Haematology · NEET PG Preparation Pathology

A 4-year-old boy is brought with recurrent hemarthrosis and deep muscle hematomas. Laboratory investigations reveal a prolonged aPTT with a normal PT…

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

easy · MCQ · Q-B4269A

A 4-year-old boy is brought with recurrent hemarthrosis and deep muscle hematomas. Laboratory investigations reveal a prolonged aPTT with a normal PT and normal bleeding time. Mixing studies correct the prolonged aPTT. Factor VIII assay is severely reduced, while Factor IX is normal. What is the inheritance pattern of this disorder?

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

Solution

The clinical and lab findings (hemarthrosis, prolonged aPTT correcting on mixing, low Factor VIII) are diagnostic of Hemophilia A. Hemophilia A and B are both X-linked recessive disorders.

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