Blood Transfusion最新文献

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Challenges in perioperative blood transfusions in kidney transplantation and the need for Patient Blood Management. 肾移植围手术期输血的挑战和患者血液管理的必要性。
IF 3.7 3区 医学
Blood Transfusion Pub Date : 2024-05-01 Epub Date: 2023-10-09 DOI: 10.2450/BloodTransfus.577
Diana Rodríguez-Espinosa, José J Broseta, Anney Rosario, Judit Cacho, Beatriz Tena, Elena Cuadrado-Payan, Ramsés Marrero, Beatriu Bayés, Nuria Esforzado, Mireia Musquera, Fritz Diekmann, Aleix Cases, Misericordia Basora
{"title":"Challenges in perioperative blood transfusions in kidney transplantation and the need for Patient Blood Management.","authors":"Diana Rodríguez-Espinosa, José J Broseta, Anney Rosario, Judit Cacho, Beatriz Tena, Elena Cuadrado-Payan, Ramsés Marrero, Beatriu Bayés, Nuria Esforzado, Mireia Musquera, Fritz Diekmann, Aleix Cases, Misericordia Basora","doi":"10.2450/BloodTransfus.577","DOIUrl":"10.2450/BloodTransfus.577","url":null,"abstract":"<p><strong>Background: </strong>Anemia is highly prevalent in end-stage chronic kidney disease patients, increasing their risk of receiving blood transfusions during and on the days after a kidney transplant (KTx) surgery. However, there is currently a lack of data that thoroughly describes this phenomenon in this population, the associated risk factors, and how they could benefit from the application of Patient Blood Management (PBM) guidelines.</p><p><strong>Materials and methods: </strong>Observational study. All adult patients who received a KTx between January 1<sup>st</sup>, 2020, and December 31<sup>st</sup>, 2021, were included and followed up to six months after transplantation. Those who received a multiorgan transplant, whose data was missing in the electronic health records, and who had primary non-function were excluded. We recorded donor and recipient characteristics, cold ischemia time, preoperative hemoglobin concentration, iron status deficiency biomarkers, incidence of delayed graft function and biopsy-proven graft rejections, and graft function at discharge and 6 months after transplantation.</p><p><strong>Results: </strong>We found that a high amount (39%) of KTx recipients required at least one blood transfusion during the perioperative period. And that 1) most of these patients had anemia at the time of transplantation (85.4%), 2) iron status upon admission was associated with the transfusion of more blood units (3.9 vs 2.7, p=0.019), 3) surgical reintervention (OR 7.28, 2.35-22.54) and deceased donor donation (OR 1.99, 1.24-3.21) were associated with an increased risk of transfusion, and finally, 4) there was an association between a higher number of blood units transfused and impaired kidney graft function six months after hospital discharge (1.6 vs 1.9, p=0.02).</p><p><strong>Conclusions: </strong>In conclusion, PBM guidelines should be applied to patients on the KTx deceased donor waiting list and especially those scheduled to receive a transplant from a living donor. This could potentially increase the utilization efficiency of blood products and avoid transfusion-related severe adverse effects.</p>","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"206-212"},"PeriodicalIF":3.7,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41240261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Knowledge, attitude and practice survey of bacterial contamination of blood for transfusion in the Democratic Republic of the Congo. 刚果民主共和国输血细菌污染的知识、态度和实践调查。
IF 3.7 3区 医学
Blood Transfusion Pub Date : 2024-05-01 Epub Date: 2023-11-17 DOI: 10.2450/BloodTransfus.586
Anne-Sophie Heroes, Paul Kabamba, Aimée Luyindula, Bernard Bongenya, Pierre Nzazi, Monica Nasali, Cathérine Akele, Marie-Paule Lusinga, John Ekofo, José Coene, Inge Van Cauwenberg, Philippe Vandekerckhove, Octavie Lunguya, Jan Jacobs
