International journal of laboratory hematology最新文献

{"title":"Cryptic KMT2A::MLLT10 Rearrangement in a Highly Aggressive Acute Myeloid Leukemia.","authors":"Gerasimos Tsilimidos, Ilaria Scarpelli, Françoise Solly, Marine Gossin, Amandine Segot, Jacqueline Pouw Schoumans, Sabine Blum","doi":"10.1111/ijlh.14423","DOIUrl":"https://doi.org/10.1111/ijlh.14423","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular Characterization of δβ Thalassemia/Hereditary Persistence of Fetal Hemoglobin and Its Correlation With Clinical and Hematological Profile; a Single Center Study in North India.","authors":"R Gupta, A Shah, K Gupta, D Chandra, A Sharma, K Rahman, M K Singh, S Yadav, R Kashyap","doi":"10.1111/ijlh.14419","DOIUrl":"https://doi.org/10.1111/ijlh.14419","url":null,"abstract":"<p><strong>Background: </strong>δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.</p><p><strong>Material and methods: </strong>This was a retrospective study where all samples with HbF level ≥ 5% and suspected to be δβ-thalassemia/HPFH, based on the HPLC, were included in the study over 3.5 years. The demographic and clinical details were retrieved from the electronic medical records. Gap-PCR was carried out to characterize the molecular defect for the HbF determinant, while amplification refractory mutation system (ARMS-PCR) was carried out for β-thalassemia genoyping. Clinical and laboratory parameters of heterozygous and homozygous/compound heterozygous δβ thalassemia deletions were compared.</p><p><strong>Results: </strong>A total of 65 individuals (0.8%) were diagnosed with δβ-thalassemia/HPFH; these included 45 (69%) patients in the heterozygous group and 20 (31%) cases in the homozygous/compound heterozygous subgroup. While all the carrier states were asymptomatic, 80% of the patients in the homozygous/compound heterozygous state were symptomatic with a thalassemia intermedia-like profile. The median Hb levels were 12.3 g/dL (range -9.5-18.2) and 8.0 g/dL (range 3.8-15.1) respectively. Molecular profiling identified heterozygous Asian Indian inversion deletion ^Gγ(^Aγδβ)⁰ mutation in 50% of cases, heterozygous HPFH-3 (Indian HPFH, 48.5 kb deletion) in 14% cases, and homozygous ^Gγ(^Aγδβ)⁰-thalassemia in 21% cases. Compound heterozygous HPFH-3/^Gγ(^Aγδβ)⁰ mutation with β-thalassemia was observed in 8.9% and 3.5%, respectively. In one case, the HbF determinant could not be identified. Heterozygous (HBB:c. 92+5G>C), was the most frequent co-inherited β-thalassemia mutation in the compound heterozygous patients.</p><p><strong>Conclusion: </strong>The study highlights that high HbF determinants, like δβ thalassemia and HPFH, are relatively more frequent in the Indian subcontinent, and their co-inheritance with β-thalassemia results in a moderately severe disease. Accurate identification of molecular defects is important for prenatal diagnosis and genetic counseling.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Zopiclone Overdose Is an Important and Under-Recognized Cause of Drug-Induced Oxidative Hemolysis: A Case Series Identified by Heinz Body Test Request.","authors":"Wing Kit Lam, Winnie Yim Fong Law, Sze Fai Yip","doi":"10.1111/ijlh.14421","DOIUrl":"https://doi.org/10.1111/ijlh.14421","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Applications of Bone Marrow CD34 Immunohistochemistry (BM CD34 IHC) Assay: International Council for Standardization in Hematology (ICSH) Guidelines.","authors":"Emina Emilia Torlakovic, Katherine R Calvo, Tracy George, Elizabeth Hyjek, Szu-Hee Lee, Anna Porwit, Elena Sabattini, Leonie Saft, Xiaoge Zhou, Alexandar Tzankov","doi":"10.1111/ijlh.14411","DOIUrl":"https://doi.org/10.1111/ijlh.14411","url":null,"abstract":"<p><strong>Introduction: </strong>Investigation of bone marrow (BM) trephine biopsies and/or clot sections by CD34 immunohistochemistry (IHC) testing has been used by pathologists for several decades, and its clinical value has been well established with QBEND10 being the most frequently used primary antibody (Ab) clone. However, most other parameters related to the IHC protocol as well as the readout vary widely between clinical laboratories and in the published literature. The ICSH Working Group having reviewed the published evidence has established guidelines that will help to harmonize performance and reporting of CD34 IHC on BM biopsies.</p><p><strong>Methods: </strong>The methodology is based on the published \"guidelines for guidelines\" (GRADE, AGREE) with modifications to the specific laboratory medicine environment and to specific key questions. Review of the published literature resulted in 49 articles relevant to clinical applications of the BM CD34 IHC. Five key questions were addressed including testing indications, technical performance, readout methodology, terminology, and reporting.</p><p><strong>Results: </strong>A total of 23 guidelines were grouped according to the key questions.