Abdulrahman Alshalani, L. van Manen, M. Boshuizen, R. van Bruggen, J. Acker, N. Juffermans
Background: Observational studies suggest that sex-mismatched transfusion is associated with increased mortality. Mechanisms driving mortality are not known but may include endothelial activation. The aim of this study is to investigate the effects of sex-mismatched red blood cell (RBC) transfusions on endothelial cell activation markers in critically ill patients. Study Design and Methods: In patients admitted to the intensive care unit who received a single RBC unit, blood samples were drawn before (T0), 1 h after (T1), and 24 h after transfusion (T24) for analysis of soluble syndecan-1, soluble intercellular adhesion molecule-1, soluble thrombomodulin (sTM), von Willebrand factor antigen, interleukin-6 (IL-6), and tumor necrosis factor-alpha (TNFα). Changes in the levels of these factors were compared between sex-matched and sex-mismatched groups. Results: Of 69 included patients, 32 patients were in the sex-matched and 37 patients were in the sex-mismatched group. Compared to baseline, sex-matched transfusion was associated with significant reduction in sTM level (p value = 0.03). Between-group comparison showed that levels of syndecan-1 and sTM were significantly higher in the sex-mismatched group compared to the sex-matched group at T24 (p value = 0.04 and 0.01, respectively). Also, TNFα and IL-6 levels showed a statistically marginal significant increase compared to baseline in the sex-mismatched group at T24 (p value = 0.06 and 0.05, respectively), but not in the sex-matched group. Discussion: Transfusion of a single sex-mismatched RBC unit was associated with higher syndecan-1 and sTM levels compared to transfusion of sex-matched RBC unit. These findings may suggest that sex-mismatched RBC transfusion is associated with endothelial activation.
{"title":"The Effect of Sex-Mismatched Red Blood Cell Transfusion on Endothelial Cell Activation in Critically Ill Patients","authors":"Abdulrahman Alshalani, L. van Manen, M. Boshuizen, R. van Bruggen, J. Acker, N. Juffermans","doi":"10.1159/000520651","DOIUrl":"https://doi.org/10.1159/000520651","url":null,"abstract":"Background: Observational studies suggest that sex-mismatched transfusion is associated with increased mortality. Mechanisms driving mortality are not known but may include endothelial activation. The aim of this study is to investigate the effects of sex-mismatched red blood cell (RBC) transfusions on endothelial cell activation markers in critically ill patients. Study Design and Methods: In patients admitted to the intensive care unit who received a single RBC unit, blood samples were drawn before (T0), 1 h after (T1), and 24 h after transfusion (T24) for analysis of soluble syndecan-1, soluble intercellular adhesion molecule-1, soluble thrombomodulin (sTM), von Willebrand factor antigen, interleukin-6 (IL-6), and tumor necrosis factor-alpha (TNFα). Changes in the levels of these factors were compared between sex-matched and sex-mismatched groups. Results: Of 69 included patients, 32 patients were in the sex-matched and 37 patients were in the sex-mismatched group. Compared to baseline, sex-matched transfusion was associated with significant reduction in sTM level (p value = 0.03). Between-group comparison showed that levels of syndecan-1 and sTM were significantly higher in the sex-mismatched group compared to the sex-matched group at T24 (p value = 0.04 and 0.01, respectively). Also, TNFα and IL-6 levels showed a statistically marginal significant increase compared to baseline in the sex-mismatched group at T24 (p value = 0.06 and 0.05, respectively), but not in the sex-matched group. Discussion: Transfusion of a single sex-mismatched RBC unit was associated with higher syndecan-1 and sTM levels compared to transfusion of sex-matched RBC unit. These findings may suggest that sex-mismatched RBC transfusion is associated with endothelial activation.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"98 - 106"},"PeriodicalIF":2.2,"publicationDate":"2021-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47289700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction: Circular RNA (circRNA) plays an important role in regulating metabolism of red blood cells (RBCs) and their storage lesions, but the study of how circRNA expression changes in stored RBCs has rarely been conducted. Methods: The expression change of circRNA was systemically evaluated via high-throughput sequencing on healthy RBCs on day 0, 20, and 40. And then we confirmed the reliability of the high-throughput sequencing analysis by RT-qPCR characterization on selected circRNAs. A higher parental gene enrichment was used to explore circRNA function in pathways. In addition, we deciphered a dysregulated circRNA-related ceRNAs network, and identified three circRNA-miRNA-mRNA regulatory axes related to storage lesion. Results: We identified 2,586 known and 6,216 putative novel circRNAs, more than 100 circRNAs expression levels were shifted, and the number of downregulated circRNAs was greater with longer storage time. Furthermore, a higher parental gene enrichment related to circRNA was found in pathways, including cAMP signaling pathway, ubiquitin-mediated proteolysis, apoptosis, adhesion, MAPK signaling pathway, cystine methionine metabolism, RNA degradation, RNA transport, TGF-β, and actin regulatory pathway. hsa_circ_0007127-miR-513a-5p-SMAD4, hsa_circ_0000033-miR-19a-3p-VAMP3, and hsa_circ_0005546-miR-4720-CCND3 regulatory axes related to storage lesion was found. Conclusions: Through investigation in circRNAs profile and circRNA-miRNA-mRNA interactions, this study provides insights on stored RBC circRNA expression changes, which closely relate to the storage lesion of RBCs and their physiological functions.