{"title":"Knowledge, attitude and practice survey of bacterial contamination of blood for transfusion in the Democratic Republic of the Congo.","authors":"Anne-Sophie Heroes, Paul Kabamba, Aimée Luyindula, Bernard Bongenya, Pierre Nzazi, Monica Nasali, Cathérine Akele, Marie-Paule Lusinga, John Ekofo, José Coene, Inge Van Cauwenberg, Philippe Vandekerckhove, Octavie Lunguya, Jan Jacobs","doi":"10.2450/BloodTransfus.586","DOIUrl":"10.2450/BloodTransfus.586","url":null,"abstract":"<p><strong>Background: </strong>We assessed healthcare worker's knowledge-attitude-practice regarding bacterial contamination of blood products in the Democratic Republic of the Congo.</p><p><strong>Materials and methods: </strong>In three hospitals and the National Blood Transfusion Center (NBTC), two multiple-choice surveys were completed on a tablet computer: one each, for blood bank (31 questions) and for clinical ward staff (20 questions). A score was calculated for 11 overlapping knowledge questions.</p><p><strong>Results: </strong>Among 247 participants (blood bank No.=62, ward No.=185), median (range) knowledge score was 10 (2-19) on a maximum of 20, with blood bank staff (12/20) scoring higher than clinical ward staff (9/20) (p<0.0001). Half (50.2%) of 247 participants recalled previous training in transfusion medicine. Participants had limited understanding of and compliance with NBTC-recommended preventive measures: incorrect assumption that wearing gloves prevents bacterial contamination (83.8%) and that blood banks test donor blood for bacteria (59.9%). Half (50.0%) of blood bank staff did not acknowledge the NBTC-recommended antisepsis procedure, 62.1% did not apply the appropriate number of antisepsis steps, and 32.3% saw no harm in touching the venipuncture site after antisepsis. Presence of bacteria on healthy skin (62.3%) and blood bank fomites (examination gloves: 30.8%, soap: 62.8%) was underestimated. Although 92.4% of clinical ward staff said to easily recognize transfusion reactions, only 15.7% recognized septic reactions and post-transfusion antibiotic treatment practices were not consistent. Challenges reported by blood bank staff and particular for low-resource settings were: frequent power cuts (98.4%), transport of blood products by patient attendants (41.1%), without cooling elements (64.4%), and reuse of finished antiseptic/disinfectant containers (75.4%).</p><p><strong>Discussion: </strong>The present study points to gaps in knowledge, attitudes, practices along sampling, cold chain and transfusion which can feed customized training and monitoring.</p>","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"213-225"},"PeriodicalIF":3.7,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138811945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recommendations for the management of acute immune thrombocytopenia in children. A Consensus Conference from the Italian Association of Pediatric Hematology and Oncology. 儿童急性免疫性血小板减少症治疗建议。意大利儿科血液学和肿瘤学协会共识会议。
IF 2.4 3区 医学
Blood Transfusion Pub Date : 2024-05-01 Epub Date: 2024-01-29 DOI: 10.2450/BloodTransfus.501
Giovanna Russo, Emilia Parodi, Piero Farruggia, Lucia D Notarangelo, Silverio Perrotta, Maddalena Casale, Simone Cesaro, Giovanni Del Borrello, Giovanni C Del Vecchio, Fiorina Giona, Chiara Gorio, Saverio Ladogana, Giuseppe Lassandro, Antonio Marzollo, Karolina Maslak, Maurizio Miano, Margherita Nardi, Giuseppe Palumbo, Francesca Rossi, Marco Spinelli, Alessandra Tolva, Paola Saracco, Ugo Ramenghi, Paola Giordano
{"title":"Recommendations for the management of acute immune thrombocytopenia in children. A Consensus Conference from the Italian Association of Pediatric Hematology and Oncology.","authors":"Giovanna Russo, Emilia Parodi, Piero Farruggia, Lucia D Notarangelo, Silverio Perrotta, Maddalena Casale, Simone Cesaro, Giovanni Del Borrello, Giovanni C Del Vecchio, Fiorina Giona, Chiara Gorio, Saverio Ladogana, Giuseppe Lassandro, Antonio Marzollo, Karolina Maslak, Maurizio Miano, Margherita Nardi, Giuseppe Palumbo, Francesca Rossi, Marco Spinelli, Alessandra Tolva, Paola Saracco, Ugo Ramenghi, Paola Giordano","doi":"10.2450/BloodTransfus.501","DOIUrl":"10.2450/BloodTransfus.501","url":null,"abstract":"<p><strong>Background: </strong>Immune thrombocytopenia (ITP) is an acquired immune-mediated bleeding disorder characterized by isolated thrombocytopenia. Its estimated yearly incidence in the pediatric population is 1.9-6.4/100,000. ITP in children is usually a self-limiting and benign disorder. The clinical management of children with ITP often remains controversial, as robust randomized trials on the management of this disorder are lacking. Treatments vary widely in clinical practice and existing guidelines from hematology societies on clinical management offer indications based largely on expert opinion rather than strong evidence.