</p><p><strong>Conclusion: </strong>BM CD34 IHC testing is complex with both the protocol and the pathologist's readout requiring validation to ensure reported results are reproducible and accurate. The readout/interpretation must be adapted to a specific purpose of the assay (clinicopathological question) and the type and overall sample quality. Standardized terminology and reporting are essential if CD34 IHC assay is being used for clinical diagnostics.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-World Retrospective Audit on the Use of the TechnoClone TECHNOSCREEN ADAMTS-13 Assay in the Diagnostic Process for Thrombotic Thrombocytopenic Purpura at LabPlus, New Zealand.","authors":"Stephen Hong Chun Wong, Gabriel Thalari, Anna Ruskova, Nicola Eaddy","doi":"10.1111/ijlh.14413","DOIUrl":"https://doi.org/10.1111/ijlh.14413","url":null,"abstract":"<p><strong>Introduction: </strong>The TECHNOSCREEN ADAMTS-13 assay (ADSC) is a new lateral flow test which is simple and quick to perform, with a high negative predictive value (NPV); it may improve the diagnostic workflow for TTP. LabPlus in Auckland, New Zealand, performs all ADAMTS13 tests in the Auckland and Northland regions. The ADSC was used at LabPlus between 2022 and 2023 as part of a protocol where results of 0 IU/mL and 0.1 IU/mL were confirmed with the TECHNOZYM ADAMTS-13 Activity chromogenic ELISA assay (ADATS). The aim was to improve cost efficiency by reducing the need for the labour-intensive ADATS, particularly in low probability requests. This retrospective audit analyses the efficacy and efficiency of the testing protocol.</p><p><strong>Methods: </strong>All ADAMTS-13 tests performed in the year before the ADSC (March 2021-March 2022) and after the ADSC protocol was introduced (March 2022-March 2023) were collected from the LabPlus laboratory information system (LIS), and correlated with clinical information from the electronic health record. Statistical analysis was performed.</p><p><strong>Results: </strong>Ninety-four test requests were audited. ADSC had an NPV of 100% on diagnostic samples. The protocol increased the median turn-around time (TAT) by 18 h (p = 0.01). If an ADSC of 0.1 IU/mL was taken as a negative, the median TAT was decreased by 17 h (p = 0.0003) in diagnostic samples from LabPlus adjacent hospitals.</p><p><strong>Conclusion: </strong>ADSC has a high NPV but did not improve TAT when used as part of a testing protocol for our central laboratory receiving samples from a large area.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Absolute Immature Platelet Count: An Accessible Biomarker to Distinguish Aplastic Anemia and Immune Thrombocytopenia.","authors":"Michelle Zhu, Prajwal Sharma, Mutlu Mete, Alper Olcal, Ibrahim Ibrahim, Weina Chen, Taha Bat","doi":"10.1111/ijlh.14418","DOIUrl":"https://doi.org/10.1111/ijlh.14418","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CBC With Differential and Cell Population Data in Prediction of Fever With Thrombocytopenia Syndrome.","authors":"Lixia Zhang, Shuxian Yang, Chen Cheng, Yuan Mu, Shiyang Pan","doi":"10.1111/ijlh.14414","DOIUrl":"https://doi.org/10.1111/ijlh.14414","url":null,"abstract":"<p><strong>Introduction: </strong>We aimed to identify additional predictors of severe fever with thrombocytopenia syndrome (SFTS), which has a significantly increasing global incidence.</p><p><strong>Methods: </strong>This retrospective study included 95 patients with SFTS and 30 healthy individuals. Complete blood count with differential was performed using Sysmex XN 9000 and Mindray BC-6800 Plus analyzers. Extended leukocyte cell population data (CPD) parameters were acquired using a Mindray BC-6800 Plus analyzer. Peripheral smears were identified, and SFTS virus (SFTSV) RNA was detected using real-time reverse transcription polymerase chain reaction.</p><p><strong>Results: </strong>Of 95 patients with SFTS at admission, 75.8% (72/95) presented leukopenia and 96.8% (92/95) thrombocytopenia with SFTS. Neutrophil left shift and smudge cells (32.4/WBC ± 28.2/WBC) were observed 100% (57/57) on the blood smear. Only 21.1% (21/57) of the reactive lymphocytes were > 5% (3.24% ± 3.35%). Moreover, 33.3% (19/57) of apoptotic lymphocytes and 8.8% (5/57) of nucleated red blood cells were present. Furthermore, 78.9% (45/57) of reactive plasmacytoid lymphocytes increased 3-5 days after admission and 61.1% (11/18) of the patients who died presented with dust blue inclusions in the neutrophils. Compared to the control group, Neu-Y and all lymphocyte and monocyte CPD parameters were significantly higher in all SFTS groups. Compared to the surviving patients with SFTS, Lym-Y in Group 2 (p < 0.05) was significantly lower, but Neu-Y and Mon-Z in Group 3 were higher (p < 0.001) in the death group.