Diamond-Blackfan anemia differs from Fanconi anemia in that Diamond-Blackfan anemia is characterized by:
- A Pancytopenia with chromosomal breakage on DEB test
- B Hemolytic anemia with spherocytes on peripheral smear
- C Pure red cell aplasia with macrocytosis and elevated erythrocyte adenosine deaminase ✓
- D Hypersegmented neutrophils and megaloblastic marrow
Correct answer: C. Pure red cell aplasia with macrocytosis and elevated erythrocyte adenosine deaminase
Explanation
Diamond-Blackfan anemia is a congenital pure red cell aplasia caused by ribosomal protein mutations (RPS19 most common), presenting with macrocytic anemia and markedly elevated erythrocyte adenosine deaminase (eADA). Fanconi anemia causes pancytopenia with chromosomal fragility on DEB/MMC testing. Spherocytes indicate hereditary spherocytosis or autoimmune hemolytic anemia.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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