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All blood discard does not amount to blood wastage-A critical technical reappraisal. 所有的血液丢弃不等于血液浪费——一项关键的技术重新评估。
IF 1.4 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-09 DOI: 10.1111/tme.70031
Karan Kumar, Priyadarsini Jayachandran Arcot, Suchet Sachdev, Aarushi Sahni, Sangeeta Kumari, Ratti Ram Sharma

Background: Blood centres, as part of their routine operations, generate various forms of waste during the collection-to-transfusion continuum. However, not all discarded blood components equate to 'wastage'.

Methods: A critical technical appraisal distinguishing blood discard (necessary and regulatory-compliant) from blood wastage (preventable and avoidable) was done.

Results: We propose clear operational definitions and introduce refined metrics such as blood discard rate (BDR), blood wastage rate (BWR) and total discard rate (TDR) to ensure accurate reporting. The concept of 'all-cause blood discard' encompassing both justified discards and true wastage is emphasised.

Conclusion: Misinterpretation of data on discarding as wastage by technical personnel, policymakers, media and the public at large can lead to a trust deficit in transfusion services. Adoption of these distinctions and metrics will improve transparency, resource management and public confidence in blood services.

背景:血液中心作为其日常操作的一部分,在采集到输血的连续过程中产生各种形式的废物。然而,并非所有丢弃的血液成分都等同于“浪费”。方法:对血液浪费(可预防和可避免)和血液丢弃(必要的和符合法规的)进行关键的技术鉴定。结果:我们提出了明确的操作定义,并引入了血液丢弃率(BDR)、血液浪费率(BWR)和总丢弃率(TDR)等改进指标,以确保准确报告。强调了“全因血液丢弃”的概念,包括合理丢弃和真正浪费。结论:技术人员、政策制定者、媒体和广大公众将丢弃数据误解为浪费可能导致输血服务中的信任赤字。采用这些区分和衡量标准将提高透明度、资源管理和公众对血液服务的信心。
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引用次数: 0
Implementing bedside electronic transfusion checks at Barts Health NHS Trust: A study protocol for evaluating the effectiveness and value for money. 在巴茨健康NHS信托实施床边电子输血检查:评估有效性和价值的研究方案。
IF 1.4 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-01 Epub Date: 2025-08-19 DOI: 10.1111/tme.70002
Montasir Ahmed, Laura Green, Iram Bhatti, Catherine Booth, Louise Bowles, Ollie Djurdjevic, Helinor McAleese, Josephine McCullagh, Michael F Murphy, Florence Oyekan, Nathan Proudlove, Florian Tomini, Yan Feng

Objective: To evaluate the benefits of implementing Bedside Electronic Transfusion Checks (BETC) to patients and value for money at four hospitals at Barts Health NHS Trust.

Background: BETC aims to enhance transfusion safety by reducing errors associated with positive patient identification checks for compatibility, blood sample labelling, and blood component administration. There is limited evidence on the potential benefits to patients and healthcare professionals as well as value for money for implementing BETC.

Methods: The BETC implementation at four hospitals adopted a non-randomised, staggered, multi-phase strategy. Alongside the implementation, an evaluation study was conducted. The intervention consists of a portable handheld scanning device and a mobile printer used for printing labels that are attached to the compatibility blood bottles and for verifying the patient's details against blood units prior to blood administration. Eligible patients are those who received blood transfusions or had compatibility tests performed during the evaluation period. The outcomes for evaluation include transfusion-related errors and cost savings from an NHS perspective. Regression-based time-series intervention analyses will be applied to evaluate the impacts of BETC implementation.

Expected results: The three-year evaluation includes a 12-month pre-implementation period (May 2022 to April 2023) and a 24-month implementation period (May 2023 to April 2025). All staff involved with bedside transfusion were trained on the new system. Data were collected from different transfusion datasets, process mapping dataset, and Health Economics Inventory dataset.

Discussion: Findings from this evaluation study will provide empirical evidence on the effectiveness and value for money of implementing BETC and will support decision-making for its wider roll-out in the UK.