{"title":"Profiling and Bioinformatics Analysis Revealing Differential Circular RNA Expression about Storage Lesion Regulatory in Stored Red Blood Cells","authors":"Yiyu Zhang, Guoqing Huang, Zhaohu Yuan, Yonggang Zhang, Xiaojie Chen, Jianyun Huang, Nan Li, Zhen Liu, W. Zhong, Huikang Huang, Canze Huang, Yaming Wei","doi":"10.1159/000519626","DOIUrl":"https://doi.org/10.1159/000519626","url":null,"abstract":"Introduction: Circular RNA (circRNA) plays an important role in regulating metabolism of red blood cells (RBCs) and their storage lesions, but the study of how circRNA expression changes in stored RBCs has rarely been conducted. Methods: The expression change of circRNA was systemically evaluated via high-throughput sequencing on healthy RBCs on day 0, 20, and 40. And then we confirmed the reliability of the high-throughput sequencing analysis by RT-qPCR characterization on selected circRNAs. A higher parental gene enrichment was used to explore circRNA function in pathways. In addition, we deciphered a dysregulated circRNA-related ceRNAs network, and identified three circRNA-miRNA-mRNA regulatory axes related to storage lesion. Results: We identified 2,586 known and 6,216 putative novel circRNAs, more than 100 circRNAs expression levels were shifted, and the number of downregulated circRNAs was greater with longer storage time. Furthermore, a higher parental gene enrichment related to circRNA was found in pathways, including cAMP signaling pathway, ubiquitin-mediated proteolysis, apoptosis, adhesion, MAPK signaling pathway, cystine methionine metabolism, RNA degradation, RNA transport, TGF-β, and actin regulatory pathway. hsa_circ_0007127-miR-513a-5p-SMAD4, hsa_circ_0000033-miR-19a-3p-VAMP3, and hsa_circ_0005546-miR-4720-CCND3 regulatory axes related to storage lesion was found. Conclusions: Through investigation in circRNAs profile and circRNA-miRNA-mRNA interactions, this study provides insights on stored RBC circRNA expression changes, which closely relate to the storage lesion of RBCs and their physiological functions.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"76 - 87"},"PeriodicalIF":2.2,"publicationDate":"2021-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44039198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dear Editor, We read with great interest the meta-analysis by Zhang et al. [1] comparing the effects of two transfusion strategies in critically ill patients. The authors conclude that the restrictive transfusion strategy potentially reduced in-hospital mortality in critically ill adults as compared with a more liberal strategy. Unfortunately, we have several concerns in regard to this study and its results. First of all, as per the inclusion criteria stated by the authors, the meta-analysis focused on trials reporting mortality in critically ill adults receiving restrictive or liberal red-cell transfusion. The authors decided to include only critically ill patients with hemoglobin concentrations of 90 g/L or less on admission. Considering such criteria, we note that they missed the study by Mazza et al. [2] conducted in septic shock patients; conversely, they included the study by Mazer et al. [3] where the authors included patients with baseline values of hemoglobin over 130 g/L. Nonetheless, mild errors in inclusion of studies may happen [4], and our colleagues did a very hard work when screening studies from a huge literature search. Importantly, by strictly limiting the inclusion of studies according to the hemoglobin levels on admission, at least five important trials conducted in a cardiac surgery population [5–7] and in patients with traumatic brain injury [8, 9] were excluded by the meta-analysis. A second consideration that warrants further caution when interpreting the results of the meta-analysis [1] is the authors’ choice to perform a meta-analysis with a fixedeffects model, which assumes that the “true effect” is the same across studies. However, it is unlikely that all included studies have an identical or similar “true effect” due to the clinical heterogeneity of the included populations, ranging from all the critically ill patients admitted to intensive care to a more specific population (septic shock or patients undergoing cardiac surgery). More importantly, the fixed-effects model should not be used when there is statistical heterogeneity (I2) as in most of the forest plots of the meta-analysis by Zhang et al. [1]. In such cases, it is strongly advisable to use a randomeffects model, which better balances the weights of the included studies [10]. A third concern regards the authors’ decision to separate the analyses on the outcome of mortality into several endpoints. This resulted in 7 forest plots on the same outcome (mortality), but most of them included a very low number of studies (1–3 studies). For instance, the conclusion on a reduction of in-hospital mortality with a restrictive strategy seems rather hazardous as it is based on 2 studies only. With such a low number of included studies, it is difficult to interpret also the robustness of the results, considering that a trial sequential analysis has not been carried out [11]. In order to correct for all the above-mentioned concerns, we provide a forest plot including the
