red cell genotyping

红细胞基因分型
  • 文章类型: Journal Article
    背景:温暖的自身抗体(WAAs)在使用传统方案(TP)确定合适的产品时会导致延迟和额外费用。2013年,CarterBloodCare免疫血液学参考实验室(IRL)为WAA患者引入了分子方案(MP)。
    方法:对2004年11月至2020年9月提交IRL的样本记录进行回顾性审查。推荐人,同种抗体(ies),性别,并记录了年龄。此外,记录MP患者表型匹配红细胞(RBC)所需的常见临床显著抗原的计数.为了进一步分析使用WAA测试患者的费用和时间,选择300名患者。
    结果:对转诊医院的平均费用和在IRL中进行测试所花费的时间的分析确定了两次或更多次转诊时的节省。总的来说,研究中300名患者中有219名(73%)达到或超过了转诊人数。进一步的分析表明,尽管WAA患者(n=300)的人口统计学特征相似,在TP(M=264.18,SD=15.06)和MP(M=156.00,SD=90.37)的平均时间测试患者之间存在统计学上的显着差异,t(157)=14.46,p<.001,95%置信区间[CI](93.41-122.97)。此外,假设每个患者每次转诊接受两次红细胞,在TP(M=1222.58,SD=165.69)和MP(M=1269.78,SD=433.52)的患者医院平均费用之间没有统计学上的显着差异,t(192)=-1.25,p=.214,95%CI(-121.95-27.54)。
    结论:MP有效节省了WAA患者的测试时间,这有利于转诊医院,病人,和IRLs。预防性表型匹配血液的费用可以忽略不计,MP将减轻当前的一些实验室困难,同时为患者提供安全的产品。
    Warm autoantibodies (WAAs) cause delays and additional expenses while determining suitable products when using a traditional protocol (TP). In 2013, Carter BloodCare Immunohematology Reference Laboratory (IRL) introduced a molecular protocol (MP) for patients with WAAs.
    Retrospective review of records for samples referred to the IRL from November 2004 to September 2020, was performed. Referrals, alloantibody(ies), gender, and age were recorded. Additionally, the count of common clinically significant antigens needed for phenotypically matched red blood cells (RBCs) were recorded for patients in MP. To further analyze charges and time spent testing patients with WAAs, 300 patients were selected.
    Analysis of average charges to the referring hospital and time spent testing in the IRL determined savings at two or more referrals. Overall, 219 of 300 (73%) of patients in the study met or exceeded the number of referrals. Further analysis shows that while the population of patients with WAA (n = 300) shared similar demographics, there was a statistically significant difference between the average time testing patients in TP (M = 264.18, SD = 15.06) and MP (M = 156.00, SD = 90.37), t(157) = 14.46, p < .001, 95% confidence interval [CI] (93.41-122.97). Additionally, the assumption that each patient received two RBCs per referral provided no statistically significant difference between average charges to the hospitals of patients in TP (M = 1222.58, SD = 165.69) and MP (M = 1269.78, SD = 433.52), t(192) = -1.25, p = .214, 95% CI (-121.95-27.54).
    The MP has been effective in saving time spent testing patients with WAAs, which benefits referring hospitals, patients, and IRLs. Charges for prophylactic phenotypically matched blood were negligible and a MP would alleviate some of the current laboratory difficulties while providing safe products to patients.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    目的:红细胞抗原基因分型通常在需要慢性输血支持的患者中进行。如镰状细胞病和地中海贫血。ImmucorHEABeadChip™测试,除了评估红细胞抗原表达,也可以检测血红蛋白S(HbS)突变。我们的目的是将使用HEABeadChip™在澳大利亚红十字会Lifebood进行的HbS结果与常规血红蛋白研究进行比较。
    方法:评估了2017年至2019年间进行红细胞基因分型的地中海贫血和镰状细胞性状(SCT)或疾病(SCD)患者。将从HEABeadChip™获得的HbS结果与由参考病理学提供者进行的高效液相色谱(HPLC)获得的结果进行比较。
    结果:一百一十一个病例具有相当的HPLC和HEABeadChip™结果。在HEABeadChip™测试中,40例HbS阴性,31例显示HbS+,47例显示HbS++。有一个结果为“低信号”的案例。在HbS阴性病例中,没有SCT。由于HbS和β-地中海贫血突变的复合杂合性,HbS+组包含SCT和SCD的混合物。由于HbS的纯合性,HbS++组主要包含SCD。
    结论:HEABeadChip™是检测HbS的准确筛选测试。没有假阳性或假阴性。通过有针对性的基因分型程序鉴定具有HbS突变的供体将能够进行早期干预,改善捐助者管理,减少浪费。
    OBJECTIVE: Red cell antigen genotyping is commonly performed on patients requiring chronic transfusion support, such as sickle cell disease and thalassaemia. The Immucor HEA BeadChip™ test, in addition to assessing red cell antigen expression, can also detect the haemoglobin S (HbS) mutation. Our aim was to compare HbS results using HEA BeadChip™ performed at the Australian Red Cross Lifeblood with conventional haemoglobin studies.