目的:评估实施床边电子输血检查(BETC)的效益和价值在四家医院在巴茨健康NHS信托。背景:BETC旨在通过减少与阳性患者识别检查、血液样本标记和血液成分管理相关的错误来提高输血安全性。关于实施BETC对患者和医疗保健专业人员的潜在益处以及物有所值的证据有限。方法:四家医院的BETC实施采用非随机、交错、多阶段策略。在实施的同时,还进行了一项评价研究。干预包括便携式手持扫描设备和移动打印机,用于打印贴在兼容血瓶上的标签,并用于在给血之前根据血液单位验证患者的详细信息。符合条件的患者是在评估期间接受输血或进行相容性测试的患者。评估的结果包括输血相关的错误和从NHS角度节省的成本。基于回归的时间序列干预分析将被应用于评估BETC实施的影响。预期结果:为期三年的评估包括12个月的预实施期(2022年5月至2023年4月)和24个月的实施期(2023年5月至2025年4月)。所有参与床边输血的工作人员都接受了新系统的培训。数据收集自不同的输血数据集、流程映射数据集和卫生经济学清单数据集。讨论:本评估研究的结果将为实施BETC的有效性和物有所值提供经验证据,并将支持其在英国更广泛推广的决策。
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引用次数: 0
Hepatitis C virus infection in blood donors in Santa Catarina, Brazil, 2010-2020. 2010-2020年巴西圣卡塔琳娜献血者丙型肝炎病毒感染情况
IF 1.4 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-01 Epub Date: 2025-07-24 DOI: 10.1111/tme.70004
Fabiana Schuelter-Trevisol, Gabriel Tadeu Ossani, Gabriel Oscar Cremona Parma, Daisson José Trevisol

Introduction: Hepatitis C is a silent disease characterised by a persistent inflammatory process in the liver. Since blood is the main route of transmission, the objective of this study was to estimate the positivity rate of hepatitis C virus (HCV) infection in blood donations from the Public Blood Network of the State of Santa Catarina and to analyse the temporal trend and spatial distribution of cases between 2010 and 2020.

Methods: This historical cohort study included blood donors who tested positive for HCV and donated blood at the service between January 1, 2010, and December 31, 2020.

Results: Out of a total of 1 316 605 blood donations, 782 new samples tested positive for HCV, corresponding to an overall positivity rate of 59.4 per 100 000 donations. The majority of HCV-positive donors were adults, male, of white skin colour, married, and had at least a secondary education. Most HCV-positive cases were found in the South and Coastal Regions of Santa Catarina, although municipalities with high positivity rates were observed across all macro-regions of the state.

Conclusions: The HCV positivity rate in blood donations from the Public Blood Network of the State of Santa Catarina demonstrated a downward trend over time, while maintaining sociodemographic characteristics similar to those reported in other regional studies. Furthermore, although HCV cases were reported in all macro-regions, the highest positivity rates occurred in the South, Alto Vale do Itajaí, Meio Oeste, Serra Catarinense, and Grande Oeste regions.

简介:丙型肝炎是一种隐性疾病,其特征是肝脏持续炎症。由于血液是主要传播途径,本研究的目的是估计圣卡塔琳娜州公共血液网络捐献的血液中丙型肝炎病毒(HCV)感染的阳性率,并分析2010年至2020年期间病例的时间趋势和空间分布。方法:本历史队列研究纳入了2010年1月1日至2020年12月31日期间丙型肝炎病毒检测呈阳性并在服务中心献血的献血者。结果:在总共1316605次献血中,有782个新样本检测出HCV阳性,相当于每10万次献血的总阳性率为59.4。大多数hcv阳性献血者为成年男性,白皮肤,已婚,至少受过中等教育。大多数hcv阳性病例出现在圣卡塔琳娜州的南部和沿海地区,尽管在该州所有大区域都观察到高阳性率的城市。结论:圣卡塔琳娜州公共血液网络献血中的HCV阳性率随着时间的推移呈下降趋势,同时保持与其他区域研究报告相似的社会人口统计学特征。此外,尽管在所有大区域都报告了HCV病例,但最高的阳性率发生在南部、Alto Vale do Itajaí、Meio Oeste、Serra Catarinense和Grande Oeste地区。
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引用次数: 0
Variability in viscoelastic haemostatic assay in major haemorrhage protocols: A unified approach or mixed signals? 粘弹性止血试验在大出血方案中的可变性:统一的方法还是混合的信号?
IF 1.4 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-01 Epub Date: 2025-07-23 DOI: 10.1111/tme.70003
Akmez Latona, James Winearls, Kate Hill, Michelle Spanevello, Biswadev Mitra

