Glanzmann Thrombasthenia: A Clinicopathological Profile.

OBJECTIVE To describe the clinical presentation of patients with Glanzmann's thrombasthenia (GT) and evaluate their diagnostic, clinical, and laboratory parameters including platelet aggregometry. STUDY DESIGN Descriptive study. PLACE AND DURATION OF STUDY Department of Hematology and Blood Transfusion, The Children Hospital and Institute of Child Health, Lahore, from January 2006 to December 2013. METHODOLOGY Patients presenting with mucocutaneous bleeding during study period and evaluated for diagnosis of inherited platelet function disorder, were included. Clinical data and family history were recorded. Laboratory investigations including complete blood count (CBC), peripheral blood smear (PBS), bleeding time (BT), activated partial thromboplastin time (APTT), prothrombin time (PT), and platelet aggregation studies were evaluated. RESULTS Among 796 patients, 163 (20.4%) patients were diagnosed with Glanzmann's thrombasthenia. The male to female ratio was 1.2:1. Their mean age was 7 ±2.5 years ranging from 3 months to 35 years. Consanguinity was observed in 65% patients. Common presenting symptoms included easy bruisibility (76.6%), gum bleeding (56.4%), epistaxis (62.5%), and prolonged bleeding after injury (47.2%). Bleeding time was prolonged in 92%. Platelet aggregation studies showed decreased aggregation with ADP, Collagen and Epinephrine in 100% of these patients and 9.2% showed decreased aggregation with Ristocetin also. CONCLUSION Glanzmann thrombasthenia was seen in a substantial number of patients (20.4%), possibly due to consanguineous marriages. GTpatients presented from early age to adulthood and raised awareness hoping to help in early diagnosis and more appropriate management. Extensive collaborated studies are needed to predict the true incidence of GTin Pakistan.