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Blue-Green Neutrophil and Monocytes Inclusion Bodies: First Pediatric Case Report 蓝绿色中性粒细胞和单核细胞包涵体:第一例儿科病例报告。
IF 2.3 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-10 DOI: 10.1111/ijlh.70012
Lucille De Maria, Joy Mouanes-Abelin, Françoise Frapech, Corinne Ferrero-Vacher, Pierre Toulon
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引用次数: 0
Sysmex Cell Population Data for Diagnosing Infection in Patients With Suspected Sepsis in the Emergency Department Sysmex细胞群数据用于诊断急诊疑似脓毒症患者的感染。
IF 2.3 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-10-03 DOI: 10.1111/ijlh.70008
Kristin E. Wickstrøm, Aleksander Rygh Holten, Christian Prebensen, Alvaro Köhn-Luque, Valeria Vitelli, Erik Koldberg Amundsen

Objectives

Early diagnosis of suspected sepsis is crucial to improve patient survival. Cell population (CP) data, a set of leucocyte research parameters from hematology instruments, has a potential as markers for infection. The aim of this study was to investigate the diagnostic accuracy for infection of CP variables from Sysmex XN instruments in patients with suspected sepsis in the emergency department (ED).

Methods

Adult patients with suspected sepsis in the ED were included. CP variables, C-reactive protein (CRP), and post hoc assessments of infection were recorded. Logistic regression and machine learning methods were used to develop multivariable models, which were evaluated by area under the receiver operating curve (AUC) and calibration plots.

Results

The development cohort and the validation cohort consisted of 600 and 656 patients, respectively. Univariate analyses revealed that complexity in monocytes (MO-X); AUC of 0.78 (0.74, 0.82), reactivity intensity of neutrophils (NEUT-RI); 0.72 (0.67, 0.76), and CRP 0.87 (0.84, 0.90) had the highest diagnostic accuracy for infection. A final multivariable model (the optimal model) using Multilayer perceptron (MLP), including MO-X, NEUT-RI, monocyte size (MO-Z), and neutrophil size (NE-FSC), had an AUC of 0.86 (0.85, 0.87) in the development cohort and 0.78 (0.74, 0.82) in the validation cohort with reasonable calibration. Including CRP in this model further improved accuracy and calibration.

Conclusions

Sysmex CP variables may help diagnose infections in the ED. However, the lack of well-described calibration procedures and quality assurance for non-IVD approved CP variables is an impediment to clinical implementation.

目的:早期诊断疑似脓毒症对提高患者生存率至关重要。细胞群(CP)数据是一组来自血液学仪器的白细胞研究参数,具有作为感染标志物的潜力。本研究的目的是探讨Sysmex XN仪器对急诊疑似败血症患者CP变量感染的诊断准确性。方法:选取在急诊科疑似脓毒症的成人患者。记录CP变量、c反应蛋白(CRP)和事后感染评估。采用Logistic回归和机器学习方法建立多变量模型,并通过受试者工作曲线下面积(AUC)和校准图对模型进行评估。结果:开发队列和验证队列分别包括600例和656例患者。单因素分析显示单核细胞(MO-X)的复杂性;AUC为0.78(0.74,0.82),中性粒细胞反应强度(NEUT-RI);0.72(0.67, 0.76)和CRP 0.87(0.84, 0.90)对感染的诊断准确率最高。使用多层感知器(MLP)的最终多变量模型(最优模型),包括MO-X、NEUT-RI、单核细胞大小(MO-Z)和中性粒细胞大小(NE-FSC),在合理校准的情况下,开发队列的AUC为0.86(0.85,0.87),验证队列的AUC为0.78(0.74,0.82)。在该模型中加入CRP进一步提高了精度和校准。结论:Sysmex CP变量可能有助于诊断急诊科感染。然而,缺乏良好描述的校准程序和对非ivd批准的CP变量的质量保证是临床实施的障碍。
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引用次数: 0
Atypical Lymphocytosis Induced by T Cell-Engaging Therapy in Patients With Hematological Malignancies T细胞介入治疗在血液病患者中诱导的非典型淋巴细胞增多症。
IF 2.3 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-09-27 DOI: 10.1111/ijlh.70007
Tae-Shin Kim, Hyun Kyung Kim, Seon Young Kim, Yoon Hwan Chang

Introduction

Atypical lymphocytes (ALYs) are activated lymphocytes with distinct morphological characteristics, often observed in various infections, autoimmune diseases, drug reactions, and malignancies. Their appearance may resemble leukemic or lymphoma cells, making it essential to differentiate ALYs, particularly in patients with hematological malignancies. With the advent of T-cell engagers (TCEs), a novel class of immuno-oncology drugs, this study aimed to investigate their effect on peripheral blood profiles, including ALYs.