Background and objectives: Viscoelastic haemostatic assays (VHA) are part of patient blood management (PBM) for bleeding, associated with reduced transfusions. This study reviewed all major haemorrhage protocols (MHPs) using VHA in Queensland, Australia, and assessed variability.

Methods: VHA platforms in Queensland Health include rotational thromboelastometry (ROTEM® Sigma) and thromboelastography (TEG 6 s). PBM guidelines were searched for VHA-guided MHPs. Outcomes included viscoelastic thresholds and transfusion recommendations.

Results: Nineteen hospitals used VHA: sixteen with ROTEM and three with TEG. Among hospitals with ROTEM, fibrinolysis was assessed first in 13 algorithms, primarily using FIBTEM flat-line (n = 6) or ML >5% (n = 5). Fibrinogen thresholds were FIBTEM A5 <10 mm (n = 15) and <12 mm (n = 1). Platelet thresholds included EXTEM A5 <25 mm (n = 2) or EXTEM A5 <35 mm (n = 6) as isolated criteria, and EXTEM A5 <35 mm combined with FIBTEM A5 >10 mm (n = 9) as combined criterion. Coagulation factor thresholds were EXTEM CT >90 s (n = 13), EXTEM CT >80 s (n = 2) and INTEM CT ≥240 s (n = 1). TEG algorithms used CFF MA/A10 <15 mm (n = 3), <10 mm and <5 mm (n = 1). Platelet thresholds: CRT MA <50 mm (n = 3), and <25 mm (n = 1). Coagulation factor thresholds: CK R >9 min (n = 2) and CKH R >10 min (n = 1). Fibrinolysis: CRT LY30 >2.2% (n = 3). Doses varied across all algorithms: cryoprecipitate (10-30 U), FC (3-6 g), platelet (1-2 U), fresh frozen plasma (1-4 U), and prothrombin complex concentrate (PCC) (5-50 U/kg).

Conclusion: VHA-guided MHP showed marked variation with inconsistent transfusion thresholds. For similar clot kinetics, dosing of blood products and haemostatic agents differed, particularly PCC. Patients with the same coagulopathy may receive different treatment across hospitals. Centralised standardisation could improve PBM consistency.

