A 3-month-old infant is exhibiting pallor and fatigue. The pediatrician orders a CBC, which displays a low RBC count, H&H, and normal WBC and PLT counts. EPO levels are increased. BM aspirate shows prominent erythroid hypoplasia

Cytogenetic analysis reveals the presence of RPS19 mutation. Based on these findings, what is the patient most likely suffering from?

a. CDA II
b. Pure red cell aplasia
c. Diamond-Blackfan anemia
d. Fanconi's syndrome


Correct Answer: C

Health Professions

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