North America (2017)
- "Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families" Am J Hum Genet (1997)
- "Why does the bone marrow fail in Fanconi anemia?" Blood (2014)
- "Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference" British Journal of Haematology (2008)
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