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Loss of D expression associated with hematologic disease progression: a case report and review of the literature. D表达缺失与血液病进展相关:1例报告及文献回顾
Q4 Medicine Pub Date : 2025-10-31 Print Date: 2025-09-01 DOI: 10.2478/immunohematology-2025-012
Nalan Yurtsever, Gabrielle Carmichael, Peining Li, Jia Di Wen, Hongyan Chai, Autumn Diadamo, Gregory Denomme, Christopher Tormey

We report a case of a 61-year-old male patient with a complex hematologic history including pre-B acute lymphocytic leukemia, allogeneic stem cell transplant, and newly treated colon cancer followed by diagnosis of high-risk myelodysplastic syndrome (MDS), who exhibited abolishment of D antigen production. The patient's red blood cells (RBCs), which originally typed as group A, D+, again typed as group A, D+, after receiving stem cells from a female donor with the same blood type. The reactivity of the patient's RBCs was strong when tested with anti-D reagent until he was treated for colon cancer. Within 6 months of diagnosis of cancer, he developed a mixed-field D typing result followed by a complete D- phenotype over the course of a few weeks, coinciding with the new diagnosis of MDS and initiation of immunosuppressive therapy. Polymerase chain reaction (PCR) testing revealed no weak or partial D variants, and subsequent Sanger sequencing confirmed the presence of a conventional RHD gene. A more focused analysis by chromosomal microarray identified deletions involving the RHD locus, supporting the hypothesis that active MDS disrupted gene expression. The patient received another stem cell transplant, this time from a group AB, D+ male donor. In a short period of time, MDS re-emerged along with re-identification of microarray mutations encompassing RHD in female cells (from the first donor) even after the second stem cell transplant. However, D expression remained strong, underscoring the presence of enough male donor RHD expression to maintain the D+ phenotype.

我们报告一例61岁男性患者的复杂血液学史,包括前b急性淋巴细胞白血病,异基因干细胞移植和新治疗的结肠癌,随后诊断为高风险骨髓增生异常综合征(MDS),他表现出D抗原产生的消除。患者的红细胞(rbc)原本是A、D+型,在接受了相同血型的女性供者的干细胞后,又变成了A、D+型。在接受结肠癌治疗之前,患者的红细胞在抗d试剂检测中反应性很强。在诊断出癌症的6个月内,他出现了混合场D分型结果,随后在几周内出现了完整的D-表型,与MDS的新诊断和免疫抑制治疗的开始相吻合。聚合酶链反应(PCR)检测显示没有弱或部分D变异,随后的Sanger测序证实了常规RHD基因的存在。通过染色体微阵列进行的更集中的分析发现了涉及RHD位点的缺失,支持了活跃MDS破坏基因表达的假设。患者接受了另一次干细胞移植,这次来自AB、D+组的男性供体。在短时间内,即使在第二次干细胞移植后,MDS再次出现,同时在女性细胞(来自第一个供体)中重新识别包含RHD的微阵列突变。然而,D表达仍然很强,强调存在足够的男性供体RHD表达来维持D+表型。
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引用次数: 0
Investigation of unexplained reactivity: antibody of unknown specificity (AUS). 不明原因的反应性调查:未知特异性抗体(AUS)。
Q4 Medicine Pub Date : 2025-07-08 Print Date: 2025-06-01 DOI: 10.2478/immunohematology-2025-008
Janis R Hamilton, Christine Lomas-Francis, Sandra J Nance

When antibody screening results are positive in a patient"s sample, the next step is to identify the specificity of the antibody and plan for transfusion or treatment needs. Most often, the antibody can be identified at the transfusing facility; samples that are not resolved may be referred to an immunohematology reference laboratory. A portion of these referred samples may still not be resolved, and the antibodies in these cases have been termed "antibodies of unidentified or undetermined specificity". In this publication, we selected the term "unknown" for such antibodies. Local medical staff should be involved in the clinical management and transfusion recommendations for these patients. The flow charts described in this article are designed to guide the serologist through steps that may result in a defined antibody specificity, or they may not resolve the specificity, and thus, the antibody remains an "antibody of unknown specificity".

