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Severe Haemophilia A — RACP Adult Medicine MCQ

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EasyHaematologySevere Haemophilia ARACP Adult Medicine

A 12-year-old boy presents with recurrent spontaneous haemarthroses (knees and elbows) since infancy. His mother has no bleeding history. APTT is prolonged, PT is normal, platelet count is normal. Factor VIII level is <1%. What is the most likely diagnosis?

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Correct answer: B — Haemophilia A (factor VIII deficiency)

Recurrent haemarthroses since infancy in a male with prolonged APTT, normal PT, and very low factor VIII (<1%) is severe haemophilia A. X-linked recessive inheritance. Treatment is factor VIII replacement (recombinant or plasma-derived). Prophylactic factor replacement from childhood reduces joint damage. Emicizumab (bispecific antibody) is now used for prophylaxis.

Reference: AHCDO – 2024 – Haemophilia Guidelines; WFH 2024