Methods

We retrospectively analyzed complete blood count (CBC) data and peripheral blood morphology from 28 patients enrolled in clinical trials of various TCEs targeting multiple myeloma and B-cell lymphomas. The drugs studied included cevostamab, linvoseltamab, glofitamab, teclistamab, talquetamab, elranatamab, and epcoritamab.

Results

A transient increase in ALYs was observed in 11 of the 28 patients treated with TCEs. This was confirmed by changes in cell morphology and flow cytometric parameters obtained from the CBC analyzer. ALY elevation appeared to be influenced by drug type, administration route, and combination therapies. In addition, a sudden and transient decrease in both monocytes and lymphocytes was noted in peripheral blood following cevostamab treatment.

Conclusion

The observed increase in ALYs likely reflects immune activation induced by TCEs. Understanding ALY dynamics during TCE treatment is crucial for clinicians and pathologists when interpreting patient test results. Furthermore, ALY testing may serve as a potential marker for predicting the effectiveness of TCE therapies.

非典型淋巴细胞(ALYs)是具有独特形态特征的活化淋巴细胞,常见于各种感染、自身免疫性疾病、药物反应和恶性肿瘤。它们的外观可能类似于白血病或淋巴瘤细胞,因此必须区分ALYs,特别是在血液系统恶性肿瘤患者中。随着一类新型免疫肿瘤药物t细胞结合物(TCEs)的出现,本研究旨在研究它们对包括ALYs在内的外周血谱的影响。方法:我们回顾性分析了28名患者的全血细胞计数(CBC)数据和外周血形态,这些患者参加了针对多发性骨髓瘤和b细胞淋巴瘤的各种TCEs临床试验。所研究的药物包括头孢司他单、利invoseltamab、格非他单、teclistamab、talquetamab、elranatamab和epcoritamab。结果:在28例接受TCEs治疗的患者中,有11例ALYs出现短暂性升高。这是由CBC分析仪获得的细胞形态和流式细胞术参数的变化证实的。ALY升高似乎受药物类型、给药途径和联合治疗的影响。此外,在头孢司他单抗治疗后,外周血单核细胞和淋巴细胞均出现突然和短暂的减少。结论:观察到的ALYs增加可能反映了TCEs诱导的免疫激活。临床医生和病理学家在解释患者检测结果时,了解TCE治疗期间ALY的动态是至关重要的。此外,ALY检测可能作为预测TCE治疗有效性的潜在标记物。
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引用次数: 0
ADAMTS13 Activity Testing: Evaluation of Two Automated Platforms for Diagnosis and Follow-Up of Thrombotic Thrombocytopenic Purpura ADAMTS13活性测试:两种诊断和随访血栓性血小板减少性紫癜的自动化平台的评估。
IF 2.3 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-09-26 DOI: 10.1111/ijlh.70004
Margot Cornette, Katrien M. J. Devreese

Introduction

Thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening thrombotic microangiopathy characterized by a severe deficiency of ADAMTS13 activity, typically defined as less than 10 IU/dL. Rapid and reliable measurement of ADAMTS13 activity is crucial for both timely diagnosis and effective long-term patient monitoring. While ELISA-based methods are widely used, automated assays offer potential advantages in terms of turnaround time and standardization. This study evaluates two automated ADAMTS13 activity assays, HemosIL AcuStar ADAMTS13 Activity Assay (Werfen) and TECHNOFLUOR ADAMTS13 Activity (Technoclone), in comparison to the TECHNOZYM ADAMTS13 Activity ELISA (Technoclone).

Methods

ADAMTS13 activity was measured in 100 patient samples using three assays: TECHNOZYM ADAMTS13 Activity ELISA, HemosIL AcuStar ADAMTS13 Activity, and TECHNOFLUOR ADAMTS13 Activity. Analytical performance and method comparison were assessed. Additionally, calibration against the WHO standard was evaluated.

