Journal of hematology最新文献

{"title":"Evaluating Hemoglobin Thresholds for Blood Transfusions in Oncology Patients Admitted to the Intensive Care Unit.","authors":"Barath Prashanth Sivasubramanian, Abijha Boban, Andrew Strike, Moyan Sun, Ania Izabela Rynarzewska, Hardeep Singh, Dhaval Patel","doi":"10.14740/jh2178","DOIUrl":"https://doi.org/10.14740/jh2178","url":null,"abstract":"<p><strong>Background: </strong>In the intensive care unit (ICU), up to 90% of patients develop anemia during their stay. However, evidence regarding transfusion practices in oncology patients requiring ICU-level care is limited. This study aimed to compare mortality, survival rate, and readmissions across three hemoglobin thresholds of transfusion (low < 7 g/dL, intermediate 7-8 g/dL, and high > 8 g/dL) among these patients.</p><p><strong>Methods: </strong>A retrospective analysis of 561 patients with cancer admitted to the ICU who received blood transfusions from 2017 to 2023 was performed. Univariate and multivariate analyses were utilized to compare three hemoglobin thresholds of transfusion. A P ≤ 0.05 was considered significant.</p><p><strong>Results: </strong>Of 561 patients, the transfusion burden was greater in the low threshold cohort (46.6%), followed by intermediate (29.3%) and high (24.1%) thresholds. The low threshold cohort required a longer duration of mechanical ventilation compared to the high threshold (P ≤ 0.03). The readmission rate was highest in the low threshold cohort compared to the others (30-day: 23.4% vs 11% vs 16.3%; 90-day: 3.1% vs 1.2% vs 2.2%). Mortality risk was elevated in patients transfused at high thresholds compared with those transfused at low thresholds (odds ratio (OR), 1.893; 95% confidence interval (CI), 1.093-3.281; P < 0.05), and mortality did not differ between the low and intermediate thresholds (P > 0.05). The intermediate threshold showed the highest survival probability, and the high threshold had the worst survival.</p><p><strong>Conclusions: </strong>In patients with malignancy admitted to the ICU, transfusions administered at levels < 7 g/dL were associated with a greater transfusion burden, longer mechanical ventilation, and higher 30- and 90-day readmissions. The high threshold was associated with poor survival. These findings highlight the need for prospective studies in ICU oncology on the blood transfusion threshold.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"15 2","pages":"80-89"},"PeriodicalIF":1.3,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13071945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Abnormal Eosinophils With Large, Distinctly Basophilic Granules (Harlequin Cells) on Peripheral Blood Smear: A Clue for Diagnosing Chronic Myeloid Leukemia.","authors":"Jennifer Cai, Changjun Yue, Sarah Tomassetti","doi":"10.14740/jh2196","DOIUrl":"https://doi.org/10.14740/jh2196","url":null,"abstract":"<p><strong>Background: </strong>Chronic myeloid leukemia (CML) often presents with hematologic findings that overlap with reactive leukocytosis and other myeloproliferative neoplasms (MPNs), creating diagnostic uncertainty that may delay targeted therapy or prompt unnecessary molecular testing. Harlequin cells-abnormal eosinophils containing basophilic granules-are well described in acute myeloid leukemia (AML) with <i>CBFB::MYH11</i> fusion, but their diagnostic relevance in CML has not been systematically assessed.</p><p><strong>Methods: </strong>We retrospectively reviewed 177 peripheral blood smears: 53 CML; 30 non-CML MPN and related disorders; 59 AML (including three with <i>CBFB::MYH11</i> fusion); 11 eosinophilia; and 24 reactive cytosis cases. Harlequin cells were stringently defined as abnormal eosinophils containing both typical eosinophilic granules and large, distinctly basophilic (not purplish-orange) cytoplasmic granules to exclude reactive mimics.</p><p><strong>Results: </strong>Harlequin cells were identified in 72% (38 out of 53) of CML cases, a frequency significantly higher than in non-CML MPN (10%, P < 0.01), AML without <i>CBFB::MYH11</i> fusion (3.6%, P < 0.01), eosinophilia (0%), and reactive cytosis (0%) groups. They were also observed in 67% (2/3) of AML with <i>CBFB::MYH11</i> fusion and in 20% (3/15) of primary myelofibrosis, but were absent in polycythemia vera, essential thrombocythemia, and chronic myelomonocytic leukemia. Strictly defined Harlequin cells were not found in any reactive condition.