Bernard-Soulier syndrome in a Turkish family.
This report describes the first Turkish family to be diagnosed with Bernard-Soulier syndrome. The family consists of nine members (two parents, three sons and four daughters). The parents were first cousins. The index case, a 22 year-old-man, had a history of haemorrhagic diathesis with thrombocytopenia, giant platelets in the peripheral blood smear and a prolonged bleeding time. Refractory idiopathic thrombocytopenic purpura had been diagnosed elsewhere and a splenectomy had been performed six months previously. Ristocetin agglutination of platelets was defective and flow cytometry analysis of platelet membrane glycoprotein showed markedly reduced expression of glycoprotein lb (2.1%). Bernard-Soulier syndrome was diagnosed. Increased mean platelet volume was found in both parents, one son and three daughters. The other son and daughter were normal.
Okan
V
V
Department of Internal Medicine, University of Gaziantep, School of Medicine, Turkey.
Araz
M
M
Camci
C
C
Aktaran
S
S
Sahin
A
A
Buyukberber
S
S
Bakir
K
K
Cakmak
E A
EA
D000328:Adult; D001606:Bernard-Soulier Syndrome / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D001779:Blood Coagulation Factors; D004844:Epistaxis / Q000209:etiology; D005260:Female; D005882:Gingival Diseases / Q000209:etiology; D006470:Hemorrhage / Q000209:etiology; D006801:Humans; D008297:Male; D008595:Menorrhagia / Q000209:etiology; D010375:Pedigree; D010976:Platelet Count; D012871:Skin Diseases / Q000209:etiology; D014421:Turkey / Q000208:ethnology
D001779:Blood Coagulation Factors