当患者样本的抗体筛查结果为阳性时,下一步是确定抗体的特异性,并计划输血或治疗需求。大多数情况下,抗体可以在输血设施中识别;未溶解的样品可提交免疫血液学参比实验室。这些参考样本的一部分可能仍未被分解,在这些情况下的抗体被称为“特异性不明或未确定的抗体”。在这篇文章中,我们选择了“未知”一词来描述这类抗体。当地医务人员应参与这些患者的临床管理和输血建议。本文中描述的流程图旨在指导血清学家完成可能导致确定抗体特异性的步骤,或者它们可能无法解决特异性,因此,该抗体仍然是“未知特异性的抗体”。
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引用次数: 0
The Rh blood group system: RHD update. Rh血型系统:RHD更新。
Q4 Medicine Pub Date : 2025-07-08 Print Date: 2025-06-01 DOI: 10.2478/immunohematology-2025-007
Glenn Ramsey

The Rh blood group system was last reviewed in Immunohematology in 2010 (Chou ST, Westhoff CM. The Rh and RhAG blood group systems. Immunohematology 2010;26:178-86). This update focuses on RHD, RhD structure, alterations in D expression, anti-D alloimmunization, and applications of RHD genotyping for weak and discrepant D phenotypes; identification of RHD genotypes that encode partial D phenotypes; and prevention and management of anti-D in pregnancy. Updates to the RHAG system and to RHCE and its encoded antigens are in recent or upcoming publications of Immunohematology, respectively.

Rh血型系统最后一次被回顾是在2010年的免疫血液学(Chou ST, Westhoff CM)。Rh和RhAG血型系统。免疫血液学26:178 2010;86)。本更新主要关注RHD, RHD结构,D表达改变,抗D异体免疫,以及RHD基因分型在弱和差异D表型中的应用;编码部分D表型的RHD基因型的鉴定;预防和管理妊娠期的抗d抗体。对RHAG系统和RHCE及其编码抗原的更新分别发表在最近或即将出版的《免疫血液学》杂志上。
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引用次数: 0
The utility of an acid elution when a direct antiglobulin test is positive due to complement alone. 当直接抗球蛋白试验由于补体单独呈阳性时,酸洗脱的效用。
Q4 Medicine Pub Date : 2025-07-08 Print Date: 2025-06-01 DOI: 10.2478/immunohematology-2025-009
Beth M Meyer

Acid elutions are intended to recover IgG antibodies from the red blood cell (RBC) surface. Eluates from samples that are direct antiglobulin test (DAT) positive with complement (C3) only would be expected to be negative. However, elution studies performed on RBCs that are DAT positive with C3 only can produce clinically significant results. Identifying how often clinically relevant information is obtained when elutions are performed on samples DAT positive with C3 alone would aid in developing guidelines for elution performance on these samples and reducing performance of eluates on such samples with clinically insignificant results. Patient samples that are DAT positive with C3 only submitted over an 11.5-month period at the American Red Cross' Immunohematology Reference Laboratory locations were identified. The eluate result, serum result, transfusion history, and patient diagnosis were captured and analyzed. In total, 1171 samples that were DAT positive with C3 only were identified and, of those, 321 (27%) samples had an elution performed. A nonreactive eluate was the most common result. Alloantibodies were identified in 19 (6%) eluates. Panagglutination/autoantibodies was identified in 71 (22%) eluates. Informative eluates were identified as those eluates showing any alloantibody, regardless of serum results, or panagglutination/autoantibody present in the eluate but not concurrently present in the serum (n = 30,9%). Guidelines based on recent transfusion history, indicators of active hemolysis, and autoimmune reactivity concurrently in the serum should be implemented to identify clinically significant information and to reduce the number of uninformative elutions performed.

酸洗脱用于从红细胞(RBC)表面回收IgG抗体。仅补体(C3)直接抗球蛋白试验(DAT)阳性的样品洗脱液预计为阴性。然而,仅对C3为DAT阳性的红细胞进行洗脱研究可以产生具有临床意义的结果。确定单独对C3阳性的DAT样品进行洗脱时获得临床相关信息的频率,将有助于制定这些样品的洗脱性能指南,并减少对临床结果不显著的样品的洗脱性能。仅在美国红十字会免疫血液学参考实验室提交的11.5个月的C3 DAT阳性患者样本被确定。收集并分析洗脱结果、血清结果、输血史和患者诊断。总共鉴定出1171例仅含C3的DAT阳性样本,其中321例(27%)样本进行了洗脱。非反应性洗脱液是最常见的结果。19例(6%)洗脱液中鉴定出同种抗体。71例(22%)洗脱液中检测到泛凝集/自身抗体。信息性洗脱液被鉴定为那些洗脱液显示任何同种异体抗体,无论血清结果如何,或洗脱液中存在凝血/自身抗体,但不同时存在于血清中(n = 30.9%)。应实施基于近期输血史、活动性溶血指标和血清自身免疫反应性的指南,以识别临床重要信息,并减少进行无信息洗脱的次数。
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引用次数: 0
Prevalence and clinical implications of unexpected red blood cell antibodies in a tertiary care hospital in Sri Lanka. 斯里兰卡一家三级保健医院意外红细胞抗体的流行和临床意义
Q4 Medicine Pub Date : 2025-03-26 Print Date: 2025-03-01 DOI: 10.2478/immunohematology-2025-003
Trileeshiya I Withanawasam, Nashma Sainudeen

