EPIDEMIOLOGY OF BERNARD SOULIER DISEASE
Abstract number: P-S-195
Faranoush1 M., Ala2 F., Vossough3 P., Rastegarlari4 G., Jazebi5 M., Shahshaahani5 T., Hejazi4 S., Alavitoosi6 J., Hedayatiasl3 A.
11Pediatric Hematology and Oncology, Semnan University of Medical Sciences 22Hematology, Comprehensive Hemophilia Care Center (CHCC) 33Pediatric Hematology and Oncology, IUMS 44Molecular Genetic 55Hematology, CHCC 66Pathology, Semnan University of Medical Sciences, Tehran, Iran (Islamic Republic of)
How-to-cite Faranoush M, Ala F, Vossough P, Rastegarlari G, Jazebi M, Shahshaahani T, Hejazi S, Alavitoosi J, Hedayatiasl A. EPIDEMIOLOGY OF BERNARD SOULIER DISEASE. J Thromb Haemost 2007; 5 Supplement 2: P-S-195
Introduction: Bernard Soulier Syndrome (BSS) is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant platelets, and a tendency toward bleeding. The underlying biochemical defect is the absent or decreased expression of the glycoprotein Ib/IX/V complex on the surface of platelets.
Methods: This retrospective case review analysis was conducted on 23 patients registered at the Comprehensive Hemophilia Care Center and Ali-Asghar Children's Hospital. We tested blood samples for blood count, blood group, Rh.D, platelet aggregation,PT, aPTT,factor XIII, PFA100.
Results: Mean age of patients was 18.8 11.07years.13patients were female and 10 patients were male. The most common presenting signs according to frequency were epistaxis 43.5%, bleeding after trauma 21.7%, bleeding after dental procedure 17.4%, ecchymosis 8.7%, menorrhagia 4.3% and other presentations 4.3%.Consanguinity between parents was 73.9%.At follow-up 25% of the patients had been transfused at least once to control hemorrhagic episodes. The mean bleeding time and platelet count were 23.474.1 minutes and 7508624207 respectively. The mean prothrombin time was 9.910.59 seconds which is significantly lower than the normal population (r=0.01).Blood group in 73.9% of patients was B, 17.4% A and 8.7% O. There is a strong correlation between B blood group and BSS compared to the general population (r=0.01).
Conclusions: BSS is a rare but fascinating disorder. The continued analysis of the phenotypic, molecular and genetic defects in BSS should provide further information for diagnosis and treatment.
References: 1. Savoia A; Balduini CL; Savino M; Noris P; Del Vecchio M; Perrotta S; Belletti S; Poggi; Iolascon A;Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.Blood 2001 Mar 1;97(5):1330-5.
2. Lopez, JA, Andrews, RK, Afshar-Kharghan, V, Berndt, MC. Bernard-Soulier syndrome. Blood 1998; 91:4397.