背景和目的:粘弹性止血试验(VHA)是出血患者血液管理(PBM)的一部分,与减少输血有关。本研究回顾了澳大利亚昆士兰州使用VHA的所有主要出血方案(MHPs),并评估了变异性。方法:昆士兰健康中心的VHA平台包括旋转血栓弹性测量(ROTEM®Sigma)和血栓弹性成像(TEG 6s)。在PBM指南中搜索vha引导的MHPs。结果包括粘弹性阈值和输血建议。结果:19家医院采用VHA, 16家医院采用ROTEM, 3家医院采用TEG。在采用ROTEM的医院中,纤维蛋白溶解首先在13种算法中进行评估,主要使用FIBTEM平线(n = 6)或ML >5% (n = 5)。纤维蛋白原阈值以fitem A5 - 10 mm (n = 9)为联合标准。凝血因子阈值分别为:EXTEM CT >90 s (n = 13)、EXTEM CT >80 s (n = 2)、INTEM CT≥240 s (n = 1)。TEG算法使用CFF MA/A10 9 min (n = 2)和CKH R >10 min (n = 1)。纤溶:CRT ly30> 2.2% (n = 3)。所有算法的剂量各不相同:低温沉淀(10-30 U)、FC (3-6 g)、血小板(1-2 U)、新鲜冷冻血浆(1-4 U)和凝血酶原复合物浓缩物(PCC) (5-50 U/kg)。结论:vha引导的MHP在输血阈值不一致的情况下存在明显的差异。对于相似的凝块动力学,血液制品和止血剂的剂量不同,特别是PCC。患有相同凝血病的患者在不同的医院可能会接受不同的治疗。集中标准化可以提高PBM的一致性。
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引用次数: 0
Red cell special interest group 2024. 红细胞特殊兴趣小组2024。
IF 1.4 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-01 Epub Date: 2025-08-13 DOI: 10.1111/tme.70007
Vanja Karamatic Crew, Christian Jannete Stevens-Hernandez, Lesley J Bruce
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引用次数: 0
XLII Annual Scientific Meeting of the British Blood Transfusion Society, 14-16 October 2025, Harrogate Convention Centre, Harrogate, UK. 第32届英国输血协会年度科学会议,2025年10月14-16日,哈罗盖特会议中心,英国哈罗盖特
IF 1.4 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-01 DOI: 10.1111/tme.70021
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引用次数: 0
Storage of thawed cryoprecipitate for 5 days at refrigerated temperatures: A systematic review and meta-analysis. 解冻的低温沉淀在冷藏温度下储存5天:一项系统综述和荟萃分析。
IF 1.4 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-01 Epub Date: 2025-08-19 DOI: 10.1111/tme.70009
Shuhong Xie, Longhai Tang, Qi Xiao, Qungang Zhou, Mingyuan Wang

This systematic review and meta-analysis aim to evaluate the changes in coagulation factor and bacterial contamination by extending the preservation period of thawed cryoprecipitate for 5 days at refrigerated temperatures. Literature searches were conducted from three different databases, and the literature was screened according to the inclusion criteria. The quality of the literature was assessed using the Risk of Bias in Non-randomised Studies-of Interventions (ROBINS-I) tool, and a meta-analysis was conducted using RevMan5.3 software. Finally, five studies met the inclusion criteria. The meta-analysis results show that fibrinogen concentration remains stable after storing the thawed cryoprecipitate at refrigerated temperatures for 5 days Mean Difference (MD) = -0.0802, 95% Confidence Interval (CI) = -0.4220, 0.2616, p = 0.65. The systematic review showed that thawed cryoprecipitate stored at refrigerated temperatures for 120 h had a slight decrease in factor VIII activity but still met the current standard, von Willebrand factor content level remained relatively stable, factor XIII activity showed no significant decrease, and no bacterial contamination was detected. Overall, the available data suggest that fibrinogen concentration remained stable and no bacterial contamination was detected after storing the thawed cryoprecipitate at refrigerated temperatures for 5 days. The lack of assessment of aggregate formation is an important limitation of this review. In addition, the number of relevant studies is still relatively limited, and further extensive studies are necessary to confirm this conclusion.

本系统综述和荟萃分析旨在通过延长解冻后的冷冻沉淀在冷藏温度下保存5天来评估凝血因子和细菌污染的变化。从三个不同的数据库中进行文献检索,并根据纳入标准对文献进行筛选。使用非随机研究干预(ROBINS-I)工具评估文献质量,并使用RevMan5.3软件进行meta分析。最后,有5项研究符合纳入标准。meta分析结果显示,解冻后的冷冻沉淀在冷藏温度下保存5 d后,纤维蛋白原浓度保持稳定。平均差值(MD) = -0.0802, 95%可信区间(CI) = -0.4220, 0.2616, p = 0.65。系统评价显示,解冻后的冷冻沉淀在冷藏温度下保存120 h后,因子VIII活性略有下降,但仍符合现行标准,血管性血液病因子含量水平保持相对稳定,因子XIII活性无明显下降,未检测到细菌污染。总的来说,现有数据表明,在解冻后的冷冻沉淀在冷藏温度下储存5天后,纤维蛋白原浓度保持稳定,未检测到细菌污染。缺乏对总体形成的评估是本综述的一个重要局限性。此外,相关研究的数量仍然相对有限,需要进一步的广泛研究来证实这一结论。
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引用次数: 0
Systematic literature review and meta-analysis of concordance and accuracy of pretransfusion immunohematology routine tests. 输注前免疫血液学常规检查一致性和准确性的系统文献综述和荟萃分析。
IF 1.4 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-01 Epub Date: 2025-08-25 DOI: 10.1111/tme.70010
Christopher Elliott, Stephanie Kelham, Liu Zhang, Stacy Grieve, Tommy Lan, Hoora Moradian, Cristina Coll-Ortega, David Gómez-Ulloa