    METHODS: Patients with thalassaemia and sickle cell trait (SCT) or disease (SCD) referred for red cell genotyping between 2017 and 2019 were assessed. The HbS result obtained from HEA BeadChip™ was compared with that obtained from high-performance liquid chromatography (HPLC) performed by the referring pathology provider.
    RESULTS: One-hundred and nineteen cases had comparable HPLC and HEA BeadChip™ results. On HEA BeadChip™ testing, 40 cases showed a negative HbS result, 31 cases showed HbS+ and 47 cases showed HbS++. There was one case with \'low signal\' result. Of the negative HbS cases, there was none with SCT. The HbS+ group comprised a mixture of SCT and SCD due to compound heterozygosity for HbS and β-thalassaemia mutations. The HbS++ group comprised predominantly SCD due to homozygosity for HbS.
    CONCLUSIONS: HEA BeadChip™ is an accurate screening test for the detection of HbS. There were no false positives or false negatives. The identification of donors with the HbS mutation through the targeted genotyping programme would enable early intervention, improved donor management and reduced wastage.
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  • 文章类型: Journal Article
    OBJECTIVE: To demonstrate the feasibility and effectiveness of extended matching of red blood cells (RBC) in practice.
    BACKGROUND: At present, alloimmunisation preventing matching strategies are only applied for specific transfusion recipient groups and include a limited number of RBC antigens. The general assumption is that providing fully matched RBC units to all transfusion recipients is not feasible. In this article we refute this assumption and compute the proportion of alloimmunisation that can be prevented, when all donors and transfusion recipients are typed for A, B, D plus twelve minor blood group antigens (C, c, E, e, K, Fya , Fyb , Jka , Jkb , M, S and s).
    METHODS: We developed a mathematical model that determines the optimal sequence for antigen matching. The model allows for various matching strategies, issuing policies and inventory sizes.
    RESULTS: For a dynamic inventory composition (accounting for randomness in the phenotypes supplied and requested) and an antigen identical issuing policy 97% and 94% of alloimmunisation events can be prevented, when respectively one and two RBC units per recipient are requested from an inventory of 1000 units. Although this proportion decreases with smaller inventory sizes, even for an inventory of 60 units almost 50% of all alloimmunisation events can be prevented.
    CONCLUSIONS: In case antigen of both donors and recipients are comprehensively typed, extended preventive matching is feasible for all transfusion recipients in practice and will significantly reduce transfusion-induced alloimmunisation and (alloantibody-induced) haemolytic transfusion reactions.
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  • 文章类型: Journal Article
    UNASSIGNED: Molecular red cell genotyping is devoid of serology limitations such as the scarcity of rare antisera and the possibility of inconclusive results due to biological interferences. Blood incompatibility can result in immune transfusion reactions such as haemolytic transfusion reactions or haemolytic disease of the foetus and newborn.
    UNASSIGNED: The study aimed to use molecular red cell genotyping to identify rare blood group donors among South African blood donors.