</p><p><strong>Conclusions: </strong>In the appropriate clinical context, strictly defined Harlequin cells on routine peripheral blood smears may serve as a sensitive and highly specific morphologic clue for CML. Recognition of this readily accessible feature may facilitate prompt <i>BCR::ABL1</i> confirmatory testing, reduce diagnostic ambiguity, and help avoid unnecessary ancillary studies.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"15 2","pages":"99-107"},"PeriodicalIF":1.3,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13071941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Luspatercept: From Bench to Bedside and Beyond in the Management of Ineffective Erythropoiesis.","authors":"Dhara Popat, Rajan Desai, Sheikh Abdullah, Siddhant Jain, Poornima Ramadas","doi":"10.14740/jh2163","DOIUrl":"https://doi.org/10.14740/jh2163","url":null,"abstract":"<p><p>Luspatercept is a novel erythroid maturation agent that has emerged as a significant advancement in the management of ineffective erythropoiesis. By targeting the transforming growth factor-β superfamily signaling pathway, Luspatercept enhances late-stage erythroid differentiation. This review provides an in-depth exploration of its mechanism of action, pharmacologic properties, and clinical efficacy across multiple hematologic disorders. We summarize trial outcomes in lower-risk myelodysplastic syndromes, transfusion-dependent β-thalassemia, and myelofibrosis, highlighting improvements in erythroid response and transfusion independence. The article also discusses adverse event profiles and future directions, including ongoing trials and potential expansion of indications. Luspatercept represents a promising targeted erythroid therapy with benefits across several hematologic diseases.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"15 2","pages":"51-70"},"PeriodicalIF":1.3,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13071942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and Pathogenicity Analysis of a Novel Fibrinogen Bβ Chain p.Gly293Val Variant Causing Hypofibrinogenemia.","authors":"Xiao Li Cheng, Lin Zhu, Yi Juan Xin, Liu Yang, Jia Yun Liu","doi":"10.14740/jh2183","DOIUrl":"https://doi.org/10.14740/jh2183","url":null,"abstract":"<p><strong>Background: </strong>Hypofibrinogenemia is a rare bleeding disorder characterized by excessive bleeding, impaired wound healing, and elevated perioperative risk. It most commonly results from pathogenic variants in the <i>FGB</i> gene. This study aimed to analyze the clinical phenotypes and genetic variants in a family with hypofibrinogenemia and explore its molecular pathogenic mechanisms.</p><p><strong>Methods: </strong>Fibrinogen (Fg) activity (Fg:C) was measured using the Clauss method and the prothrombin time (PT)-derived method, and Fg antigen (Fg:Ag) levels were determined by enzyme-linked immunosorbent assay (ELISA). Fg polymerization capacity was evaluated via a thrombin-induced Fg polymerization assay, and Fg levels and function were assessed using thromboelastography. Sanger sequencing was performed to screen for variants in all exons and flanking regions of the <i>FGA</i>, <i>FGB</i>, and <i>FGG</i> genes. Multiple <i>in silico</i> tools, including ClustalX-2.1-win, MutationTaster, PolyPhen-2, PROVEAN, I-Mutant 2.0 and Swiss-Pdb Viewer, were used to assess the conservation of the variation sites and their impact on protein structure and function. The pathogenicity of the variation sites was evaluated according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants.</p><p><strong>Results: </strong>The proband and affected members exhibited prolonged thrombin time (TT), reduced Fg:C and Fg:Ag levels, and a hypocoagulable thromboelastography profile. Notably, Fg polymerization kinetics remained preserved, consistent with hypofibrinogenemia rather than dysfibrinogenemia. Genetic analysis identified a heterozygous missense variant <i>FGB</i> c.878G>T (p.Gly293Val) segregating with the phenotype. This variant was absent from population databases, located at a highly conserved residue, and predicted to be deleterious by multiple <i>in silico</i> tools. Protein structural modeling indicated local conformational disturbance. The variant was classified as likely pathogenic following the 2015 ACMG/Association for Molecular Pathology (AMP) standard guidelines.