Glanzmann thrombasthenia: Cerrahpasa Medical Faculty experience

Aim: Glazmann thrombasthenia is a rare autosomal recessive disease characterized by a defect in platelet aggregation. Here we report the management of children with Glazmann thrombasthenia followed up at Cerrahpasa Medical Faculty Pediatric Hematology Department. Material and Method: The files of nineteen patients (42% girls, 58% boys; median age: 10 months) were retrospectively reviewed. Results: The median age of onset of bleeding symptoms was 9 months (2 weeks-24 months). All patients presented with easy bruising and mucosal bleeding. Fourteen patients' parents were consanguineous. In 15 patients, flow cytometry was performed. According to this, seven patients had type I, six patients had type II and two patients had type III disease. Nine patients were treated with thrombocyte transfusion, tranexamic acid, recombinant active factor VII and fibrin glue as a single or combined therapy; none of them had a major bleeding complication. Conclusions: Bleeding control during invasive procedures may be challenging in children with Glazmann thrombasthenia; local treatments, desmopressin, steroid and antifibrinolytics may be used with success. (Turk Arch Ped 2012; 47: 104-6)