FEATURES OF DIAGNOSTICS OF BERNARD-SOULIER SYNDROME

被引：0

作者：

Kumskova, M. A. ^{[1
]}

Yastrubinetskayc, O., I ^{[1
]}

Likhachyova, E. A. ^{[1
]}

Vasiliev, S. A. ^{[1
]}

Dvirnyk, V. N. ^{[1
]}

Konyashina, N., I ^{[1
]}

Al-Radi, L. S. ^{[1
]}

Moiseeva, T. N. ^{[1
]}

Zozulya, N., I ^{[1
]}

机构：

[1] Natl Res Ctr Hematol, Moscow 125167, Russia

来源：

GEMATOLOGIYA I TRANSFUZIOLOGIYA | 2016年 / 61卷 / 04期

关键词：

Bernard Soulier syndrome; platelets; macrothrombocytopenia; inherited platelet disorders; platelet function; coagulopathy; hemostasis; PLATELET DISORDERS; GPIB-BETA;

D O I：

10.18821/0234-5730-2016-61-4-217-221

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Bernard Soulier syndrome (BSS) is the rare platelet disorder. It is caused by the deficiency or defect of the glycoprotein (GP) lb-IX-V complex on the surface of platelets - the main receptor for von Willebrand factor (vWF). Binding of vWF with GP lb-IX-V complex initiates primary hemostasis and provides platelets adhesion at the site of the injured blood vessel. Dissociation of plasma, vascular and thrombocytic hemostasis gives rise to the development of the microcirculatory or mixed hemorrhagic syndrome. The typical features of such types are considered in the clinical case of the BSS female patient. Diagnostic algorithm for BSS includes the evaluation of functional properties, morphology and biochemical characteristics of platelets with the compulsory use of flow cytometry, allowing to reveal the deficiency of GP lb-IX-V complex on the surface of platelets.

引用

页码：217 / 221

页数：5

共 25 条

[11] Bernard-Soulier syndrome: novel nonsense mutation in GPIbβ gene affecting GPIb-IX complex expression [J].