Results

Both automated assays demonstrated high precision, with lower coefficients of variation (CV) compared to the ELISA. The HemosIL assay showed CVs ranging from 4.6% to 7.1%, while the TECHNOFLUOR assay exhibited CVs between 3.0% and 3.3%. ADAMTS13 activity measurements obtained with ELISA were significantly higher than those from both automated assays, which showed no statistically significant difference between them. Both automated assays achieved a sensitivity of 100%, with one false-positive TTP classification. The HemosIL assay showed the greatest bias between WHO and manufacturer-based calibrations.

Conclusion

The automated systems exhibit strong performance and rapid turnaround times, making them well-suited for routine ADAMTS13 determination. Standardization and calibration against international benchmarks, such as the WHO standard, is essential to minimize inter-assay variability and ensure reliable clinical interpretation.

前言:血栓性血小板减少性紫癜(TTP)是一种罕见但危及生命的血栓性微血管疾病,其特征是ADAMTS13活性严重缺乏,通常定义为低于10 IU/dL。快速可靠地测量ADAMTS13活性对于及时诊断和有效的长期患者监测至关重要。虽然基于elisa的方法被广泛使用,但自动化分析在周转时间和标准化方面提供了潜在的优势。本研究评估了两种自动化的ADAMTS13活性测定方法,即haemsil AcuStar ADAMTS13活性测定(Werfen)和TECHNOFLUOR ADAMTS13活性测定(Technoclone),与TECHNOZYM ADAMTS13活性ELISA (Technoclone)进行比较。方法:采用三种检测方法测定100例患者样品中的ADAMTS13活性:TECHNOZYM ADAMTS13活性ELISA、haemsil AcuStar ADAMTS13活性和TECHNOFLUOR ADAMTS13活性。评估分析性能和方法比较。此外,根据世卫组织标准进行了校准评估。结果:与ELISA相比,两种自动检测方法均具有较高的准确度,变异系数(CV)较低。haemsil检测的CVs范围为4.6%至7.1%,而TECHNOFLUOR检测的CVs范围为3.0%至3.3%。ELISA获得的ADAMTS13活性测量值显著高于两种自动测定法,两者之间无统计学差异。两种自动检测方法均达到100%的灵敏度,仅有一例TTP假阳性分类。haemsil测定显示在世卫组织和基于制造商的校准之间存在最大偏差。结论:自动化系统表现出强大的性能和快速的周转时间,使其非常适合常规的ADAMTS13测定。根据国际基准(如世卫组织标准)进行标准化和校准对于最大限度地减少测定间的差异和确保可靠的临床解释至关重要。
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引用次数: 0
Transcriptome Analysis Identifies Functional and Prognostic Hypoxia-Associated Genes in Multiple Myeloma 转录组分析鉴定多发性骨髓瘤的功能和预后缺氧相关基因。
IF 2.3 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-09-26 DOI: 10.1111/ijlh.70009
Lijia Hou, Jing Zhang, Qian Ran, Zhongjun Li, Maoshan Chen

Introduction

Multiple myeloma (MM) is an incurable clonal B-cell malignancy characterized by the accumulation of neoplastic plasma cells in the bone marrow (BM). Many pieces of evidence indicate that hypoxia promotes MM progression, but the underlying mechanisms are not well known.

Methods

We analyzed gene expression profiles of 3 MM cell lines under hypoxia and the MMRF CoMMpass project. We validated the expression patterns of hypoxia-associated genes (HAGs) in CD138+ BM cells from MM patients at different stages. Single-cell RNA sequencing data were used to analyze the performance of HAGs in the BM microenvironment.

Results

We identified 17 HAGs differentially expressed in three MM cell lines under hypoxia. While in the MMRF project, we identified 92 differentially expressed HAGs in newly diagnosed MM patients. MM cell lines and the MMRF project shared 9 HAGs, including ADM, BNIP3L, EGLN1, FAM162A, HMOX1, PDK1, PLOD1, STAT5B, and TFRC. Notably, 8 of them were significantly associated with the overall survival of MM patients, and 6 were significantly associated with the MM patient survival in the first year after diagnosis. Then, hypoxia pressure scores calculated using these genes displayed significant differences between MM patients and healthy individuals. Further, we validated the expression patterns of HAGs using another cohort data and performed qRT-PCR using our own samples, and the results confirmed severe hypoxia existed in plasma cells and other cell types of the BM microenvironment of MM patients compared to healthy individuals.

