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Haematology · NEET PG Preparation Medicine

A 7-year-old boy is brought to the emergency department with prolonged bleeding following a minor dental extraction. Laboratory evaluation reveals a…

Practice question from Haematology (NEET PG Preparation Medicine), with the correct answer and a step-by-step solution.

easy · MCQ · Q-B4D0AB

A 7-year-old boy is brought to the emergency department with prolonged bleeding following a minor dental extraction. Laboratory evaluation reveals a normal platelet count, prolonged aPTT, normal prothrombin time (PT), and normal thrombin time. Mixing studies demonstrate correction of the aPTT. Factor VIII activity is severely reduced at 2% of normal, while Factor IX activity is normal. The patient is treated with recombinant factor VIII concentrates. Which of the following pattern of inheritance characterizes this disorder?

  1. A.Autosomal dominant
  2. B.Autosomal recessive
  3. C.X-linked recessiveCorrect answer
  4. D.Mitochondrial

Solution

The clinical and laboratory findings (prolonged aPTT, low Factor VIII, normal PT and bleeding time) are classic for Hemophilia A (Factor VIII deficiency). Hemophilia A and Hemophilia B (Factor IX deficiency) are both X-linked recessive disorders, predominantly affecting males and transmitted by carrier females.

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