Diamond-Blackfan anemia

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Flashcards

Diamond-Blackfan anemia

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Questions

USMLE® Step 1 style questions USMLE

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A 25-year-old woman presents to her outpatient provider for symptoms of fatigue and reduced exercise tolerance that started 2 weeks ago. Past medical history is notable for seizure disorder that is currently managed with phenytoin. In addition, the patient had an episode of pyelonephritis several weeks ago that was successfully treated with trimethoprim-sulfamethoxazole. The patient has menstrual periods every 28 days, and denies dysmenorrhea and menorrhagia. Physical examination is notable for conjunctival pallor. Laboratory testing reveals a hemoglobin on 9.3 g/dL. A peripheral blood smear is performed and shows the following:  

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Which of the following sets of red blood cell characteristics is most likely to be seen in this patient?    

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Summary

Diamond-Blackfan anemia (DBA) is a genetic disorder characterized by the bone marrow's inability to produce red blood cells. It is also associated with short stature, low-set ears, a small jaw, thumbs with three phalanges, and a webbed neck.

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