    UNASSIGNED: Red cell genotyping data were extracted retrospectively from the BIDS XT genotyping software in the Immunohaematology Reference Laboratory from January 2015 to August 2016. The ID CORE XT genotyping assay was used to identify the single nucleotide polymorphisms of 10 blood groups system alleles in 150 donors. Associations between the resultant genotypes and predicted phenotypes, ABO group, RhD type, race group and gender were studied.
    UNASSIGNED: Significant red cell genetic variability was noted among the numerous South African donor genotypes identified in this study. Genotyping further confirmed the presence of at least one of the 16 rare genotypes in 50 donors. Group O Black donors were associated with two rare blood types, while several other rare blood types were found only in White donors, supporting an association between ABO/Rh subtype, race group and rare blood types.
    UNASSIGNED: Targeted screening of donors for antigen-negative rare blood units for patients should be done to reduce the risk of haemolytic transfusion reactions and haemolytic disease of the foetus and newborn.
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  • 文章类型: Journal Article
    OBJECTIVE: Blood group genotyping has been used in different populations. This study aims at evaluating the genotypes of common blood group antigens in the Omani blood donors and to assess the concordance rate with obtained phenotypes.
    METHODS: Blood samples from 180 Omani donors were evaluated. Samples were typed by serological methods for the five blood group systems MNS, RH (RHD/RHCE), KEL, FY and JK. Samples were genotyped using RBC-FluoGene vERYfy eXtend kit (inno-train©). Predicted phenotypic variants for 70 red blood cell antigens among the MNS, RH (RHD/RHCE), KEL, FY, JK, DO, LU, YT, DI, VEL, CO and KN blood group systems were assessed.
    RESULTS: Simultaneous phenotype and genotype results were available in 130 subjects. Concordance rate was >95% in all blood group systems with exception of Fy(b+) (87%). Homozygous GATA-1 mutation leading to erythroid silencing FY*02N.01 (resulting in the Fy(b-)ES phenotype) was detected in 81/112 (72%) of genotyped samples. In addition, discrepant Fyb phenotype/genotype result was obtained in 14/112 samples; 13 of which has a heterozygous GATA-1 mutation and one sample with a wild GATA genotype. D and partial e c.733C>G variants expressing the V+VS+ phenotype were found in 22/121 (18.2%) and 14/120 (11.7%) of the samples, respectively. Di(a-b+), Js(a-b+), Yt(a+b-) and Kn(a+b-) genotype frequencies were 99.4%, 95.8%, 91.9% and 97.7%, respectively.
    CONCLUSIONS: In conclusion, we report a high frequency of FY*02N.01 allele due to homozygous c.-67T>C GATA-1 single-nucleotide variation. This is the first study reporting the detailed distribution of common and rare red cell genotypes in Omani blood donors.
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  • 文章类型: Journal Article
    Red cell genotyping has become widely available and now contributes to support transfusion of patients with hematologic diseases. This technology has facilitated the immunohematologic approach to antibody prevention, detection and identification. Donors, particularly rare donors, are most efficiently screened and identified by red cell genotyping. In transfused patients with challenging serologic reactivity, antibodies are more reliably identified when molecular typing information is available. Red cell genotyping of both donors and patients augments the selection of blood components. This technology, serving at the core of a real-time database inventory, is resulting in blood supply efficiencies. However, there is limited published evidence on the extent to which red cell genotyping has translated into improved clinical outcomes. Red cell alloimmunized patients may benefit the most in enhanced safety. For patients with antibodies to high-prevalence antigens, other than Rh, blood centers realized supply-chain efficiencies in the past decade. Prospective clinical trials and cost-effectiveness studies would contribute to further clarifying the optimal role of molecular testing in providing transfusion support for patients with hematologic diseases.
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  • 文章类型: Journal Article
    The development of red blood cell (RBC) alloantibodies and autoantibodies complicates transfusion therapy in sickle cell disease (SCD) patients. In an effort to reduce the risk of alloimmunization, some strategies have been used to provide antigen-matched RBC transfusions to patients with SCD in Brazil, including molecular matching in 3 levels: RH and K matching; extended matching (RH, KEL, FY, JK, MNS, DI), and extended matching including RHD and RHCE variant alleles. Molecular matching has shown clinical benefits to the patients with SCD, contributing significantly to reduce the rates of alloimmunization. Improvements in the clinical outcomes of the patients have also been observed as shown by an increase in their hemoglobin levels and reduction in their percentage of hemoglobin S as well as better in vivo RBC survival and diminished frequency of transfusions. However, prevention of RBC alloimmunization still remains a challenge in Brazil due to the difficulty to fulfill all transfusion requests of the patients with antigen-matching units, inaccuracy of RBC phenotyping, RBC transfusions outside the institution where the patient is treated, advanced age of some patients, the RBC antigen discrepancy between donors and recipients, and the presence of RH variants.
