Diagnosis of Glanzmann’s thrombasthenia by assessment of plasma and platelet hemostatic parameters

M. A. Kumskova; Кумскова Мария Алексеевна; I. A. Demina; Дёмина Ирина Андреевна; N. A. Podoplelova; Подоплелова Надежда Александровна; A. N. Balandina; Баландина Анна Николаевна; E. A. Seregina; Серёгина Елена Александровна; E. V. Bondar; Бондар Елена Владимировна; A. V. Poletaev; Полетаев Александр Владимирович; N. I. Konyashina; Коняшина Надежда Ивановна; M. A. Panteleev; Пантелеев Михаил Александрович

doi:10.24287/1726-1708-2015-14-4-17-24

Diagnosis of Glanzmann’s thrombasthenia by assessment of plasma and platelet hemostatic parameters

Authors: Kumskova M.A.¹, Demina I.A.¹, Podoplelova N.A.¹, Balandina A.N.¹^,2, Seregina E.A.¹, Bondar E.V.¹, Poletaev A.V.¹, Konyashina N.I.¹^,2^,3, Panteleev M.A.¹
Affiliations:
1. Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
2. Center of Theoretical Problems of Physico-Chemical Pharmacology
3. Moscow State University named after M.V. Lomonosov
Issue: Vol 14, No 4 (2015)
Pages: 17-24
Section: CLINICAL OBSERVATIONS
Submitted: 19.09.2018
Published: 19.12.2015
URL: https://hemoncim.com/jour/article/view/118
DOI: https://doi.org/10.24287/1726-1708-2015-14-4-17-24
ID: 118

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Abstract

Glanzmann's thrombasthenia (GT) is a hereditary disorder referred to the group of thrombocytopathies. It develops as a result of abnormality in the platelet structural protein, leading to deficiency or dysfunction of membrane protein integrin aIIbß3. Clinically the disease is characterized by spontaneous and posttraumatic bleedings. A typical pattern of platelet aggregation in GT is the absence of aggregation with all agonists and normal response in the presence of ristocetin. A clinical case of GT is described: a boy aged 3 years 10 months with a characteristic clinical manifestation of the hemorrhagic syndrome. Stages in the disease diagnosis and results of laboratory assays of the hemostatic system are described in detail. In addition to evaluation of the platelet aggregation activity, the functional activity of these cells was assessed by flow cytometry, which showed reduction of integrin aIIbß3 - quantitative (76.4% lower expression of CD61 in assessment of non-activated platelets and 88% lower in assessment of activated platelets) and qualitative (34% lower expression of PAC1 in non-activated platelets and 79.3% lower in activated platelets) in comparison with healthy donors.

Keywords

дети, тромбастения Гланцмана, тромбоциты, агрегация, функция тромбоцитов, тромбоэластограмма, тромбодинамика, children, Glanzmann’s thrombasthenia, platelets, aggregation, platelet function, thromboelastogram, thrombodynamics

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Diagnosis of Glanzmann’s thrombasthenia by assessment of plasma and platelet hemostatic parameters

Full Text

Abstract

Keywords

About the authors

References

Supplementary files