Conclusion

Taken together, our findings may contribute to the treatment and prognosis prediction of MM patients.

简介:多发性骨髓瘤(MM)是一种无法治愈的克隆性b细胞恶性肿瘤,其特征是肿瘤浆细胞在骨髓(BM)中积累。许多证据表明,缺氧促进MM的进展,但潜在的机制尚不清楚。方法:分析3株MM细胞系在缺氧和MMRF CoMMpass项目下的基因表达谱。我们验证了缺氧相关基因(HAGs)在不同阶段MM患者CD138+ BM细胞中的表达模式。单细胞RNA测序数据用于分析HAGs在BM微环境中的表现。结果:在缺氧条件下,我们鉴定出17种HAGs在3种MM细胞系中差异表达。而在MMRF项目中,我们在新诊断的MM患者中发现了92个差异表达的hag。MM细胞系和MMRF项目共有9个HAGs,包括ADM、BNIP3L、EGLN1、FAM162A、HMOX1、PDK1、PLOD1、STAT5B和TFRC。值得注意的是,其中8项与MM患者总生存期显著相关,6项与MM患者诊断后1年生存期显著相关。然后,使用这些基因计算的缺氧压力评分显示MM患者与健康个体之间存在显着差异。此外,我们利用其他队列数据验证了HAGs的表达模式,并利用我们自己的样本进行了qRT-PCR,结果证实与健康个体相比,MM患者BM微环境的浆细胞和其他细胞类型存在严重缺氧。结论:我们的研究结果可能有助于MM患者的治疗和预后预测。
{"title":"Transcriptome Analysis Identifies Functional and Prognostic Hypoxia-Associated Genes in Multiple Myeloma","authors":"Lijia Hou,&nbsp;Jing Zhang,&nbsp;Qian Ran,&nbsp;Zhongjun Li,&nbsp;Maoshan Chen","doi":"10.1111/ijlh.70009","DOIUrl":"10.1111/ijlh.70009","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Multiple myeloma (MM) is an incurable clonal B-cell malignancy characterized by the accumulation of neoplastic plasma cells in the bone marrow (BM). Many pieces of evidence indicate that hypoxia promotes MM progression, but the underlying mechanisms are not well known.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed gene expression profiles of 3 MM cell lines under hypoxia and the MMRF CoMMpass project. We validated the expression patterns of hypoxia-associated genes (HAGs) in CD138+ BM cells from MM patients at different stages. Single-cell RNA sequencing data were used to analyze the performance of HAGs in the BM microenvironment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified 17 HAGs differentially expressed in three MM cell lines under hypoxia. While in the MMRF project, we identified 92 differentially expressed HAGs in newly diagnosed MM patients. MM cell lines and the MMRF project shared 9 HAGs, including ADM, BNIP3L, EGLN1, FAM162A, HMOX1, PDK1, PLOD1, STAT5B, and TFRC. Notably, 8 of them were significantly associated with the overall survival of MM patients, and 6 were significantly associated with the MM patient survival in the first year after diagnosis. Then, hypoxia pressure scores calculated using these genes displayed significant differences between MM patients and healthy individuals. Further, we validated the expression patterns of HAGs using another cohort data and performed qRT-PCR using our own samples, and the results confirmed severe hypoxia existed in plasma cells and other cell types of the BM microenvironment of MM patients compared to healthy individuals.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Taken together, our findings may contribute to the treatment and prognosis prediction of MM patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"48 1","pages":"140-149"},"PeriodicalIF":2.3,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145180002","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}
引用次数: 0
Predictive Performance of Neutrophil Parameter for Neutrophil Recovery From Prolonged Neutropenia 中性粒细胞参数对长期中性粒细胞减少后中性粒细胞恢复的预测性能。
IF 2.3 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-09-26 DOI: 10.1111/ijlh.70002
Kazutoshi Ebisawa, Masaki Tanibuchi, Kunitoshi Fukazawa, Takahiro Takeuchi

Introduction

Infectious complications occurring in patients with neutropenia remained one of the major causes of mortality in the treatment of hematologic malignancies. Rapid and exact prediction of neutrophil recovery would be helpful for timely and appropriate management of these complications.

Objective

The aim of this study was to evaluate the performance of neutrophil parameters, especially NE-WX, for predicting the timing of neutrophil recovery.