</p><p><strong>Materials and methods: </strong>The Coagulative Disorder Working Group of the Italian Association of Pediatric Hematology and Oncology (AIEOP) developed this document to collect shared expert opinions on the management of newly diagnosed ITP, updating previous guidelines and providing recommendations to pediatricians. Each statement has been given a score expressing the strength of evidence, appropriateness and agreement among participants.</p><p><strong>Results: </strong>Clear-cut definitions of the clinical phases of the disease and clinical response are stated. Recommendations are given regarding the classification of bleeding symptoms, evaluation of bleeding risk, diagnosis, and prognostic factors. Specific recommendations for treatment include indications for first-line (intravenous immunoglobulins, steroids) and second-line (combined therapy, thrombopoietin receptor agonists, immunosuppressive drugs, rituximab) therapeutic agents, as well as hemorrhagic emergency and supportive treatment, including emergency splenectomy. The optimal follow-up schedule, the relation between ITP and vaccines and health-related quality-of-life issues are also discussed.</p><p><strong>Discussion: </strong>The panel achieved broad consensus on issues related to how to treat children with newly diagnosed ITP, providing a comprehensive review of all relevant clinical aspects.</p>","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"253-265"},"PeriodicalIF":2.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10172154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thrombotic thrombocytopenic purpura: optimal management of plasma exchange, platelets and infection prevention. 血栓性血小板减少性紫癜:血浆置换、血小板和感染预防的优化管理。
IF 2.4 3区 医学
Blood Transfusion Pub Date : 2024-05-01 Epub Date: 2024-03-04 DOI: 10.2450/BloodTransfus.710
Ingrid Parra-Salinas, Juan Rodríguez-García, Saioa Zalba-Marcos, José A García-Erce
{"title":"Thrombotic thrombocytopenic purpura: optimal management of plasma exchange, platelets and infection prevention.","authors":"Ingrid Parra-Salinas, Juan Rodríguez-García, Saioa Zalba-Marcos, José A García-Erce","doi":"10.2450/BloodTransfus.710","DOIUrl":"10.2450/BloodTransfus.710","url":null,"abstract":"","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"273-274"},"PeriodicalIF":2.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140337452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Knowledge, attitudes and practices for blood safety in a worldwide perspective. 从全球角度看血液安全的知识、态度和实践。
IF 2.4 3区 医学
Blood Transfusion Pub Date : 2024-05-01 Epub Date: 2023-11-30 DOI: 10.2450/BloodTransfus.692
Massimo La Raja
{"title":"Knowledge, attitudes and practices for blood safety in a worldwide perspective.","authors":"Massimo La Raja","doi":"10.2450/BloodTransfus.692","DOIUrl":"10.2450/BloodTransfus.692","url":null,"abstract":"","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"187-188"},"PeriodicalIF":2.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138811955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Advantages of high cell concentration prior to cryopreservation of initial leukapheresis in CAR-T cell therapy. 在 CAR-T 细胞疗法中冷冻保存初始白细胞前高细胞浓度的优势。
IF 3.7 3区 医学
Blood Transfusion Pub Date : 2024-05-01 Epub Date: 2023-09-06 DOI: 10.2450/BloodTransfus.542
Diego Carbonell, Silvia Monsalvo, Eva Catalá, Ana Pérez-Corral, Carolina Villegas, Carmen Falero, Gloria Ruano, Monica Martinez, Mi Kwon, Cristina Muñoz-Martínez, José Luis Díez-Martín, Jorge Gayoso, Javier Anguita
{"title":"Advantages of high cell concentration prior to cryopreservation of initial leukapheresis in CAR-T cell therapy.","authors":"Diego Carbonell, Silvia Monsalvo, Eva Catalá, Ana Pérez-Corral, Carolina Villegas, Carmen Falero, Gloria Ruano, Monica Martinez, Mi Kwon, Cristina Muñoz-Martínez, José Luis Díez-Martín, Jorge Gayoso, Javier Anguita","doi":"10.2450/BloodTransfus.542","DOIUrl":"10.2450/BloodTransfus.542","url":null,"abstract":"<p><strong>Background: </strong>Chimeric antigen receptor (CAR) T-cell therapy is increasingly used in patients affected by B-cell lymphoma and acute lymphoblastic leukemia. For logistical reasons, initial apheresis products may be cryopreserved for shipment to manufacturing centers. Due to the characteristics of these patients, cells are often collected in large volumes, meaning more bags must be cryopreserved. This requires increased storage, time and monetary costs. In this context, we aimed to evaluate a high cell concentration cryopreservation protocol by centrifugation to standardize the initial CAR-T manufacturing procedure.