A 2-year-old boy has recurrent hemarthroses of the knee and a family history of a maternal uncle with a similar bleeding disorder. PT is normal, aPTT is prolonged, platelet count and bleeding time are normal. Factor VIII activity is 3% of normal. Which statement about his condition is correct?

• A It is inherited as an autosomal recessive trait
• B Desmopressin is the mainstay of long-term management
• C His future sons will all be affected
• D Factor VIII replacement is given to achieve levels above 30% for acute hemarthrosis ✓

Explanation

Hemophilia A is an X-linked recessive disorder of factor VIII; levels below 5% cause spontaneous hemarthroses. Treatment of acute hemarthrosis requires raising factor VIII above roughly 30% with recombinant factor VIII concentrate. Desmopressin is useful in mild hemophilia A but not in severe disease with 3% activity. As an X-linked disorder, affected males transmit the gene to all daughters (carriers), not sons, which eliminates option C.

Reference: Nelson Textbook of Pediatrics, 21st ed.

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Written and medically reviewed by the StethoPrep medical team.