{"title":"Mortality in Critically Ill Patients Does Not Differ according to Transfusion Strategy","authors":"F. Sanfilippo, L. La Via, P. Murabito, M. Astuto","doi":"10.1159/000520476","DOIUrl":"https://doi.org/10.1159/000520476","url":null,"abstract":"Dear Editor, We read with great interest the meta-analysis by Zhang et al. [1] comparing the effects of two transfusion strategies in critically ill patients. The authors conclude that the restrictive transfusion strategy potentially reduced in-hospital mortality in critically ill adults as compared with a more liberal strategy. Unfortunately, we have several concerns in regard to this study and its results. First of all, as per the inclusion criteria stated by the authors, the meta-analysis focused on trials reporting mortality in critically ill adults receiving restrictive or liberal red-cell transfusion. The authors decided to include only critically ill patients with hemoglobin concentrations of 90 g/L or less on admission. Considering such criteria, we note that they missed the study by Mazza et al. [2] conducted in septic shock patients; conversely, they included the study by Mazer et al. [3] where the authors included patients with baseline values of hemoglobin over 130 g/L. Nonetheless, mild errors in inclusion of studies may happen [4], and our colleagues did a very hard work when screening studies from a huge literature search. Importantly, by strictly limiting the inclusion of studies according to the hemoglobin levels on admission, at least five important trials conducted in a cardiac surgery population [5–7] and in patients with traumatic brain injury [8, 9] were excluded by the meta-analysis. A second consideration that warrants further caution when interpreting the results of the meta-analysis [1] is the authors’ choice to perform a meta-analysis with a fixedeffects model, which assumes that the “true effect” is the same across studies. However, it is unlikely that all included studies have an identical or similar “true effect” due to the clinical heterogeneity of the included populations, ranging from all the critically ill patients admitted to intensive care to a more specific population (septic shock or patients undergoing cardiac surgery). More importantly, the fixed-effects model should not be used when there is statistical heterogeneity (I2) as in most of the forest plots of the meta-analysis by Zhang et al. [1]. In such cases, it is strongly advisable to use a randomeffects model, which better balances the weights of the included studies [10]. A third concern regards the authors’ decision to separate the analyses on the outcome of mortality into several endpoints. This resulted in 7 forest plots on the same outcome (mortality), but most of them included a very low number of studies (1–3 studies). For instance, the conclusion on a reduction of in-hospital mortality with a restrictive strategy seems rather hazardous as it is based on 2 studies only. With such a low number of included studies, it is difficult to interpret also the robustness of the results, considering that a trial sequential analysis has not been carried out [11]. In order to correct for all the above-mentioned concerns, we provide a forest plot including the ","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"62 - 64"},"PeriodicalIF":2.2,"publicationDate":"2021-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48858458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Front & Back Matter","authors":"G. Bein","doi":"10.1159/000519987","DOIUrl":"https://doi.org/10.1159/000519987","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47422669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
information@karger.com www.karger.com eignisse mehr hatten [2] und diese Patienten insgesamt über eine bessere Lebensqualität berichteten [3]. Aus Sicht der erfahrenen Hämostaseologin ist eine Blutungsfreiheit («Zero Bleeds») ein realistisches Therapieziel, das Hämophilie-A-Patienten und das Behandlungsteam unbedingt anstreben sollten, weil es die Lebensqualität von Patienten mit Hämophilie A deutlich verbessern kann.