Unexpected red blood cell (RBC) alloantibodies can lead to hemolytic transfusion reactions and hemolytic disease of the fetus and newborn (HDFN). Screening for these antibodies is essential to ensure transfusion safety and improve patient care. Prevalence and frequency of unexpected antibodies vary among populations, influenced by genetic and demographic factors. This study addresses the gap in data specific to University Hospital, General Sir John Kotelawala Defence University. A retrospective analysis was performed on 20,212 patients (40.74% pregnant women and 59.25% transfusion recipients) from November 2019 to August 2024, assessing the prevalence, distribution, and clinical relevance of RBC alloantibodies. The study found that 0.80 percent of patients were alloimmunized and 28.87 percent of the antibodies were clinically significant. Common antibodies included anti-Leb (27.27%) and anti-Lea (19.25%); anti-D was the most frequent among Rh antibodies. A significantly higher proportion of pregnant women were alloimmunized compared with transfusion recipients (p < 0.000). Among D- pregnant women, 5.45 percent were alloimmunized, mainly with anti-D. HDFN was identified with either maternal anti-D or anti-E. These findings emphasize the need for early antibody detection and monitoring to enhance transfusion safety, suggesting policy improvements for antibody screening in transfusion and antenatal care in Sri Lanka.

意外的红细胞(RBC)异体抗体可导致溶血性输血反应和胎儿和新生儿溶血性疾病(hddn)。筛查这些抗体对于确保输血安全和改善患者护理至关重要。受遗传和人口因素的影响,人群中意外抗体的患病率和频率各不相同。这项研究解决了约翰·科特拉瓦拉国防大学大学医院的具体数据差距。回顾性分析2019年11月至2024年8月20212例患者(40.74%孕妇和59.25%输血接受者),评估红细胞同种异体抗体的流行、分布和临床相关性。研究发现,0.80%的患者进行了同种异体免疫,28.87%的抗体具有临床意义。常见抗体有抗leb(27.27%)和抗lea (19.25%);Rh抗体中以抗d抗体最为常见。与输血接受者相比,接受同种异体免疫的孕妇比例明显更高(p < 0.000)。在D型孕妇中,5.45%的人进行了同种免疫,主要是抗D。hdn与母体抗d或抗e均有关联。这些发现强调了早期抗体检测和监测的必要性,以加强输血安全,建议改进斯里兰卡输血和产前保健中的抗体筛查政策。
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引用次数: 0
Contents. 内容。
Q4 Medicine Pub Date : 2025-03-26 Print Date: 2025-03-01 DOI: 10.2478/immunohematology-2025-001
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引用次数: 0
Anti-LW masquerading as anti-D in a D+ patient. 抗lw在D+患者中伪装成抗D。
Q4 Medicine Pub Date : 2025-03-26 Print Date: 2025-03-01 DOI: 10.2478/immunohematology-2025-0004
Bushra Moiz, Muhammad Hasan, Muhammad Salman, Bhawna Kumari, Emily Black, Yew-Wah Liew

