Hereditary clotting factor deficiencies leading to bleeding.
Signs & Symptoms
Profuse post-circumcision hemorrhage in infants, joint and soft tissue bleeds and excessive bruising, prolonged bleeding after dental extractions, spontaneous hematuria and GIT hemorrhage, recurrent painful hemarthroses and muscle hematomas, poor treatment leads to progressive joint deformity and disability.
Sex-linked inherited defect leading to absence or low levels of plasma factor VIII.
Peripheral blood characteristics
Lymphocytosis with small lymphocytes. Smudge or smear cells may be present. Normochormic normocytic anemia due to marrow infiltration or hypersplenism.
Important investigations & related results
Prolonged APTT, normal PT and bleeding time. Low factor VIII levels.
Treatment & management
Factor VIII replacement therapy and DDAVP (desmopressin).
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