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Haemophilia A — MRCPCH FOP MCQ

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ModerateHaematology and oncologyHaemophilia AMRCPCH FOP

A 14-month-old boy has recurrent large bruises since cruising and a swollen painful knee after minor trauma. His maternal uncle has a bleeding disorder; platelet count is normal and APTT is prolonged. What is the most likely diagnosis?

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Correct answer: C — Haemophilia A

A boy with haemarthrosis, family history through the maternal line, normal platelets and prolonged APTT suggests haemophilia A. ITP causes thrombocytopenia and petechiae rather than deep joint bleeding. von Willebrand disease more often causes mucosal bleeding and may have a less striking haemarthrosis pattern. The pearl is to consider both inherited bleeding disorders and safeguarding when bruising is unexplained.

Reference: UKHCDO haemophilia guidance; NICE CKS Bruising