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  • 文章类型: Case Reports
    与标准成分疗法相比,新鲜全血(FWB)为在心脏直视手术中接受体外循环(CPB)的新生儿提供潜在益处:减少失血和随后的容量超负荷风险,改善凝血状态,CPB期间和之后的血小板计数较高,规避有限的血管通路,并显著减少供体暴露。获取FWB,然而,需要2-5天的准备,这通常排除了在新生儿时期需要CPB的新生儿的可用性。使用多学科方法和分子ABO/RHD基因分型羊水,我们制定了一项方案,允许采购FWB用于定时分娩,然后进行心脏直视手术.合格的受试者包括在出生后的最初几天中可能需要进行胎儿心脏异常诊断后进行遗传性羊膜穿刺术的患者。在严重胎儿心脏异常的产前诊断后,该协议已成功实施。利用产前时间段和使用分子基因分型进行产前胎儿血液分型的能力,为CPB的FWB可用性提供了新的范例,以改善围手术期。短期,以及由一些将接受CPB的最小和病情最重的患者组成的人群的长期结局。
    Compared to standard component therapy, fresh whole blood (FWB) offers potential benefits to neonates undergoing cardiopulmonary bypass (CPB) in the context of open cardiac surgery: decreased blood loss and subsequent risk of volume overload, improved coagulation status, higher platelet counts during and following CPB, circumvention of limited vascular access, and significantly reduced donor exposures. Obtaining FWB, however, entails 2-5 days of preparation, which often precludes its availability for neonates requiring CPB in the immediate newborn period. Using a multidisciplinary approach and molecular ABO/RHD genotyping on amniotic fluid, we developed a protocol to allow procurement of FWB for timed delivery followed by open cardiac surgery. Eligible subjects include patients undergoing genetic amniocentesis following the diagnosis of a fetal cardiac anomaly likely to require open surgical repair in the initial days after birth. This protocol has been successfully implemented following prenatal diagnosis of severe fetal cardiac anomalies. Taking advantage of the prenatal time period and the ability to perform fetal blood typing prenatally using molecular genotyping makes possible a new paradigm for the availability of FWB for CPB to improve perioperative, short-term, and long-term outcomes in a population comprised of some of the smallest and sickest patients who will undergo CPB.
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  • 文章类型: Journal Article
    BACKGROUND: Antigen-negative red cell transfusion is required for transfusion-dependent patients. We developed multiplex PCR for red cell genotyping and calculated the possibility of finding compatible predicted phenotypes in Thai blood donor populations according to red cell alloantibodies found among Thai patients.
    METHODS: 600 DNA samples obtained from unrelated healthy central and northern Thai blood donors were tested with the newly developed multiplex PCR for FY*A, FY*B, JK*A, JK*B, RHCE*e, RHCE*E, DI*A and GYP*Hut, GYP*Mur, GYP*Hop, GYP*Bun, and GYP*HF allele detections. Additionally, the possibility of finding compatible predicted phenotypes in two Thai blood donor populations was calculated to estimate the minimal number of tests needed to provide compatible blood.
    RESULTS: The validity of multiplex PCR using known DNA controls and the phenotyping and genotyping results obtained by serological and PCR-SSP techniques were in agreement. The possibility of finding at least one compatible blood unit for patients with multiple antibodies was comparable in Thai populations.
    CONCLUSIONS: The multiplex PCR for red cell genotyping simultaneously interprets 7 alleles and 1 hybrid GP group. Similar strategies can be applied in other populations depending on alloantibody frequencies in transfusion-dependent patients, especially in a country with limited resources.
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