Glanzmann trombastenisi: Cerrahpaşa Tıp Fakültesi deneyimi

Abstract

Aim: Glazmann thrombasthenia is a rare autosomal recessive disease characterized by a defect in platelet aggregation. Herein, 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, 7 patients had type I, 6 patients had type II and 2 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, DDAVP , steroid and antifibrinolytics may be used with success. (Turk Arch Ped 2012; 47: 106-8)

Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience

“…Since type 1 GT is seen in 52.2% of the GT patients, type 1 is considered to be the most common subgroup in Turkey, followed by type 3 and type 2 that is seen in 30.4% and 17.4%, respectively. The data confirmed to the previous studies from Turkey that type 1 GT was most common in Turkish patients [22,23]. Our results were in agreement with the result of Kannan et al study and Hassan et al study that revealed the highest frequency in type 1 GT (64% and 86%) followed by type 3 GT (24% and 11%) [24,25].…”

“…No correlation between the levels of GP IIb/IIIa and severity of bleeding was reported [7,21]. In a study by Kutlubay et al in 2012, out of 15 Turkish GT cases 7, 6 and 2 of the patients were compatible with type 1, type 2 and type 3, respectively [22]. In 2015, Tokgöz et al reported that out of 20 Turkish GT patients, 18 and 2 cases were compatible with type 1 and type 2, respectively [23].…”