Materials and Methods

We retrospectively reviewed patients who were hospitalized in our department and analyzed absolute neutrophil counts (ANC), NE-WX, and monocyte counts.

Results

Median NE-WX and ANC of 2428 blood tests for 154 patients was 334 (Interquartile range (IQR): 312–386) and 3.124 × 109/L (IQR: 1.165–6.136 × 109/L). When NE-WX ranged from 0 to 100 or from 101 to 200, median ANCs were 0.02 × 109/L (IQR: 0.01–0.02 × 109/L) or 0.03 × 106/L (IQR: 0.02–0.623 × 109/L), respectively. Such extreme low NE-WX levels were observed only in patients with very severe neutropenia, which was defined as ANC of less than 0.2 × 109/L. Furthermore, analyses of chronological changes of NE-WX and ANC elucidated that although the behaviors of these parameters were basically parallel, recovery of ANC from neutropenia was preceded by the recovery of NE-WX (15 vs. 18 days; p < 0.01).

Conclusion

Our analyses revealed that low NE-WX levels were observed only in patients with very severe neutropenia, and in these cases, increases in NE-WX levels might predict the timing of neutrophil recovery.

中性粒细胞减少患者的感染性并发症仍然是恶性血液病治疗中死亡的主要原因之一。快速准确地预测中性粒细胞恢复情况有助于及时、适当地处理这些并发症。目的:本研究的目的是评估中性粒细胞参数,特别是NE-WX的性能,以预测中性粒细胞恢复的时间。材料和方法:我们回顾性分析了在我科住院的患者,并分析了绝对中性粒细胞计数(ANC)、NE-WX和单核细胞计数。结果:154例患者2428项血液检查NE-WX和ANC的中位值分别为334(四分位间距(IQR): 312 ~ 386)和3.124 × 109/L (IQR: 1.165 ~ 6.136 × 109/L)。NE-WX为0 ~ 100和101 ~ 200时,中位acs分别为0.02 × 109/L (IQR: 0.01 ~ 0.02 × 109/L)和0.03 × 106/L (IQR: 0.02 ~ 0.623 × 109/L)。这种极低的NE-WX水平仅在非常严重的中性粒细胞减少症患者中观察到,其定义为ANC小于0.2 × 109/L。此外,NE-WX和ANC的时间变化分析表明,尽管这些参数的行为基本平行,但中性粒细胞减少后ANC的恢复先于NE-WX的恢复(15天vs. 18天)。p结论:我们的分析显示,NE-WX水平低仅在非常严重的中性粒细胞减少患者中观察到,在这些病例中,NE-WX水平的升高可能预测中性粒细胞恢复的时间。
{"title":"Predictive Performance of Neutrophil Parameter for Neutrophil Recovery From Prolonged Neutropenia","authors":"Kazutoshi Ebisawa,&nbsp;Masaki Tanibuchi,&nbsp;Kunitoshi Fukazawa,&nbsp;Takahiro Takeuchi","doi":"10.1111/ijlh.70002","DOIUrl":"10.1111/ijlh.70002","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Infectious complications occurring in patients with neutropenia remained one of the major causes of mortality in the treatment of hematologic malignancies. Rapid and exact prediction of neutrophil recovery would be helpful for timely and appropriate management of these complications.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim of this study was to evaluate the performance of neutrophil parameters, especially NE-WX, for predicting the timing of neutrophil recovery.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>We retrospectively reviewed patients who were hospitalized in our department and analyzed absolute neutrophil counts (ANC), NE-WX, and monocyte counts.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Median NE-WX and ANC of 2428 blood tests for 154 patients was 334 (Interquartile range (IQR): 312–386) and 3.124 × 10<sup>9</sup>/L (IQR: 1.165–6.136 × 10<sup>9</sup>/L). When NE-WX ranged from 0 to 100 or from 101 to 200, median ANCs were 0.02 × 10<sup>9</sup>/L (IQR: 0.01–0.02 × 10<sup>9</sup>/L) or 0.03 × 10<sup>6</sup>/L (IQR: 0.02–0.623 × 10<sup>9</sup>/L), respectively. Such extreme low NE-WX levels were observed only in patients with very severe neutropenia, which was defined as ANC of less than 0.2 × 10<sup>9</sup>/L. Furthermore, analyses of chronological changes of NE-WX and ANC elucidated that although the behaviors of these parameters were basically parallel, recovery of ANC from neutropenia was preceded by the recovery of NE-WX (15 vs. 18 days; <i>p</i> &lt; 0.01).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our analyses revealed that low NE-WX levels were observed only in patients with very severe neutropenia, and in these cases, increases in NE-WX levels might predict the timing of neutrophil recovery.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"48 1","pages":"45-53"},"PeriodicalIF":2.3,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145152373","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}
引用次数: 0
Comparison of Erythrocyte Indices With A Newly Developed Mean Corpuscular Hemoglobin Concentration Based Formula for Differentiating β-Thalassemia Minor From Other Microcytic Hypochromic Anemia 红细胞指标与新建立的以红细胞血红蛋白平均浓度为基础的鉴别β-地中海贫血与其他小细胞性低色素贫血公式的比较。
IF 2.3 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-09-25 DOI: 10.1111/ijlh.14558
Yehezkiel Yonathan, Nina Susana Dewi, Agnes Rengga Indrati