</p><p><strong>Conclusions: </strong>The cell count, peripheral blood morphology, and CPD parameters described in this study had a strong prompting effect on SFTSV infection.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence Estimation of Dysfibrinogenemia Using the Clauss-CWA Approach.","authors":"Atsuo Suzuki, Nobuaki Suzuki, Shuichi Okamoto, Shogo Tamura, Takeshi Kanematsu, Ryosuke Kikuchi, Tetsuhito Kojima, Tadashi Matsushita","doi":"10.1111/ijlh.14408","DOIUrl":"https://doi.org/10.1111/ijlh.14408","url":null,"abstract":"<p><strong>Introduction: </strong>The actual prevalence of the qualitative fibrinogen abnormalities dysfibrinogenemia and hypodysfibrinogenemia is unknown. The major reasons are that patients with dysfibrinogenemia are frequently asymptomatic, and a recommended screening test, the Clauss fibrinogen assay, cannot completely distinguish qualitative from quantitative abnormalities. We previously established a high-throughput screening test (Clauss-CWA) to identify dysfibrinogenemia with high specificity and sensitivity by the Clauss fibrinogen assay alone.</p><p><strong>Aim and methods: </strong>This was a single-center, observational study to estimate the prevalence of dysfibrinogenemia using Clauss-CWA technology. A total of 25 471 patients in Nagoya University Hospital were screened to identify patients with suspected dysfibrinogenemia. The suspected patients were investigated by further confirmatory analyses, such as antigenic fibrinogen determination, reptilase time, fibrin polymerization analysis, and scanning electron microscopy.</p><p><strong>Results and conclusions: </strong>Of the 25 471 enrolled patients, five with suspected dysfibrinogenemia were identified. Unfortunately, one patient was not confirmed due to a lack of plasma samples. The ratio of functional to antigenic fibrinogen was decreased, and the reptilase time was prolonged in the four patients. Interestingly, two of them showed normal functional fibrinogen levels due to acute inflammatory responses. Fibrin polymerization was impaired, and structural abnormalities were found in the fibrinogen from the patients. In some cases, functional fibrinogen levels may not be effective for identifying functional fibrinogen abnormalities. Further nationwide studies are needed to more precisely understand the epidemiology of dysfibrinogenemia.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concurrent Loss of CD16 in Granulocytes and CD14 in Mature Monocytes in a Patient With Pancytopenia: A Diagnostic Clue for Paroxysmal Nocturnal Hemoglobinuria.","authors":"Abhishek Prasad, Eric D Carlsen, Sergio Pina-Oviedo, Luis F Carrillo","doi":"10.1111/ijlh.14417","DOIUrl":"https://doi.org/10.1111/ijlh.14417","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of the 2023 ACR/EULAR Classification Criteria on START2 Antiphospholipid Registry.","authors":"Anna Aiello, Luca Sarti, Gilda Sandri, Daniela Poli, Piera Sivera, Doris Barcellona, Domenico Prisco, Attilia Maria Pizzini, Giuseppe Vercillo, Emilia Antonucci, Gualtiero Palareti, Vittorio Pengo","doi":"10.1111/ijlh.14416","DOIUrl":"https://doi.org/10.1111/ijlh.14416","url":null,"abstract":"<p><strong>Introduction: </strong>The recently published ACR/EULAR classification criteria score (3 points or more) both clinical and laboratory criteria to define the presence of antiphospholipid syndrome (APS). The clinical criteria have been better defined while laboratory criteria remain the same [lupus anticoagulant (LA), anticardiolipin (aCL) and anti ß2-Glycoprotein I (aß2GPI) antibodies] but with different impact (points) on the classification of patients. APS is excluded if more than 3 years separate positive test for antiphospholipid antibodies (aPL) and clinical manifestation.</p><p><strong>Methods: </strong>The present study evaluates how many patients would be excluded by the new criteria among those enrolled as APS in the START 2 antiphospholipid registry. The analysis includes 380 patients (274 APS and 106 carriers).</p><p><strong>Results: </strong>Of 274 patients classified as APS, 118 (43%) did not match the new ACR/EULAR criteria for various reasons. First, the determination of aCL and aß2GPI antibodies was performed by automated instrumentations not allowed in the new criteria. Second, laboratory test score was less than 3 and this was due to an isolated IgM aCL or IgM aß2GPI in most cases and to isolated LA unconfirmed after 12 weeks in few cases. Third, 2 patients had a positive laboratory tests more than 3 years after the clinical event. Of the 106 carriers, 62% had aCL and aß2GPI determined by ELISA thus meeting the ACL/EULAR laboratory criteria but were negative for clinical criteria.</p><p><strong>Discussion: </strong>This study shows that many patients classified as APS in the START 2 registry do not match the classification using the new ACR/EULAR criteria.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}