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Diamond-Blackfan Anaemia — RACP Paediatrics MCQ

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HardHaematology & OncologyDiamond-Blackfan AnaemiaRACP Paediatrics

A 2-year-old presents with pallor and macrocytic anaemia (MCV 108 fL, Hb 55 g/L). Reticulocyte count is very low. WCC and platelets are normal. Bone marrow shows absent red cell precursors with normal myeloid and megakaryocytic lines. What is the diagnosis?

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Correct answer: D — Diamond-Blackfan anaemia

Diamond-Blackfan anaemia: congenital pure red cell aplasia presenting in infancy/early childhood with macrocytic anaemia, reticulocytopenia, and absent red cell precursors on bone marrow. It is associated with physical anomalies (thumb, facial) in 50%. Treatment includes corticosteroids (70% respond), chronic transfusion, and HSCT for refractory cases.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Red Cell Aplasia