{"title":"«Zero Bleeds» – realistisches Behandlungsziel bei Hämophilie A","authors":"Amy L. Dunn","doi":"10.1159/000519809","DOIUrl":"https://doi.org/10.1159/000519809","url":null,"abstract":"information@karger.com www.karger.com eignisse mehr hatten [2] und diese Patienten insgesamt über eine bessere Lebensqualität berichteten [3]. Aus Sicht der erfahrenen Hämostaseologin ist eine Blutungsfreiheit («Zero Bleeds») ein realistisches Therapieziel, das Hämophilie-A-Patienten und das Behandlungsteam unbedingt anstreben sollten, weil es die Lebensqualität von Patienten mit Hämophilie A deutlich verbessern kann.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"48 1","pages":"316 - 318"},"PeriodicalIF":2.2,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47104755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Caroline Mangare, Sabine Tischer-Zimmermann, Agnes Bonifacius, Sebastian B. Riese, A. Dragon, R. Blasczyk, B. Maecker-Kolhoff, B. Eiz-Vesper
Introduction: Viral infections and reactivations still remain a cause of morbidity and mortality after hematopoietic stem cell transplantation due to immunodeficiency and immunosuppression. Transfer of unmanipulated donor-derived lymphocytes (DLI) represents a promising strategy for improving cellular immunity but carries the risk of graft versus host disease (GvHD). Depleting alloreactive naïve T cells (TN) from DLIs was implemented to reduce the risk of GvHD induction while preserving antiviral memory T-cell activity. Here, we compared two TN depletion strategies via CD45RA and CD62L expression and investigated the presence of antiviral memory T cells against human adenovirus (AdV) and Epstein-Barr virus (EBV) in the depleted fractions in relation to their functional and immunophenotypic characteristics. Methods: T-cell responses against ppEBV_EBNA1, ppEBV_Consensus and ppAdV_Hexon within TN-depleted (CD45RA−/CD62L−) and TN-enriched (CD45RA+/CD62L+) fractions were quantified by interferon-gamma (IFN-γ) ELISpot assay after short- and long-term in vitro stimulation. T-cell frequencies and immunophenotypic composition were assessed in all fractions by flow cytometry. Moreover, alloimmune T-cell responses were evaluated by mixed lymphocyte reaction. Results: According to differences in the phenotype composition, antigen-specific T-cell responses in CD45RA− fraction were up to 2 times higher than those in the CD62L− fraction, with the highest increase (up to 4-fold) observed after 7 days for ppEBV_EBNA1-specific T cells. The CD4+ effector memory T cells (TEM) were mainly responsible for EBV_EBNA1- and AdV_Hexon-specific T-cell responses, whereas the main functionally active T cells against ppEBV_Consensus were CD8+ central memory T cells (TCM) and TEM. Moreover, comparison of both depletion strategies indicated that alloreactivity in CD45RA− was lower than that in CD62L− fraction. Conclusion: Taken together, our results indicate that CD45RA depletion is a more suitable strategy for generating TN-depleted products consisting of memory T cells against ppEBV_EBNA1 and ppAdV_Hexon than CD62L in terms of depletion effectiveness, T-cell functionality and alloreactivity. To maximally exploit the beneficial effects mediated by antiviral memory T cells in TN-depleted products, depletion methods should be selected individually according to phenotype composition and CD4/CD8 antigen restriction. TN-depleted DLIs may improve the clinical outcome in terms of infections, GvHD, and disease relapse if selection of pathogen-specific donor T cells is not available.