LWa, LWab, LWb, and LWEM are the four main antigens of the Landsteiner-Weiner (LW) blood group system. LW expression may be weakened during pregnancy and immune dysregulation, with the subsequent appearance of anti-LW. Here, we describe a case of an elderly male patient in whom transfusion of red blood cells (RBCs) became challenging because of the presence of anti-LW. A 61-year-old male patient presented with shortness of breath and a hemoglobin level of 7.0 g/dL, requiring RBC transfusions. Serologic workup of his blood sample showed his RBCs to be group A, D+, but his serum was incompatible with several group A, D+ donor RBC units. Antibody screening showed preferential reactivity with D+ panel RBCs that was abolished when using 0.2 M dithiothreitol-treated RBCs. The patient's serum did not react with known RBCs of Rhnull and LW(a-) phenotypes but reacted strongly with D+ and D- cord RBCs. The patient's sample was genotyped as LW*A/A (c.299A), consistent with the LW(a+b-) phenotype. Subsequent bone marrow examination showed B-lymphoproliferative disorder. The patient required RBC transfusion support because of his underlying disease. Transfusion of group A, D- RBCs was uneventful. The expression of LW in this patient was possibly weakened by his underlying disease, leading to the development of anti-LW. No complications were seen after multiple transfusions of group A, D- RBC units.

LWa、LWab、LWb和LWEM是LW血型系统的四种主要抗原。妊娠和免疫失调期间,LW表达可能减弱,随后出现抗LW。在这里,我们描述了一例老年男性患者,由于抗lw的存在,红细胞(rbc)的输血变得具有挑战性。61岁男性患者,呼吸急促,血红蛋白7.0 g/dL,需要输血。血清学检查显示他的红细胞为A、D+组,但他的血清与几个A、D+组的供体红细胞不相容。抗体筛选显示,使用0.2 M二硫苏糖醇处理的红细胞时,与D+面板红细胞的优先反应性被消除。患者的血清与已知的Rhnull和LW(a-)型红细胞没有反应,但与D+和D-型红细胞反应强烈。患者样本基因分型为LW*A/A (c.299A),与LW(A +b-)表型一致。随后的骨髓检查显示b淋巴细胞增生性疾病。由于他的潜在疾病,病人需要输血支持。输注A、D-红细胞无大碍。该患者的LW表达可能因其基础疾病而减弱,导致抗LW的发展。多次输注A、D-红细胞单位均未见并发症。
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引用次数: 0
An update on the LAN blood group system. 局域网血型系统的更新。
Q4 Medicine Pub Date : 2025-03-26 Print Date: 2025-03-01 DOI: 10.2478/immunohematology-2025-005
Lilian Castilho

This update on the LAN blood group system (Peyrard T. A review of the Lan blood group system. Immunohematology 2013; 29:131-5) reports new ABCB6 alleles encoding Lan- and Lan(+wk) phenotypes and new functional aspects of the ABCB6 glycoprotein. The L AN blood group system (International Society of Blood Transfusion system 33) consists of one antigen: Lan.

本文更新局域网血型系统(Peyrard T.),回顾局域网血型系统。免疫血液学2013;29:131-5)报道了新的ABCB6等位基因编码Lan-和Lan(+wk)表型和ABCB6糖蛋白的新功能方面。Lan血型系统(国际输血协会系统33)由一种抗原组成:Lan。
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引用次数: 0
An update on the RHAG blood group system. 最新的RHAG血型系统。
Q4 Medicine Pub Date : 2025-03-26 Print Date: 2025-03-01 DOI: 10.2478/immunohematology-2025-002
Louise A Tilley

This update on the RHAG blood group system (ISBT 030) (Chou ST, Westhoff CM. The Rh and RhAG blood group systems. Immunohematology 2010;26:178-86) reports the addition of three new low-prevalence antigens carried on the Rh-associated glycoprotein (RhAG). Kg (previously 700045; now RHAG5) has been demonstrated to be antithetical to the previously described high-prevalence DSLK (RHAG3). Two further low-prevalence antigens (RHAG6 and RHAG7) are described, both resulting from rare missense RHAG mutations encoding amino acid changes predicted to be externally located. All three new low-prevalence antigens have been implicated in hemolytic disease of the fetus and newborn. The RHAG system now comprises six antigens, two of high prevalence and four of low prevalence, including one antithetical pair. RHAG4 has been made obsolete.