Objectives: This study aimed to assess the concordance and comparative accuracy of commercially available immunohematology (IH) tests for pretransfusion testing.

Background: Pretransfusion tests are intended to ensure donor blood is matched with a compatible recipient. Automated testing has become the mainstay since the commercialisation of IH analysers, because of their reduced risk of human error and increased efficiency.

Methods/materials: A systematic literature review (SLR) was performed to identify studies evaluating the concordance and sensitivity/specificity of IH tests for ABO/RhD typing, antibody screening, or antibody identification. Pairwise meta-analysis of concordance and sensitivity/specificity of IH tests was conducted when feasible.

Results: The SLR identified 48 publications, of which 30 were included for meta-analysis. ID/IH gel (Bio-Rad), DG gel (Grifols), MTS/BioVue gel (Ortho Clinical Diagnostics), and Capture R (Immucor/Werfen) all had almost 100% pooled concordance with each other in ABO/RhD typing and antibody screening. Antibody identification results varied across studies, and pooled concordance rates were lower: 97.53% for DG gel versus ID/IH gel, 85.26% for ID/IH gel vs. MTS/BioVue gel, 85.54% for DG gel versus MTS/BioVue gel, and 71.19% for Capture R versus MTS/BioVue gel. For antibody screening, ID/IH gel, DG gel, and MTS/BioVue gel had pooled sensitivities of 94.23%, 96.31%, and 97.27%, respectively, with a pooled specificity of ~100% for all three tests.

Conclusion: All tests had good concordance in ABO/RhD typing and antibody screening, and lower pooled concordance rates for antibody identification. For antibody screening, 95% pooled sensitivity and ~100% specificity were estimated for DG gel, MTS/BioVue gel, and ID/IH gel.

目的:本研究旨在评估市售免疫血液学(IH)检测在输血前检测中的一致性和相对准确性。背景:输血前检查的目的是确保供体血液与相容的受体相匹配。自IH分析仪商业化以来,自动化测试已成为主流,因为它们降低了人为错误的风险并提高了效率。方法/材料:进行系统文献综述(SLR),以确定评估IH试验在ABO/RhD分型、抗体筛选或抗体鉴定方面的一致性和敏感性/特异性的研究。可行时对IH检测的一致性和敏感性/特异性进行两两荟萃分析。结果:SLR确定了48篇出版物,其中30篇纳入meta分析。ID/IH凝胶(Bio-Rad)、DG凝胶(Grifols)、MTS/BioVue凝胶(Ortho Clinical Diagnostics)和Capture R凝胶(Immucor/Werfen)在ABO/RhD分型和抗体筛选中几乎100%一致。不同研究的抗体鉴定结果不同,合并一致性率较低:DG凝胶与ID/IH凝胶的一致性为97.53%,ID/IH凝胶与MTS/BioVue凝胶的一致性为85.26%,DG凝胶与MTS/BioVue凝胶的一致性为85.54%,Capture R与MTS/BioVue凝胶的一致性为71.19%。对于抗体筛选,ID/IH凝胶、DG凝胶和MTS/BioVue凝胶的总敏感性分别为94.23%、96.31%和97.27%,三种检测的总特异性均为~100%。结论:所有检测方法在ABO/RhD分型和抗体筛选方面具有较好的一致性,抗体鉴定的总一致性率较低。对于抗体筛选,估计DG凝胶、MTS/BioVue凝胶和ID/IH凝胶的总灵敏度为95%,特异性为~100%。
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引用次数: 0
It is not all anti-policy attitudes: Viewing blood donation as a means to belong predicts blood donation among men who have sex with men. 并非所有人都持反对政策的态度:将献血视为归属的一种手段,预示着男男性行为者也会献血。
IF 1.4 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-01 Epub Date: 2025-08-24 DOI: 10.1111/tme.70012
Koson Tony Sriamporn, Peter J W Saxton, Nathan S Consedine

