A 4-month-old boy presents with severe anemia since birth requiring transfusion support. Examination shows no other congenital anomalies. CBC: Hb 5 g/dL, MCV 112 fL, reticulocytes 0.2%, WBC and platelets normal. Fetal hemoglobin is elevated and serum erythrocyte adenosine deaminase activity is high.

• A Diamond-Blackfan anemia ✓
• B Fanconi anemia
• C Transient erythroblastopenia of childhood
• D Pearson marrow pancreas syndrome

Explanation

Diamond-Blackfan anemia is a congenital pure red cell aplasia due to ribosomal protein gene mutations, classically RPS19. Features include macrocytic anemia with profound reticulocytopenia from early infancy, elevated fetal hemoglobin, elevated erythrocyte adenosine deaminase, and normal white cells and platelets. Transient erythroblastopenia occurs later, usually between 1 and 3 years, and lacks macrocytosis and elevated eADA. Fanconi anemia is pancytopenic with skeletal and radial anomalies and chromosomal breakage. Pearson syndrome involves pancreatic exocrine dysfunction and vacuolated marrow precursors.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.