{"title":"Variances in Antiviral Memory T-Cell Repertoire of CD45RA- and CD62L-Depleted Lymphocyte Products Reflect the Need of Individual T-Cell Selection Strategies to Reduce the Risk of GvHD while Preserving Antiviral Immunity in Adoptive T-Cell Therapy","authors":"Caroline Mangare, Sabine Tischer-Zimmermann, Agnes Bonifacius, Sebastian B. Riese, A. Dragon, R. Blasczyk, B. Maecker-Kolhoff, B. Eiz-Vesper","doi":"10.1159/000516284","DOIUrl":"https://doi.org/10.1159/000516284","url":null,"abstract":"Introduction: Viral infections and reactivations still remain a cause of morbidity and mortality after hematopoietic stem cell transplantation due to immunodeficiency and immunosuppression. Transfer of unmanipulated donor-derived lymphocytes (DLI) represents a promising strategy for improving cellular immunity but carries the risk of graft versus host disease (GvHD). Depleting alloreactive naïve T cells (TN) from DLIs was implemented to reduce the risk of GvHD induction while preserving antiviral memory T-cell activity. Here, we compared two TN depletion strategies via CD45RA and CD62L expression and investigated the presence of antiviral memory T cells against human adenovirus (AdV) and Epstein-Barr virus (EBV) in the depleted fractions in relation to their functional and immunophenotypic characteristics. Methods: T-cell responses against ppEBV_EBNA1, ppEBV_Consensus and ppAdV_Hexon within TN-depleted (CD45RA−/CD62L−) and TN-enriched (CD45RA+/CD62L+) fractions were quantified by interferon-gamma (IFN-γ) ELISpot assay after short- and long-term in vitro stimulation. T-cell frequencies and immunophenotypic composition were assessed in all fractions by flow cytometry. Moreover, alloimmune T-cell responses were evaluated by mixed lymphocyte reaction. Results: According to differences in the phenotype composition, antigen-specific T-cell responses in CD45RA− fraction were up to 2 times higher than those in the CD62L− fraction, with the highest increase (up to 4-fold) observed after 7 days for ppEBV_EBNA1-specific T cells. The CD4+ effector memory T cells (TEM) were mainly responsible for EBV_EBNA1- and AdV_Hexon-specific T-cell responses, whereas the main functionally active T cells against ppEBV_Consensus were CD8+ central memory T cells (TCM) and TEM. Moreover, comparison of both depletion strategies indicated that alloreactivity in CD45RA− was lower than that in CD62L− fraction. Conclusion: Taken together, our results indicate that CD45RA depletion is a more suitable strategy for generating TN-depleted products consisting of memory T cells against ppEBV_EBNA1 and ppAdV_Hexon than CD62L in terms of depletion effectiveness, T-cell functionality and alloreactivity. To maximally exploit the beneficial effects mediated by antiviral memory T cells in TN-depleted products, depletion methods should be selected individually according to phenotype composition and CD4/CD8 antigen restriction. TN-depleted DLIs may improve the clinical outcome in terms of infections, GvHD, and disease relapse if selection of pathogen-specific donor T cells is not available.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"30 - 43"},"PeriodicalIF":2.2,"publicationDate":"2021-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45129966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S ISBN 978–3–318–06907–5 48 | S1 | 21 K ager Trafusion M eicine nd H em oterapy |
S ISBN 978-3-318-06907-5
{"title":"Front & Back Matter","authors":"N. Worel, Wien · Österreich, Gregor Bein","doi":"10.1159/000519477","DOIUrl":"https://doi.org/10.1159/000519477","url":null,"abstract":"S ISBN 978–3–318–06907–5 48 | S1 | 21 K ager Trafusion M eicine nd H em oterapy |","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47171128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"54. Jahrestagung der Deutschen Gesellschaft für Transfusionsmedizin und Immunhämatologie (DGTI), 22.–24. September 2021, DIGITAL, Abstracts","authors":"","doi":"10.1159/000518751","DOIUrl":"https://doi.org/10.1159/000518751","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"48 1","pages":"1 - 79"},"PeriodicalIF":2.2,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47392746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01DOI: 10.11129/9783955535070-001
{"title":"Vorspann","authors":"","doi":"10.11129/9783955535070-001","DOIUrl":"https://doi.org/10.11129/9783955535070-001","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"48 1","pages":"I - II"},"PeriodicalIF":2.2,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46680508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tae Yeul Kim, HongBi Yu, M. Phan, Ja-Hyun Jang, D. Cho
Background: Next-generation sequencing (NGS) technology has been recently introduced into blood group genotyping; however, there are few studies using NGS-based blood group genotyping in real-world clinical settings. In this study, we applied NGS-based blood group genotyping into various immunohaematology cases encountered in routine clinical practice. Methods: This study included 4 immunohaematology cases: ABO subgroup, ABO chimerism, antibody to a high-frequency antigen (HFA), and anti-CD47 interference. We designed a hybridization capture-based NGS panel targeting 39 blood group-related genes and applied it to the 4 cases. Results: NGS analysis revealed a novel intronic variant (NM_020469.3:c.29-10T>G) in a patient with an Ael phenotype and detected a small fraction of ABO*A1.02 (approximately 3–6%) coexisting with the major genotype ABO*B.01/O.01.02 in dizygotic twins. In addition, NGS analysis found a homozygous stop-gain variant (NM_004827.3:c.376C>T, p.Gln126*; ABCG2*01N.01) in a patient with an antibody to an HFA; consequently, this patient’s phenotype was predicted as Jr(a−). Lastly, blood group phenotypes predicted by NGS were concordant with those determined by serology in 2 patients treated with anti-CD47 drugs. Conclusion: NGS-based blood group genotyping can be used for identifying ABO subgroup alleles, low levels of blood group chimerism, and antibodies to HFAs. Furthermore, it can be applied to extended blood group antigen matching for patients treated with anti-CD47 drugs.