</p><p><strong>Conclusions: </strong>The <i>FGB</i> p.Gly293Val variant may cause a significant decrease in Fg:C and Fg:Ag by disrupting the structure and function of the Fg protein.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"15 2","pages":"90-98"},"PeriodicalIF":1.3,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13071940/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Post-Transplant Cyclophosphamide Allows Allogeneic Hematopoietic Stem-Cell Transplantation Across Donor Types for Nonmalignant Hematologic Diseases.","authors":"Baldeep Wirk, Xiaoyan Deng","doi":"10.14740/jh2184","DOIUrl":"https://doi.org/10.14740/jh2184","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;The aim of the study was to compare post-transplant cyclophosphamide (PTCY)-based regimens with historical regimens using calcineurin inhibitor and methotrexate (CNI-MTX) for allogeneic hematopoietic stem-cell transplant (HCT) in nonmalignant hematologic disorders.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We conducted a single-center, retrospective review of patients with acquired severe aplastic anemia (N = 18) or Diamond-Blackfan anemia (N = 1) who underwent allogeneic HCT from 2011 to 2024. Patients received graft-versus-host disease (GVHD) prophylaxis with either CNI-MTX or PTCY-mycophenolate mofetil-tacrolimus. Primary endpoints were overall survival (OS) and disease-free survival (DFS) without graft failure at 1 year after transplantation.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;In the CNI-MTX cohort (N = 14) with severe aplastic anemia, 11 patients received fludarabine-cyclophosphamide-thymoglobulin (ATG)-total body irradiation (TBI), while three received cyclophosphamide-ATG allogeneic HCT. Donors were matched-unrelated (N = 7), matched-related (N = 6), or mismatched-unrelated (N = 1). Graft sources included bone marrow (N = 12) or peripheral blood stem cells (N = 2). One patient developed grade 3 skin acute GVHD, and none had chronic GVHD. There was primary graft failure (N = 6), stable mixed T-cell chimerism (N = 4), and 100% donor chimerism (N = 4). Four patients with primary graft failure underwent salvage second transplants at a median of 103 days (35-322) after the first transplant. Five patients with primary graft failure died at a median of 6 months (0.89-9.3) from the first transplant. The PTCY cohort (N = 5) included four patients with severe aplastic anemia and one with Diamond-Blackfan anemia. All underwent fludarabine-cyclophosphamide-ATG-TBI allogeneic HCT. Donors were matched-related (N = 1), matched-unrelated (N = 2), syngeneic (N = 1), or haploidentical (N = 1). Graft source was peripheral blood stem cells (N = 3) for matched-related, matched-unrelated, and syngeneic transplants, and bone marrow (N = 2) for haploidentical and matched-unrelated donor transplants. Donor chimerism was 100% (N = 3) and mixed chimerism (N = 2). All patients became transfusion-independent, and none developed GVHD or graft failure. The 1-year OS rate was 64.29% vs. 100%, the 1-year DFS rate was 57.14% vs. 100%, and the 1-year GVHD-free, graft failure-free survival (GRFS) was 50% vs.100% for the CNI-MTX and PTCY cohorts, respectively. Despite a trend toward better OS, DFS, and GRFS for PTCY, the OS, DFS, and GRFS time distributions were not statistically significantly different (P = 0.1448, 0.0919, and 0.0627, respectively).