</p><p><strong>Materials and methods: </strong>Sixty-eight processes of leukapheresis of 57 patients affected by refractory/relapsed B cell lymphoma and 9 patients affected by acute lymphoblastic leukemia who were eligible for anti-CD19 CAR-T cell treatment performed between June 2019 and October 2022 were analyzed. Whole blood count, percentage and number of T cells were assessed on the apheresis final product. The apheresis product, which was alternatively stored overnight at 4°C, was centrifuged, adjusting the volume to approximately 40 mL. The product was immediately cryopreserved to achieve a final cell concentration of 50-200×10<sup>6</sup> cells/ml for cryopreservation.</p><p><strong>Results: </strong>Leukapheresis volume was reduced by almost fivefold (median: 185 to 40 mL), resulting in a higher product concentration in one bag. In addition, the number of non-target cells (monocytes, platelets and erythrocytes) was also reduced during the development of CAR-T cell therapy, thereby maintaining T lymphocyte levels and providing a purer starting material.</p><p><strong>Discussion: </strong>The advantages of the protocol include reducing economic costs, saving storage space, simplifying the manufacturing process, and facilitating shipping logistics. In conclusion, we present a validated, simple, and cost-effective cell enrichment processing protocol that provides high-quality cryopreserved products as starting material for the CAR-T cell manufacturing process.</p>","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"239-245"},"PeriodicalIF":3.7,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Types of plasma exchange solution in the new scenario of thrombotic thrombocytopenic purpura treatment. 血栓性血小板减少性紫癜治疗新方案中的血浆置换液类型。
IF 2.4 3区 医学
Blood Transfusion Pub Date : 2024-05-01 Epub Date: 2024-03-04 DOI: 10.2450/BloodTransfus.744
Nadia García Muñoz, Sandra Ortega Sánchez, Joan R Grifols
{"title":"Types of plasma exchange solution in the new scenario of thrombotic thrombocytopenic purpura treatment.","authors":"Nadia García Muñoz, Sandra Ortega Sánchez, Joan R Grifols","doi":"10.2450/BloodTransfus.744","DOIUrl":"10.2450/BloodTransfus.744","url":null,"abstract":"","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"275-276"},"PeriodicalIF":2.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140337453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aplastic anemia after SARS-CoV-2 infection or vaccines: case series and literature review. 感染 SARS-CoV-2 或接种疫苗后出现再生障碍性贫血:系列病例和文献综述。
IF 2.4 3区 医学
Blood Transfusion Pub Date : 2024-05-01 Epub Date: 2023-09-04 DOI: 10.2450/BloodTransfus.500
Bruno Fattizzo, Raffaella Pasquale, Giorgio A Croci, Loredana Pettine, Giulio Cassanello, Wilma Barcellini
{"title":"Aplastic anemia after SARS-CoV-2 infection or vaccines: case series and literature review.","authors":"Bruno Fattizzo, Raffaella Pasquale, Giorgio A Croci, Loredana Pettine, Giulio Cassanello, Wilma Barcellini","doi":"10.2450/BloodTransfus.500","DOIUrl":"10.2450/BloodTransfus.500","url":null,"abstract":"","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"266-272"},"PeriodicalIF":2.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10180482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Platelet rich plasma use for treatment of acne scars: an overview of systematic reviews. 富血小板血浆用于治疗痤疮疤痕:系统综述。
IF 2.4 3区 医学
Blood Transfusion Pub Date : 2024-05-01 Epub Date: 2023-09-06 DOI: 10.2450/BloodTransfus.536
Mario Cruciani, Francesca Masiello, Ilaria Pati, Simonetta Pupella, Vincenzo De Angelis
{"title":"Platelet rich plasma use for treatment of acne scars: an overview of systematic reviews.","authors":"Mario Cruciani, Francesca Masiello, Ilaria Pati, Simonetta Pupella, Vincenzo De Angelis","doi":"10.2450/BloodTransfus.536","DOIUrl":"10.2450/BloodTransfus.536","url":null,"abstract":"<p><strong>Background: </strong>A reappraisal of the conclusions of systematic reviews (SRs) and meta-analyses validity related to Platelet-rich plasma (PRP), alone or in combination with other treatments, compared to regimens PRP-free for the treatment of acne scars.</p><p><strong>Materials and methods: </strong>An overview of SRs. The methodological quality of the reviews was assessed using AMSTAR-2 checklist; quality of the evidence of primary studies was appraised following the GRADE approach.