背景:新一代测序(NGS)技术最近被引入血型基因分型;然而，在现实世界的临床环境中使用基于ngs的血型基因分型的研究很少。在本研究中，我们将基于ngs的血型基因分型应用于临床常规遇到的各种免疫血液学病例。方法:选取4例免疫血液学病例:ABO亚群、ABO嵌合、高频抗原抗体(HFA)和抗cd47干扰。我们设计了一个基于杂交捕获的NGS面板，针对39个血型相关基因，并应用于4例。结果:NGS分析在el表型患者中发现了一个新的内含子变异(NM_020469.3:c.29-10T>G)，并在异卵双胞胎中检测到一小部分ABO*A1.02(约3-6%)与ABO*B.01/O.01.02共存。此外，NGS分析还发现了一个纯合的停止增益变异(NM_004827.3:c)。376 c > T, p.Gln126 *;HFA抗体患者的ABCG2*01N.01);因此，该患者的表型预测为Jr(a−)。最后，2例使用抗cd47药物治疗的患者，NGS预测的血型表型与血清学结果一致。结论:基于ngs的血型基因分型可用于ABO亚群等位基因、低水平血型嵌合和hfa抗体的鉴定。此外，它还可以应用于抗cd47药物治疗患者的扩展血型抗原匹配。
{"title":"Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases","authors":"Tae Yeul Kim, HongBi Yu, M. Phan, Ja-Hyun Jang, D. Cho","doi":"10.1159/000517565","DOIUrl":"https://doi.org/10.1159/000517565","url":null,"abstract":"Background: Next-generation sequencing (NGS) technology has been recently introduced into blood group genotyping; however, there are few studies using NGS-based blood group genotyping in real-world clinical settings. In this study, we applied NGS-based blood group genotyping into various immunohaematology cases encountered in routine clinical practice. Methods: This study included 4 immunohaematology cases: ABO subgroup, ABO chimerism, antibody to a high-frequency antigen (HFA), and anti-CD47 interference. We designed a hybridization capture-based NGS panel targeting 39 blood group-related genes and applied it to the 4 cases. Results: NGS analysis revealed a novel intronic variant (NM_020469.3:c.29-10T>G) in a patient with an Ael phenotype and detected a small fraction of ABO*A1.02 (approximately 3–6%) coexisting with the major genotype ABO*B.01/O.01.02 in dizygotic twins. In addition, NGS analysis found a homozygous stop-gain variant (NM_004827.3:c.376C>T, p.Gln126*; ABCG2*01N.01) in a patient with an antibody to an HFA; consequently, this patient’s phenotype was predicted as Jr(a−). Lastly, blood group phenotypes predicted by NGS were concordant with those determined by serology in 2 patients treated with anti-CD47 drugs. Conclusion: NGS-based blood group genotyping can be used for identifying ABO subgroup alleles, low levels of blood group chimerism, and antibodies to HFAs. Furthermore, it can be applied to extended blood group antigen matching for patients treated with anti-CD47 drugs.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"88 - 97"},"PeriodicalIF":2.2,"publicationDate":"2021-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41655006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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