Objective: To examine whether specific attitudes towards blood donation vary across MSM demographic groups; and preliminarily test whether these attitudes predict prior donation behaviour.

Background: Insights into blood donors' attitudes facilitate effective donor management, especially as policies for men who have sex with men (MSM) become more inclusive. While attitudes towards donating blood can predict donor decisions, it is unclear whether attitudinal factors specific to MSM groups will be important considerations for blood service providers engaging with this newly eligible donor group.

Methods: Data were drawn from a large (N = 3157) online cross-sectional survey of MSM in New Zealand. New items were developed to assess three attitudinal constructs: negative attitudes towards the MSM deferral policy, favourable attitudes towards blood services, and the tendency to view blood donation as a form of civic participation and belonging. Univariate analyses descriptively characterised demographic factors associated with those various attitudes, and multivariate logistic regressions were used to predict self-reported donation histories.

Results: Negative views of deferral policies and blood services varied across sample characteristics in univariate analyses, but did not systematically differ between donors and nondonors. However, a perception of blood donation as a means of civic belonging was consistently associated with greater donation, including 1.46 times the odds of having ever donated (p < 0.001) and 1.40 times the odds of having donated recently under the current 3-month deferral policy (p = 0.017).

Conclusion: These findings highlight the importance of recognising broader civic-related attitudes in MSM donor research and engagement strategies.

目的:探讨不同男男性接触人群对献血的具体态度是否存在差异;并初步测试这些态度是否能预测之前的捐赠行为。背景:了解献血者的态度有助于有效的献血者管理,特别是随着针对男男性行为者(MSM)的政策变得更加包容。虽然对献血的态度可以预测献血者的决定,但目前尚不清楚MSM群体特有的态度因素是否会成为血液服务提供者与这一新的合格献血者群体接触的重要考虑因素。方法:数据来自新西兰MSM在线横断面调查(N = 3157)。开发了新的项目来评估三种态度结构:对男男性接触者推迟政策的消极态度,对血液服务的有利态度,以及将献血视为公民参与和归属的一种形式的倾向。单变量分析描述性地描述了与这些不同态度相关的人口因素,并使用多变量逻辑回归来预测自我报告的捐赠历史。结果:在单变量分析中,对延迟政策和血液服务的负面看法因样本特征而异,但在献血者和非献血者之间没有系统性差异。然而,将献血作为公民归属感的一种方式的看法始终与更多的献血相关,包括曾经献血的几率的1.46倍(p结论:这些发现强调了在MSM献血者研究和参与策略中认识到更广泛的公民相关态度的重要性。
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引用次数: 0
Two novel variant allele of the RHD gene detected in two Chinese blood donors with the RHD negative phenotype. 在2例中国献血者RHD阴性表型中检测到两个新的RHD基因变异等位基因。
IF 1.4 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-01 Epub Date: 2025-07-16 DOI: 10.1111/tme.70001
Qiuhong Mo, Xuejun Liu, Mingshuang Lai, Rongji Lai, Limin Chen, Baoren He

Background: The D antigen is the most clinically important antigen in the Rh system due to its high immunogenicity and being the main cause of hemolytic disease of the foetus and newborns (HDFN). High polymorphism of the RHD gene implicates that new RHD variant alleles may be regularly identified.

