USMLE STEP 1 Question of the Day #23

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Correct Answer: C. Thumb defects and craniofacial abnormalities
Topic: Hematology
Explanation:
Diamond-Blackfan Anemia (DBA) is a rare congenital hypoplastic anemia that typically presents in infancy. Key characteristics include:
* Macrocytic anemia: Patients have large red blood cells with a low reticulocyte count, indicating a failure of red blood cell production.
* Congenital abnormalities: Many patients have physical anomalies, such as thumb defects (triphalangeal thumbs), craniofacial abnormalities (such as cleft palate), and short stature.
Other Answer Choices:
A) Increased red blood cell precursors in the bone marrow: This is characteristic of conditions like polycythemia vera, where there is an overproduction of red blood cells.
B) Macrocytic anemia with reticulocytosis: This is seen in conditions like vitamin B12 or folate deficiency, where there is an increased production of immature red blood cells (reticulocytes) in response to the anemia.
D) Hypersegmented neutrophils in the peripheral blood: This is typically associated with megaloblastic anemia due to vitamin B12 or folate deficiency, where the white blood cells show characteristic changes.
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What is the retic count in congenital RBC aplasias?