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Allogeneic HCT with uniform conditioning of fludarabine-cyclophosphamide-ATG-TBI with PTCY GVHD prophylaxis is effective for adults with severe aplastic anemia or Diamond-Blackfan anemia across donor types (matched-related, syngeneic, matched-unrelated, haploidentical) and sho","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"15 2","pages":"71-79"},"PeriodicalIF":1.3,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13071939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Engraftment Outcome of CRISPR/Cas9-Edited Hematopoietic Stem Cells for Genetic Diseases: A Systematic Review and Meta-Analysis of Preclinical Evidence.","authors":"Sudhanshu Yadav, Bandana Chakravarti, Baby Anjum, Shubhanshu Yadav, Prashant Kumar Singh, Ashok Kumar","doi":"10.14740/jh2190","DOIUrl":"https://doi.org/10.14740/jh2190","url":null,"abstract":"<p><strong>Background: </strong>CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9)-based gene editing represents a promising frontier for treating monogenic hematologic disorders. Several preclinical studies have demonstrated the transplantation efficiency of CRISPR-Cas9-mediated gene editing in hematopoietic stem and progenitor cells (HSPCs) using various animal models. Nonetheless, these studies have employed diverse gene-editing strategies, utilizing HSPCs from different origins and transplanting them into distinct mouse strains. The present study aimed to determine the optimum conditions for efficient engraftment of genetically modified HSPCs across various organs, thereby facilitating the translation of preclinical research into clinical applications.</p><p><strong>Methods: </strong>We conducted a comprehensive literature search using PubMed Medline, Web of Science, and Google Scholar for relevant articles published from 2014 to 2025 that evaluated the engraftment potential of CRISPR-Cas9 HSPCs in genetic disease models. A total of 39 studies met the inclusion criteria and were included in a meta-analysis using Jamovi software.</p><p><strong>Results: </strong>The study revealed a significantly reduced engraftment of gene-edited cells in the bone marrow, spleen, and peripheral blood in the pooled analysis. Subgroup analyses revealed that knockout cells exhibited diminished engraftment, whereas knock-in cells demonstrated engraftment levels comparable to those of their non-edited counterparts. No evidence of publication bias or substantial heterogeneity in the study design or outcomes was detected.</p><p><strong>Conclusions: </strong>Identifying the optimal parameters for gene editing to enhance engraftment efficiency may provide crucial insights for designing future clinical trials and advancing the therapeutic application of CRISPR-Cas9 edited HSPCs.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"15 2","pages":"108-128"},"PeriodicalIF":1.3,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13071946/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adriamycin, Vinblastine and Dacarbazine With Immunotherapy Achieves Complete Metabolic Response in a Patient With Classical Hodgkin Lymphoma and Dyskeratosis Congenita.","authors":"Calum Slapnicar, Prateek Lala, Stephanie Lee, Sasan Zandi, Martina Trinkaus","doi":"10.14740/jh2160","DOIUrl":"https://doi.org/10.14740/jh2160","url":null,"abstract":"<p><p>Dyskeratosis congenita (DC) is a rare inherited telomeropathy characterized by defective telomere maintenance and an elevated risk of hematologic malignancies. Classical Hodgkin lymphoma (cHL) is a rare malignancy described in patients with DC, and optimal treatment remains undefined due to overlapping toxicities of standard ABVD (adriamycin, bleomycin, vinblastine, dacarbazine) and radiation therapy in this high-risk population. We present a 48-year-old man with longstanding thrombocytopenia who was diagnosed with DC based on clinical features and genetic testing. Two years post diagnosis, he developed stage IIA bulky cHL (nodular sclerosing, CD30+, Epstein-Barr virus (EBV)+). To mitigate pulmonary and myelotoxicity risks, he received a modified regimen of brentuximab vedotin (BV) combined with adriamycin, vinblastine, and dacarbazine (BV-AVD), with full omission of bleomycin. Treatment complications included peripheral neuropathy resulting in BV dose reduction and vinblastine discontinuation. Worsening thrombocytopenia led to discontinuation of dacarbazine. Interim imaging showed tumor regression, with post-treatment positron emission tomography with computed tomography (PET-CT) confirming complete metabolic response. Involved-site radiotherapy was omitted to minimize long-term risks of skin malignancy, local skin reactions and poor skin healing, in the context of DC. Post-treatment bone marrow evaluation showed no evidence of myeloid malignancy or lymphoma. This case demonstrates that modified BV-AVD can achieve complete metabolic remission in DC patients with cHL, while managing significant treatment-related toxicities. It underscores the critical need for individualized therapy in patients with DC and supports careful consideration of radiation omission to reduce secondary malignancy risk. These findings provide a potential therapeutic framework for managing Hodgkin lymphoma in patients with DC.