这是RHAG血型系统(ISBT 030)的更新(Chou ST, Westhoff CM)。Rh和RhAG血型系统。免疫血液学2010;26:18 8-86)报道了rh相关糖蛋白(RhAG)上添加的三种新的低流行抗原。Kg(以前为700045;现在RHAG5)已被证明与先前描述的高患病率DSLK (RHAG3)相反。另外两种低流行抗原(RHAG6和RHAG7)被描述,它们都是由罕见的错义RHAG突变产生的,这些突变编码的氨基酸变化被预测为位于外部。这三种新的低流行抗原都与胎儿和新生儿的溶血性疾病有关。RHAG系统现在包括六种抗原,两种高流行率和四种低流行率,包括一对对立的抗原。RHAG4已经过时了。
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引用次数: 0
Weak and partial D phenotyping: a comparison study between molecular and serologic results. 弱和部分D表型:分子和血清学结果的比较研究。
Q4 Medicine Pub Date : 2024-12-31 Print Date: 2024-12-01 DOI: 10.2478/immunohematology-2024-022
Crystal Theiler, Christine Lomas-Francis, Sunitha Vege, Marie-Claire Chevrier, Gabriel André Leiva-Torres, Margaret A Keller, Katherine Kaherl, Trina Coppolino, Susan T Johnson

Variant D antigens can cause variable serologic results when typing with Anti-D reagents. There is limited information regarding the ability of Anti-D reagents to differentiate between D variants defined by RHD genotyping. This study was performed to determine if a panel of 20 U.S. Food and Drug Administration-licensed Anti-D reagents can identify molecularly defined D variants. Red blood cells from 119 donors carrying variant RHD alleles were tested at immediate spin (IS) and/or by the indirect antiglobuin test (IAT) using conventional test tube and/or column agglutination technology. Reaction strength at IS and IAT was reviewed to determine whether a pattern of reactivity could be correlated with a specific D variant. Agglutination results from each sample with each Anti-D reagent were combined to assess overall reactivity. The sample set consisted of 21 D variants, based on prior RHD genotyping. Of these variants, nine categories had three or more samples used for analysis (N = 102); 25 RHD*01W.1, 15 RHD*01W.2, 14 RHD*01W.3, 17 RHD*09.01, 14 RHD*09.03, 4 RHD*01W.4, 23 RHD*07, 4 RHD*10.05, and 6 reference allele RHD*01. As expected, IS showed more negative or weak reactions, and IAT produced more positive reactions with 3+/4+ agglutination strength. RHD*01W.3 samples showed strongest reactivity at IS and IAT. Greatest variation in reactivity was observed with RHD*01W.2, showing weakest overall reactivity at IS. All weak D types had at least one sample that yielded a negative result and one sample with 4+ agglutination at IS. Although there were general patterns of reactivity for each variant tested, no one pattern defined all samples carrying the same RHD allele. This study demonstrated that even with 20 different Anti-D reagents, serologic testing alone is insufficient to define weak or partial D types, characterize the risk for alloanti-D, or determine candidacy for Rh immune globulin. The results illustrate how multiple Anti-D reagents can be used to identify samples that should be reflexed to molecular testing.

当用抗-D试剂分型时,不同的D抗原可引起不同的血清学结果。关于抗-D试剂区分由RHD基因分型定义的D变体的能力的信息有限。这项研究是为了确定20种美国食品和药物管理局许可的抗D试剂是否可以识别分子定义的D变体。采用常规试管和/或柱凝集技术,对携带变异RHD等位基因的119名献血者的红细胞进行即时自旋(IS)和/或间接抗球蛋白试验(IAT)检测。对IS和IAT的反应强度进行了回顾,以确定反应性模式是否与特定的D变体相关。每个样品与每种Anti-D试剂的凝集结果合并评估总体反应性。根据先前的RHD基因分型,样本集包括21个D变体。在这些变体中,9个类别有3个或更多的样本用于分析(N = 102);25 RHD * 01 w。1,15 rhd * 01w。2,14 rhd * 01w。3、17 rhd *09.01, 14 rhd *09.03, 4 rhd * 01w。4,23个RHD*07, 4个RHD*10.05, 6个参考等位基因RHD*01。正如预期的那样,IS的凝集反应多为阴性或弱反应,而IAT的凝集反应多为3+/4+的阳性反应。RHD * 01 w。3个样品在IS和IAT反应性最强。RHD*01W的反应性变化最大。2,整体反应性在IS处最弱。所有弱D型至少有一个样品产生阴性结果,一个样品在IS上有4+凝集。虽然每个测试的变异都有一般的反应模式,但没有一种模式定义所有携带相同RHD等位基因的样本。该研究表明,即使使用20种不同的抗-D试剂,单独的血清学检测也不足以确定弱或部分D型,表征异体抗-D的风险,或确定Rh免疫球蛋白的候选性。结果说明了如何使用多种Anti-D试剂来识别应该反射到分子测试的样品。
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引用次数: 0
期刊
Immunohematology
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