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Aplastic Anaemia — RACP Adult Medicine MCQ

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ModerateHaematologyAplastic AnaemiaRACP Adult Medicine

A 30-year-old man presents with pancytopenia (Hb 72, WCC 1.2, Plt 18). Reticulocyte count is very low. Bone marrow is hypocellular (<15% cellularity) with fat replacement. Cytogenetics are normal. No dysplasia or blasts. He has no splenomegaly. PNH flow cytometry is positive (small clone). What is the most likely diagnosis?

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Correct answer: BAplastic anaemia

Pancytopenia with severely hypocellular marrow, no dysplasia/blasts, normal cytogenetics, and PNH clone is severe aplastic anaemia. PNH clones are found in ~50% of AA (shared pathogenic mechanism with PNH — immune attack on haematopoietic stem cells). Treatment for severe AA age <40 with matched sibling: allo-SCT. Without sibling donor: IST (horse ATG + ciclosporin + eltrombopag per RACE trial).

Reference: BSH – 2024 – Aplastic Anaemia; RACE Trial