Platelet hemostatic disorders: how to reach a diagnosis?
E. V. Yakovleva,
D. V. Pavlenko,
V. N. Dvirnyk,
Zh. V. Tratevskaya,
A. M. Kovrigina,
O. S. Pshenichnikova,
V. L. Surin,
J. M. Poznyakova,
E. V. Yushkova,
N. A. Podoplelova,
N. I. Zozulya https://doi.org/10.35754/0234-5730-2026-71-2-258-270
Abstract
Introduction. Thrombocytopenia can be primary or secondary and warrants differential diagnosis of hereditary functional platelet defects.
Aim: to present the difficulties of verifying the diagnosis in disorders of the platelet component of hemostasis.
Main findings. A clinical case of a 28-year old female patient is presented. The patient presented with a mild mucocutaneous hemorrhagic syndrome and moderate thrombocytopenia of a familial nature. All available routine and alternative methods for investigating platelet disorders were performed. Whole genome sequencing proved to be a crucial diagnostic method. This genetic analysis, in comparison with morphological and functional studies, is a promising tool for the differential diagnosis of heterogeneous platelet disorders.
About the Authors
E. V. Yakovleva
National Medical Research Center for Hematology
Russian Federation
Russian Federation
Elena V. Yakovleva, Cand. Sci. (Med.), Hematologist, Clinical and Diagnostic Department of Hematology and Hemostasis Disorders
125167, Moscow
D. V. Pavlenko
National Medical Research Center for Hematology
Russian Federation
Russian Federation
Diana V. Pavlenko, Clinical Laboratory Diagnostic Doctor of the Centralized Clinical Diagnostic Laboratory
125167, Moscow
V. N. Dvirnyk
National Medical Research Center for Hematology
Russian Federation
Russian Federation
Valentina N. Dvirnyk, Cand. Sci. (Med.), Head of the Laboratory, Clinical Laboratory Diagnostics Physician at the Centralized Clinical and Diagnostic Laboratory
125167, Moscow
Zh. V. Tratevskaya
National Medical Research Center for Hematology
Russian Federation
Russian Federation
Zhanna V. Tratsevskaya, Cand. Sci. (Med.), Pathologist, Pathological Anatomy Department
125167, Moscow
A. M. Kovrigina
National Medical Research Center for Hematology
Russian Federation
Russian Federation
Alla M. Kovrigina, Dr. Sci. (Biol.), Head of the Pathology Department
125167, Moscow
O. S. Pshenichnikova
National Medical Research Center for Hematology
Russian Federation
Russian Federation
Olesya S. Pshenichnikova, Cand. Sci. (Biol.), Head of Laboratory of Genetic Engineering
125167, Moscow
V. L. Surin
National Medical Research Center for Hematology
Russian Federation
Russian Federation
Vadim L. Surin, Senior Researcher, Laboratory of Genetic Engineering
125167, Moscow
J. M. Poznyakova
National Medical Research Center for Hematology
Russian Federation
Russian Federation
Yulia M. Poznyakova, Leading Specialist, Genetic Diagnostics Support Team
125167, Moscow
E. V. Yushkova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology; Center “Modern methods of experimental biophysics” of the Center for Theoretical Problems of Physicochemical Pharmacology of the RAS
Russian Federation
Russian Federation
Eugenia V. Yushkova, Laboratory Assistant Researcher, the Laboratory of Cellular Hemostasis and Thrombosis; Postgraduate Student
117198, Moscow
109029, Moscow
N. A. Podoplelova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology; Center “Modern methods of experimental biophysics” of the Center for Theoretical Problems of Physicochemical Pharmacology of the RAS
Russian Federation
Russian Federation
Nadezhda A. Podoplelova, Cand. Sci. (Biol.), Leading researcher, the Laboratory of Cellular Hemostasis and Thrombosis; Head of Collective Use Center “Modern methods of experimental biophysics”
117198, Moscow
109029, Moscow
N. I. Zozulya
National Medical Research Center for Hematology
Russian Federation
Russian Federation
Nadezhda I. Zozulya, Dr. Sci. (Med.), Hematologist, Head of Clinical and Diagnostic Department of Hematology and Hemostasis Disorders
125167, Moscow
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Review
For citations:
Yakovleva E.V., Pavlenko D.V., Dvirnyk V.N., Tratevskaya Zh.V., Kovrigina A.M., Pshenichnikova O.S., Surin V.L., Poznyakova J.M., Yushkova E.V., Podoplelova N.A., Zozulya N.I. Platelet hemostatic disorders: how to reach a diagnosis? Russian journal of hematology and transfusiology. 2026;71(2):258-270. (In Russ.) https://doi.org/10.35754/0234-5730-2026-71-2-258-270
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