Study design and methods: D antigen status was examined using saline tubes with IgM anti-D (clone RUM-1). If a negative result was observed, indirect antiglobulin test (IAT) and adsorption-elution test were performed with four monoclonal anti-D reagents. A D-screen identification kit was used for partial D identification. All 10 exons of the RHD gene plus flanking intronic regions were amplified and sequenced.

Results: The serological investigation showed clearly negative results with all anti-D reagents used when testing against both probands RBCs. The sequencing results of probands revealed c.802-1G>C mutation in proband 1 and c.1154-2A>T mutation in proband 2. These mutations resulted in the change of 3' splice site in the intron-exon junction of intron 5 or intron 8 of the RHD gene from AG to AC or TG, abolishing the splicing effect.

Conclusions: We identified two novel splicing variants resulting from c.802-1G>C and c.1154-2A>T mutations in the RHD gene. Both mutations may abolish the splicing effect of the involved exons, leading to the D-negative phenotype.

背景:D抗原是Rh系统中最重要的抗原,因其具有较高的免疫原性,是胎儿和新生儿溶血病(hdn)的主要原因。RHD基因的高多态性意味着新的RHD变异等位基因可能被定期发现。研究设计和方法:采用含IgM抗-D(克隆RUM-1)的生理盐水管检测D抗原状态。如果结果为阴性,则用4种单克隆抗d试剂进行间接抗球蛋白试验(IAT)和吸附洗脱试验。D-screen鉴定试剂盒用于部分D鉴定。RHD基因的所有10个外显子和侧翼内含子区域被扩增并测序。结果:血清学调查显示,在检测两种先证者红细胞时,所有抗- d试剂均明显阴性。先证者测序结果显示先证者1存在C .802- 1g >C突变,先证者2存在C .1154- 2a >T突变。这些突变导致RHD基因的内含子5或内含子8的内含子-外显子连接处的3'剪接位点从AG变为AC或TG,从而消除了剪接作用。结论:我们发现了两个新的剪接变体,由RHD基因的C .802- 1g >C和C .1154- 2a >T突变引起。这两种突变都可能破坏相关外显子的剪接作用,导致d -阴性表型。
{"title":"Two novel variant allele of the RHD gene detected in two Chinese blood donors with the RHD negative phenotype.","authors":"Qiuhong Mo, Xuejun Liu, Mingshuang Lai, Rongji Lai, Limin Chen, Baoren He","doi":"10.1111/tme.70001","DOIUrl":"10.1111/tme.70001","url":null,"abstract":"<p><strong>Background: </strong>The D antigen is the most clinically important antigen in the Rh system due to its high immunogenicity and being the main cause of hemolytic disease of the foetus and newborns (HDFN). High polymorphism of the RHD gene implicates that new RHD variant alleles may be regularly identified.</p><p><strong>Study design and methods: </strong>D antigen status was examined using saline tubes with IgM anti-D (clone RUM-1). If a negative result was observed, indirect antiglobulin test (IAT) and adsorption-elution test were performed with four monoclonal anti-D reagents. A D-screen identification kit was used for partial D identification. All 10 exons of the RHD gene plus flanking intronic regions were amplified and sequenced.</p><p><strong>Results: </strong>The serological investigation showed clearly negative results with all anti-D reagents used when testing against both probands RBCs. The sequencing results of probands revealed c.802-1G>C mutation in proband 1 and c.1154-2A>T mutation in proband 2. These mutations resulted in the change of 3' splice site in the intron-exon junction of intron 5 or intron 8 of the RHD gene from AG to AC or TG, abolishing the splicing effect.</p><p><strong>Conclusions: </strong>We identified two novel splicing variants resulting from c.802-1G>C and c.1154-2A>T mutations in the RHD gene. Both mutations may abolish the splicing effect of the involved exons, leading to the D-negative phenotype.</p>","PeriodicalId":23306,"journal":{"name":"Transfusion Medicine","volume":"35 5","pages":"494-497"},"PeriodicalIF":1.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12499640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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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Transfusion Medicine
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