Diagnosis of Bernard Soulier Syndrome and Glanzmann’s Thrombasthenia in Iraqi Patients

Abstract

Background: Bernard–Soulier syndrome (BSS) and Glanzmann Thrombasthenia (GT) are rare inherited
platelet function disorders, defined by a permanent history of mucocutaneous bleeding. The objective of this
project was to identify biological and clinical characteristics of BSS and GT patients. Methodology: This
study included 52 patients with bleeding disorders, the clinical, haematological and demographic features
of patients were determined and the level of GpIIb/IIIa and GPIb/IX was assessed. Results: From a total of
52 patient, 20 were diagnosis with BSS (9 females and 11 males), their age range from 6 to 42 year and 23
diagnoses with GT (10 females and 13 males), their age range from 4 to 50 year. Epistaxis, easy bruising,
menorrhagia and ecchymosis were the most frequent symptoms. Prolonged bleeding time (BT), normal PT
and PTT were seen in all cases. Variable thrombocytopenia, large platelets with decreased GPIb/IX level
were seen in BSS patients, while the level of GPIIb/IIIa was decreased in GT cases. Conclusion: Since
BSS and GT are infrequent disorders diagnosis may be postponed, both diseases are combined with crucial
bleeding tendency, therefore earlier detection would have been important for patients management.