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"15 2","pages":"129-134"},"PeriodicalIF":1.3,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13072619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interactive Effect of Age on Overall and Relative Survival Benefits of Radiotherapy for Early-Stage Diffuse Large B-Cell Lymphoma in the Rituximab Era.","authors":"Xin Wang, Xin Liu, Qiu Zi Zhong, Yun Peng Wu, Tao Wu, Yong Wen Song, Bo Chen, Hao Jing, Yuan Tang, Jing Jin, Yue Ping Liu, Hui Fang, Ning Ning Lu, Ning Li, Yi Rui Zhai, Wen Wen Zhang, Yong Yang, Shu Lian Wang, Shu Nan Qi, Ye Xiong Li","doi":"10.14740/jh2134","DOIUrl":"https://doi.org/10.14740/jh2134","url":null,"abstract":"<p><strong>Background: </strong>The aim of the study was to determine the interactive effect of age on overall survival (OS) and relative survival (RS) benefits of radiotherapy (RT) in early-stage diffuse large B-cell lymphoma (DLBCL).</p><p><strong>Methods: </strong>Data for 10,841 adults with early-stage DLBCL from the Surveillance, Epidemiology, and End Results database between 2002 and 2015 were retrospectively analyzed. Primary therapy was classified as combined-modality treatment (CMT; n = 3,631) and chemotherapy alone (n = 7,210). Inverse probability of treatment weighting was used to balance covariate distribution between the treatment groups. Survival was estimated and compared using the Kaplan-Meier method and log-rank test, respectively. Age-RT interactive effect on survival was examined through Cox regression multiplicative interaction analysis.</p><p><strong>Results: </strong>Using age of 60 years as the reference, older age was an independent predictor of shorter OS in the multivariable Cox model (hazard ratio (HR), 1.07; 95% confidence interval (CI), 1.06-1.07; P < 0.001). After controlling for background mortality, older age was not an independent predictor of RS (HR, 1.00; 95% CI, 0.99-1.00; P = 0.842). Across all age groups, patients treated with CMT had better OS and RS than those who received chemotherapy alone. A significant interaction between age and RT was identified for both OS (P_interaction = 0.020) and RS (P_interaction = 0.038), indicating greater RT benefit in young patients. A linear correlation existed between RS and OS at the treatment arm level.</p><p><strong>Conclusions: </strong>RT was associated with improved net survival across all ages, particularly for young adults. RS was a valid alternative endpoint for prognostication and benefit evaluation.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"15 1","pages":"34-44"},"PeriodicalIF":1.3,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12948474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147326313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mean Corpuscular Volume in <i>HFE</i> p.C282Y/p.H63D Compound Heterozygotes With High Iron Phenotypes: Clinical and Laboratory Associations.","authors":"James C Barton, J Clayborn Barton, Ronald T Acton","doi":"10.14740/jh2155","DOIUrl":"https://doi.org/10.14740/jh2155","url":null,"abstract":"<p><strong>Background: </strong>The aim of this study was to define the relationships between mean corpuscular volume (MCV) and 12 clinical and laboratory variables in <i>HFE</i> p.C282Y (rs1800562)/p.H63D (rs1799945) compound heterozygotes.</p><p><strong>Methods: </strong>We retrospectively studied self-reported non-Hispanic white adult compound heterozygotes with transferrin saturation (TS) > 50% and serum ferritin (SF) > 300 µg/L (men) or TS > 45% and SF > 200 µg/L (women) who participated in primary care-based screening. In post-screening evaluations, we excluded participants with anemia, pregnancy, or medication use that increases MCV. We defined heavy alcohol intake as > 28 g/day in men and > 14 g/day in women. We determined associations of MCV with the following clinical and laboratory variables: age, sex, body mass index (BMI), diabetes, daily intakes of heme, non-heme, and supplemental iron, daily intakes of alcohol, swollen or tender second/third metacarpophalangeal (MCP) joints, reports of therapeutic phlebotomy, TS, and SF.