Background

Erythrocyte indices are measuring tools for differentiating beta thalassemia (β-thalassemia) minor from other microcytic hypochromic anemias using routine hematological parameters. Although indices such as the Mentzer Index, Shine and Lal (S&L), Green and King, Ehsani, and Srivastava are widely applied, diagnostic accuracy remains limited when compared to hemoglobin electrophoresis, which serves as the gold standard.

Objective

To compare the performance of two newly developed erythrocyte formulas for identifying β-thalassemia minor in comparison with five commonly used indices.

Methods

A cross-sectional study was conducted on 54 males and 214 female subjects with microcytic hypochromic anemia. Two new formulas were developed based on Mean Corpuscular Hemoglobin Concentration (MCHC), a parameter available in simple hematologic analyzers. The first formula was derived using the binary logistic regression method (21.33 + 0.9MCH-1.3MCHC), while the second was constructed as a ratio of Mean Corpuscular Volume (MCV) and MCHC (MCV/MCHC2 × 100). Diagnostic performance was compared against other widely used erythrocyte indices.

Results

Shine and Lal Index had the highest sensitivity compared to all erythrocyte indices (98.65%). However, the newly developed formulas had the highest specificity (92.50% and 90.01%), positive predictive value (PPV) (93.48% and 91.55%), negative predictive value (NPV) (85.38% and 85.71%), accuracy (89.55% and 88.81%), Youden Index (79.66% and 77.85%), and Area Under the Curve (AUC) (0.932 and 0.934) compared to all erythrocyte indices.

Conclusion

The two new MCHC-based formulas had the best diagnostic performance compared with other erythrocyte indices, while Shine and Lal Index had the highest sensitivity.

背景:红细胞指数是使用常规血液学参数区分β-地中海贫血(β-地中海贫血)与其他小细胞性低色贫血的测量工具。虽然Mentzer Index、Shine and Lal (S&L)、Green and King、Ehsani和Srivastava等指标被广泛应用,但与作为金标准的血红蛋白电泳相比,诊断准确性仍然有限。目的:比较新研制的两种红细胞配方与5种常用指标鉴别β-地中海贫血的性能。方法:对男54例、女214例小细胞性低色素贫血患者进行横断面研究。基于简单血液学分析仪中可用的参数平均红细胞血红蛋白浓度(MCHC),开发了两个新的计算公式。第一个公式采用二元logistic回归法推导(21.33 + 0.9MCH-1.3MCHC),第二个公式采用平均红细胞体积(Mean Corpuscular Volume, MCV)与MCHC的比值(MCV/MCHC2 × 100)构建。诊断性能与其他广泛使用的红细胞指标进行比较。结果:Shine和Lal指数对所有红细胞指标的敏感性最高(98.65%)。与所有红细胞指标相比,新公式具有最高的特异性(92.50%、90.01%)、阳性预测值(PPV)(93.48%、91.55%)、阴性预测值(NPV)(85.38%、85.71%)、准确性(89.55%、88.81%)、约登指数(79.66%、77.85%)和曲线下面积(AUC)(0.932、0.934)。结论:两种基于mchc的新处方诊断效果最佳,其中Shine指数和Lal指数的敏感性最高。
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引用次数: 0
Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population-Specific Database 丙酮酸激酶缺乏症:伊朗人群中严重溶血性贫血的未确诊原因:来自四个家族的全外显子组测序和人群特异性数据库筛选的见解。
IF 2.3 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-09-18 DOI: 10.1111/ijlh.70003
Milad Rafat, Yassin Bouraqi, Jafar Mehrabi Sisakht, Azita Azarkeivan, Hossein Najmabadi, Maryam Neishabury

Introduction

Pyruvate kinase deficiency (PKD) is a potentially underdiagnosed cause of chronic hemolytic anemia worldwide and remains understudied in certain populations, including Iran. Here, we describe PKD diagnoses in seven Iranian patients from four consanguineous families. Additionally, we present evidence from a population-specific database that supports the widespread prevalence of this disease in the country.

