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Papers by Nataliya Smetanina
Haematologica
Publisher's Disclaimer. E-publishing ahead of print is increasingly important for the rapid disse... more Publisher's Disclaimer. E-publishing ahead of print is increasingly important for the rapid dissemination of science. Haematologica is, therefore, E-publishing PDF files of an early version of manuscripts that have completed a regular peer review and have been accepted for publication. E-publishing of this PDF file has been approved by the authors.
Pediatria. Journal named after G.N. Speransky, 2019
Pediatric Blood & Cancer, 2020
Pediatria. Journal named after G.N. Speransky, 2018
Scientific Reports, 2021
Immune thrombocytopenia (ITP) is believed to be associated with platelet function defects. Howeve... more Immune thrombocytopenia (ITP) is believed to be associated with platelet function defects. However, their mechanisms are poorly understood, in particular with regard to differences between ITP phases, patient age, and therapy. We investigated platelet function and bleeding in children with either persistent or chronic ITP, with or without romiplostim therapy. The study included 151 children with ITP, of whom 56 had disease duration less than 12 months (grouped together as acute/persistent) and 95 were chronic. Samples of 57 healthy children were used as controls, while 5 patients with leukemia, 5 with aplastic anemia, 4 with MYH9-associated thrombocytopenia, and 7 with Wiskott-Aldrich syndrome were used as non-ITP thrombocytopenia controls. Whole blood flow cytometry revealed that platelets in both acute/persistent and chronic ITP were increased in size compared with healthy donors. They were also pre-activated as assessed by PAC1, CD62p, cytosolic calcium, and procoagulant platelet...
Acta Haematologica, 2009
We report the identification of an Hb S homozygosity in a 29-year-old multiple-transfused patient... more We report the identification of an Hb S homozygosity in a 29-year-old multiple-transfused patient with severe kidney disease using a new reverse-transcription polymerase chain reaction (RT-PCR) technique with mRNA as starting template. The procedure requires considerably less time than sequencing of genomic DNA and is recommended for use in the diagnosis of Hb S and other hemoglobinopathies.
Pediatric Blood & Cancer, 2015
Background-Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopa... more Background-Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopathy and inherited bone marrow failure syndrome characterized by anemia, reticulocytopenia and decreased erythroid precursors in the bone marrow with an increased risk of malignancy and in approximately 50%, physical abnormalities. Methods-We retrospectively analyzed clinical data from 77 patients with DBA born in the Russian Federation from 1993-2014. In 74 families there was one clinically affected individual; in only three instances a multiplex family was identified. Genomic DNA from 57 DBA patients and their first-degree relatives was sequenced for mutations in RPS19,
Pediatria. Journal named after G.N. Speransky, 2022
Gaucher disease (GD) is an autosomal recessive disease that leads to excessive accumulation of gl... more Gaucher disease (GD) is an autosomal recessive disease that leads to excessive accumulation of glucocerebroside in the cells of the reticuloendothelial system, which leads to multiple organ damage with the development of cytopenia, hepatosplenomegaly, bone and neurological pathology. An effective and safe enzyme replacement therapy has been developed for the treatment of GD. However, there are rare cases of hypersensitivity reactions presented in the literature, requiring individualization of patient management with the search for alternative ways to continue therapy and prevent side effects. We present a rare clinical case of intolerance to imiglucerase and velaglucerase alfa in a child with GD type 3 and possible methods for continuing treatment, taking into account the hypersensitivity reaction.
Pediatric Blood & Cancer
Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, associated with mutat... more Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, associated with mutations in ribosomal protein (RP) genes. Growing data on mutations in non‐RP genes in patients with DBA‐like phenotype became available over recent years. We describe two patients with the phenotype of DBA (onset of macrocytic anemia within the first year of life, paucity of erythroid precursors in bone marrow) and germline de novo variants in the TP53 gene. Both patients became transfusion independent, probably due to L‐leucine therapy. The possible role of TP53 variants should be considered in patients with DBA‐like phenotype and no mutations in RP genes.
Terapevticheskiĭ arkhiv, 2003
Klinicheskaia laboratornaia diagnostika, 2003
Measurements of the form and size of erythrocytes are needed in the diagnosis of a number of dise... more Measurements of the form and size of erythrocytes are needed in the diagnosis of a number of diseases. However, such measurements, if made manually, are a labor-consuming and often inaccurate method, which ensures the determination of a very limited number of parameters. Hardware/software unit MEKOS-C1 enables an automated examination of blood smear, thus speeding up significantly the analysis and ensuring a more complete and accurate information. The possibilities of unit MEKOS-C1 were evaluated for the diagnosis of ovalocytosis. Blood smears of 19 patients from the Russian Pediatric Clinical Hospital, including 8 patients with inherited ovalocytosis, 1 patient with spherocytic ovalocytosis and 10 patients without the disease, were made use of Erythrocytes were isolated in the images of preparations and the contour of each cell was approximated by ellipse. The ratio between ellipse semi-axes served as a measure of erythrocytes' ovality. The mean ratio of semi-axes (RS) and the ...
Hemoglobin, 1997
Using a polymerase chain reaction procedure we have identified the 3.7 kb alpha-thalassemia-2 del... more Using a polymerase chain reaction procedure we have identified the 3.7 kb alpha-thalassemia-2 deletion in the DNA that was isolated from slides of blood smears stained with Wright's stain some 20 years ago. Details about the procedure are presented. The success of this approach depends entirely on the amount of DNA that could be isolated; thick smears always gave good data provided they were not covered with immersion oil. The success rate in this study was 45%.