</p><p><strong>Results: </strong>There were 74 participants (37 men, 37 women) of mean age 59 ± 12 (SD) years. Mean screening TS and SF were 65±13% and 529 ± 169 µg/L (men) and 59 ± 14% and 376 ± 195 µg/L (women). Post-screening values did not differ significantly. Mean MCV was 95.7 ± 4.0 fL. There was a negative correlation of MCV with BMI (P = 0.0488) and positive correlations of MCV with age (P = 0.0098), daily heme iron intake (P = 0.0333), and daily alcohol intake (P = 0.0113). Mean MCVs of 19 participants with and 55 without heavy alcohol intake were 97.8 ± 3.8 fL and 95.0 ± 3.9 fL, respectively; P = 0.0074). Linear regression on MCV confirmed positive associations with age (P = 0.0064) and daily alcohol intake (P = 0.0151). MCV was not significantly associated with sex, diabetes, daily intakes of non-heme and supplemental iron, swollen or tender second/third MCP joints, reports of therapeutic phlebotomy, TS, or SF.</p><p><strong>Conclusion: </strong>MCV in <i>HFE</i> p.C282Y/p.H63D compound heterozygotes with high iron phenotypes is positively associated with age and daily alcohol intake, after adjustment for other variables.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"15 1","pages":"13-22"},"PeriodicalIF":1.3,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12948473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147326349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cryopreservation and Thawing of <i>Ex Vivo</i> Expanded Cord Blood Hematopoietic Stem Cells.","authors":"Lia Morton, Induja Arulchelvam, Chelsea McGregor, Layla Ghannouchi, Nicolas Pineault","doi":"10.14740/jh2167","DOIUrl":"https://doi.org/10.14740/jh2167","url":null,"abstract":"<p><strong>Background: </strong>Umbilical cord blood (CB) is an invaluable source of hematopoietic stem and progenitor cells (HSPCs). Its use in stem cell transplantation is however constrained by the insufficient cell dose present in each unit. Recent development in <i>ex vivo</i> HSPC expansion technologies addresses this issue and encourages the use of the best matched CB unit. In this study, we sought to develop a cryopreservation and thawing protocol for <i>ex vivo</i> expanded HSPC.</p><p><strong>Methods: </strong>CB CD34⁺ HSPC-enriched cells were expanded in serum-free medium supplemented with a previously optimized mix of chromatin-modifiers and early acting cytokines for 7-days. CB HSPC were then harvested and prepared for cryopreservation. Thawed CB samples were then analyzed by flow cytometry to measure cell viability and recovery of HSPC-enriched fractions, while graft potency was measured using the colony-forming unit (CFU) assay.</p><p><strong>Results: </strong>First, we compared two widely used means of freezing; a passive isopropyl alcohol-based freezing container vs. a controlled-rate freezer (CRF). Both methods exhibited comparable recovery of viable cell numbers, including the HSC-enriched CD34⁺CD45RA^-CD90⁺ fraction, and similar potency measured using the CFU assay. Next, we compared two thawing methods frequently used in clinical settings. The \"thaw and dilute\" method slightly improved the recovery of total nucleated cells (TNC) and HSPC fractions over the \"rinse\" method, though potency was comparable between both thaw methods. Next, we investigated the impact of three different commercial freezing solutions on product recovery. Dimethyl sulfoxide (DMSO)/dextran-40 and CryoProtectPure-STEM (CPP) provided superior recovery of HSPC-fractions and potency when compared to CryoScarless (CSL).</p><p><strong>Conclusions: </strong>Taken together, this study provides insights into alternative, less harmful options for the freezing and thawing of <i>ex vivo</i> expanded HSPCs.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"15 1","pages":"23-33"},"PeriodicalIF":1.3,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12948475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147326292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}