Materials and Methods

Whole exome sequencing (WES) was performed on probands presenting with hyperbilirubinemia and severe hemolytic anemia, who were referred to us by specialists after exclusion of hemoglobinopathies, autoimmune hemolytic anemia, and G6PD deficiency, with no definitive diagnosis established. Family studies were conducted using Sanger sequencing. The Iranome database was screened for pathogenic PKLR mutations.

Results

Three distinct PKLR variants were identified in these families: a known pathogenic variant, a novel likely pathogenic variant, and a variant of unknown significance that had previously been reported only once in the compound heterozygous state in two Iranian siblings. Also, a retrospective analysis of the Iranome database revealed that 21 individuals from various Iranian ethnic groups, out of 1200, carried one of six distinct variants classified as pathogenic or likely pathogenic based on the American College of Medical Genetics and Genomics (ACMG) guidelines.

Discussion and Conclusion

This study provides new insights into the genetic and ethnic diversity of PKD and its prevalence in Iran. It also highlights critical risk factors for PKD in the Iranian population, including clinical and molecular diagnostic challenges, the prevalence of consanguineous marriages, and low public awareness regarding the risks of genetic disorders.

简介:丙酮酸激酶缺乏症(PKD)是世界范围内慢性溶血性贫血的潜在未被诊断的原因,在包括伊朗在内的某些人群中仍未得到充分研究。在这里,我们描述了来自四个近亲家庭的7名伊朗患者的PKD诊断。此外,我们提供了来自特定人群数据库的证据,支持该疾病在该国广泛流行。材料和方法:对出现高胆红素血症和严重溶血性贫血的先显子进行全外显子组测序(WES),这些先显子在排除血红蛋白病、自身免疫性溶血性贫血和G6PD缺乏症后由专家转介给我们,没有明确的诊断。使用Sanger测序进行家庭研究。在Iranome数据库中筛选致病性plklr突变。结果:在这些家族中发现了三种不同的PKLR变异:一种已知的致病变异,一种新的可能的致病变异,以及一种未知意义的变异,这种变异以前只在两个伊朗兄弟姐妹的复合杂合状态中报道过一次。此外,对伊朗基因组数据库的回顾性分析显示,在1200名伊朗不同族裔群体中,有21人携带根据美国医学遗传学和基因组学学院(ACMG)指南分类为致病或可能致病的六种不同变体中的一种。讨论与结论:本研究为伊朗PKD的遗传和种族多样性及其患病率提供了新的见解。它还强调了伊朗人群中PKD的关键风险因素,包括临床和分子诊断方面的挑战、近亲婚姻的流行以及公众对遗传疾病风险的低认识。
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引用次数: 0
Prolonged Heparin Re-Exposure in a Patient With Previous Heparin-Induced Thrombocytopenia (HIT) 既往肝素诱导的血小板减少症(HIT)患者肝素再暴露时间延长。
IF 2.3 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-09-17 DOI: 10.1111/ijlh.14552
Christopher Pleyer, Gina Ney, Khanh Nghiem, Shelley Kalsi, Charles Bolan, Katherine R. Calvo, Michelly K. Sampaio de Melo, Douglas R. Stewart, James Maiarana, Arjun Kanuri, Laura Tosi, Jo-Ann I. Sheppard, Theodore E. Warkentin
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引用次数: 0
The Extended Complete Blood Count Requires a Transition From the Abbreviation of Indices to Their Digital Hierarchy and to the Graphical Representation of Results 扩展全血计数需要从指数的缩写过渡到数字层次和结果的图形表示。
IF 2.3 4区 医学 Q3 HEMATOLOGY Pub Date : 2025-09-16 DOI: 10.1111/ijlh.70006
Valeri P. Maltsev
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引用次数: 0
期刊
International Journal of Laboratory Hematology
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