Haematologica
Publisher's Disclaimer. E-publishing ahead of print is increasingly important for the rapid disse... more Publisher's Disclaimer. E-publishing ahead of print is increasingly important for the rapid dissemination of science. Haematologica is, therefore, E-publishing PDF files of an early version of manuscripts that have completed a regular peer review and have been accepted for publication. E-publishing of this PDF file has been approved by the authors.
Pediatria. Journal named after G.N. Speransky, 2019
Pediatric Blood & Cancer, 2020
Pediatria. Journal named after G.N. Speransky, 2018
Scientific Reports, 2021
Immune thrombocytopenia (ITP) is believed to be associated with platelet function defects. Howeve... more Immune thrombocytopenia (ITP) is believed to be associated with platelet function defects. However, their mechanisms are poorly understood, in particular with regard to differences between ITP phases, patient age, and therapy. We investigated platelet function and bleeding in children with either persistent or chronic ITP, with or without romiplostim therapy. The study included 151 children with ITP, of whom 56 had disease duration less than 12 months (grouped together as acute/persistent) and 95 were chronic. Samples of 57 healthy children were used as controls, while 5 patients with leukemia, 5 with aplastic anemia, 4 with MYH9-associated thrombocytopenia, and 7 with Wiskott-Aldrich syndrome were used as non-ITP thrombocytopenia controls. Whole blood flow cytometry revealed that platelets in both acute/persistent and chronic ITP were increased in size compared with healthy donors. They were also pre-activated as assessed by PAC1, CD62p, cytosolic calcium, and procoagulant platelet...
Acta Haematologica, 2009
We report the identification of an Hb S homozygosity in a 29-year-old multiple-transfused patient... more We report the identification of an Hb S homozygosity in a 29-year-old multiple-transfused patient with severe kidney disease using a new reverse-transcription polymerase chain reaction (RT-PCR) technique with mRNA as starting template. The procedure requires considerably less time than sequencing of genomic DNA and is recommended for use in the diagnosis of Hb S and other hemoglobinopathies.
Pediatric Blood & Cancer, 2015
Background-Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopa... more Background-Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopathy and inherited bone marrow failure syndrome characterized by anemia, reticulocytopenia and decreased erythroid precursors in the bone marrow with an increased risk of malignancy and in approximately 50%, physical abnormalities. Methods-We retrospectively analyzed clinical data from 77 patients with DBA born in the Russian Federation from 1993-2014. In 74 families there was one clinically affected individual; in only three instances a multiplex family was identified. Genomic DNA from 57 DBA patients and their first-degree relatives was sequenced for mutations in RPS19,
Pediatria. Journal named after G.N. Speransky, 2022
Gaucher disease (GD) is an autosomal recessive disease that leads to excessive accumulation of gl... more Gaucher disease (GD) is an autosomal recessive disease that leads to excessive accumulation of glucocerebroside in the cells of the reticuloendothelial system, which leads to multiple organ damage with the development of cytopenia, hepatosplenomegaly, bone and neurological pathology. An effective and safe enzyme replacement therapy has been developed for the treatment of GD. However, there are rare cases of hypersensitivity reactions presented in the literature, requiring individualization of patient management with the search for alternative ways to continue therapy and prevent side effects. We present a rare clinical case of intolerance to imiglucerase and velaglucerase alfa in a child with GD type 3 and possible methods for continuing treatment, taking into account the hypersensitivity reaction.
Pediatric Blood & Cancer
Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, associated with mutat... more Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, associated with mutations in ribosomal protein (RP) genes. Growing data on mutations in non‐RP genes in patients with DBA‐like phenotype became available over recent years. We describe two patients with the phenotype of DBA (onset of macrocytic anemia within the first year of life, paucity of erythroid precursors in bone marrow) and germline de novo variants in the TP53 gene. Both patients became transfusion independent, probably due to L‐leucine therapy. The possible role of TP53 variants should be considered in patients with DBA‐like phenotype and no mutations in RP genes.
Terapevticheskiĭ arkhiv, 2003
Klinicheskaia laboratornaia diagnostika, 2003
Measurements of the form and size of erythrocytes are needed in the diagnosis of a number of dise... more Measurements of the form and size of erythrocytes are needed in the diagnosis of a number of diseases. However, such measurements, if made manually, are a labor-consuming and often inaccurate method, which ensures the determination of a very limited number of parameters. Hardware/software unit MEKOS-C1 enables an automated examination of blood smear, thus speeding up significantly the analysis and ensuring a more complete and accurate information. The possibilities of unit MEKOS-C1 were evaluated for the diagnosis of ovalocytosis. Blood smears of 19 patients from the Russian Pediatric Clinical Hospital, including 8 patients with inherited ovalocytosis, 1 patient with spherocytic ovalocytosis and 10 patients without the disease, were made use of Erythrocytes were isolated in the images of preparations and the contour of each cell was approximated by ellipse. The ratio between ellipse semi-axes served as a measure of erythrocytes' ovality. The mean ratio of semi-axes (RS) and the ...
Hemoglobin, 1997
Using a polymerase chain reaction procedure we have identified the 3.7 kb alpha-thalassemia-2 del... more Using a polymerase chain reaction procedure we have identified the 3.7 kb alpha-thalassemia-2 deletion in the DNA that was isolated from slides of blood smears stained with Wright's stain some 20 years ago. Details about the procedure are presented. The success of this approach depends entirely on the amount of DNA that could be isolated; thick smears always gave good data provided they were not covered with immersion oil. The success rate in this study was 45%.