</p><p><strong>Results: </strong>Fifteen SRs were included in this overview. Data were from 124 overlapping reports, based on 34 individual primary studies (10 parallel arm randomized trials, 21 split-face studies, and 3 uncontrolled studies). Most of the studies evaluated combination of PRP with microneedling or with laser therapy compared to microneedling or laser therapy without PRP. Clinical improvement (reported as degree of improvement or improvement score) and patient's satisfaction rate were significantly higher in PRP recipients compared to controls. Crusting time and duration of erythema were significantly shorter in PRP recipients compared to controls. Most of the reviews considered in this overview can be considered of low methodological quality due to the fact that several critical methodological requirements of AMSTAR-2 checklist were unmet or partially met; only 6 of the 15 reviews incorporated study quality in their conclusions, and no GRADE assessment was performed for the reported outcomes in any of the SRs. With the GRADE approach, the quality of the evidence for the outcomes analysed ranged from very low to low due to risk of bias in the primary studies, inconsistency between the studies, and imprecision.</p><p><strong>Discussion: </strong>The low or very low certainty of evidence does not support clear clinical decision about the PRP use in combination with microneedling or laser therapy for the treatment of acne scars. Further well-designed studies are required to improve the evidence base for PRP combination therapy for acne scars.</p>","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"226-238"},"PeriodicalIF":2.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10180485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Breakpoint regions of an RHD-CE(4-9)-D allele and a rare JK allele in a Pacific Islander individual. 太平洋岛民中 RHD-CE(4-9)-D 等位基因和罕见 JK 等位基因的断裂点区域。
IF 2.4 3区 医学
Blood Transfusion Pub Date : 2024-05-01 Epub Date: 2023-08-25 DOI: 10.2450/BloodTransfus.534
Kshitij Srivastava, Marina U Bueno, Willy A Flegel
{"title":"Breakpoint regions of an RHD-CE(4-9)-D allele and a rare JK allele in a Pacific Islander individual.","authors":"Kshitij Srivastava, Marina U Bueno, Willy A Flegel","doi":"10.2450/BloodTransfus.534","DOIUrl":"10.2450/BloodTransfus.534","url":null,"abstract":"<p><strong>Background: </strong>Among 710 RHD alleles, 3 alleles have been shown to express CcEe antigens and, among 67 hybrid alleles of the RHD gene, 2 alleles have evolved to include RHCE exons 4-9. No breakpoint region had been described for such RHD-CE(4-9)-D hybrid alleles. In the Kidd blood group system, the JK*02N.01 null allele is found with high prevalence in the Polynesian population. We investigated a self-identified Pacific Islander with discrepant serologic and molecular results for his C and Jk<sup>b</sup> antigens. Another 8 samples with genotype-phenotype discrepancies in the Kidd blood group system were assessed.</p><p><strong>Materials and methods: </strong>A combination of published molecular methods and commercial kits were applied to analyze the RHD, RHCE, and SLC14A1 gene sequences, as were hemagglutination tests to determine the serologic phenotypes.</p><p><strong>Results: </strong>Nucleotide sequencing of the RHD gene in the index case, including relevant intron stretches, and cDNA identified an RHD-CE(4-9)-D hybrid allele. Nucleotide sequencing of his RHCE gene confirmed the presence of 2 RHCE*ce alleles despite expressing the C antigen. Sequencing of his SLC14A1 gene documented the JK*02N.01 null allele. In the other 8 samples, 5 previously known SLC14A1 nucleotide substitutions were identified. The JK*02N.17 allele was determined to be Jk<sup>b</sup>-positive.</p><p><strong>Discussion: </strong>We determined the 2 breakpoint regions of his RHD-CE(4-9)-D hybrid allele, which was likely distinct from the 2 previously published hybrid alleles due to the differences in the linked RHCE allele. His RHD variant was shown to express the C antigen. An SLC14A1 substitution was underlying his unexpected Jk<sup>b</sup>-negative phenotype. In a quality improvement project, we resolved 8 samples with similarly discrepant results between Jk serology and red cell genotyping.</p>","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"189-197"},"PeriodicalIF":2.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10172155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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