Hematology, Transfusion and Cell Therapy最新文献

{"title":"Evidence-based medicine during the COVID-19 pandemic: A hematologist's perspective","authors":"Yung Gonzaga","doi":"10.1016/j.htct.2025.103825","DOIUrl":"10.1016/j.htct.2025.103825","url":null,"abstract":"","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103825"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143776870","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":"Impact of the creation of a multidisciplinary amyloidosis study group in a public hospital of a developing Latin American country","authors":"Camila Peña , José Manuel Matamala , Cristián Vargas , Jaime Álvarez , Ricardo Valjalo , Fernando J. Verdugo","doi":"10.1016/j.htct.2025.103820","DOIUrl":"10.1016/j.htct.2025.103820","url":null,"abstract":"","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103820"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143823219","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":"Optimization of hydroxyurea in sickle cell disease in Brazil","authors":"Clarisse Lobo ,&nbsp;Ana Cristina Silva-Pinto ,&nbsp;Rodolfo Delfini Cançado","doi":"10.1016/j.htct.2025.103826","DOIUrl":"10.1016/j.htct.2025.103826","url":null,"abstract":"<div><div>Despite sickle cell disease (SCD) being a well-recognized and highly prevalent condition identified early through neonatal screening programs, it represents a substantial public health challenge due to high morbidity and premature mortality rates. Hydroxyurea (HU) is the only available disease-modifying therapy for SCD approved in Brazil. Indeed, its underutilization highlights the need for improved therapeutic strategies to enhance adherence and management of SCD. Innovative formulations of HU might favor treatment adherence and precise dosing. Thus, we aimed to describe HU's pharmacological characteristics, clinical efficacy, and tolerability, including dose escalation. Recent interventional and observational studies revealed the efficacy and safety of an innovative formulation: dispersible scored tablets of 100 mg and 1000 mg, allowing easier dose adjustments and, consequently, more precise dosing. The 100 mg tablets scored can be cut into two parts of 50 mg, and the 1000 mg tablets can be cut into four parts of 250 mg. The fractionating dose is possible due to the formulation technology that allows the tablet to be cut with a uniform amount of drug in each part. This new formulation of HU, suitable for children, may influence the prognosis of SDC, regardless of associated symptoms.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103826"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143895028","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":"Outcomes and vaccination patterns against COVID-19 in a cohort of sickle cell disease patients in the state of Rio de Janeiro","authors":"Claudia de Alvarenga Maximo ,&nbsp;Jorge Francisco da Cunha Pinto ,&nbsp;Fabiana Canedo Pinto ,&nbsp;Patrícia Brasil","doi":"10.1016/j.htct.2025.103824","DOIUrl":"10.1016/j.htct.2025.103824","url":null,"abstract":"<div><h3>Background</h3><div>Patients with sickle cell disease were presumed to be at high risk for severe COVID-19 outcomes due to their compromised immunity and chronic comorbidities. This study aimed to evaluate vaccination patterns, healthcare utilization, and clinical outcomes in a cohort of sickle cell disease patients during the COVID-19 pandemic in Rio de Janeiro.</div></div><div><h3>Methods</h3><div>A total of 289 over 18-year-old patients from the Epidemiology and Donor Evaluation Study (REDS-III) Brazil sickle cell disease cohort were followed between January 2021 and August 2023. Sociodemographic data, emergency department visits, hospitalizations, mortality rates, and COVID-19 vaccination status were collected. SARS-CoV-2 infection was confirmed by reverse transcription polymerase chain reaction testing for symptomatic or hospitalized patients.</div></div><div><h3>Results</h3><div>Of the participants, 89.2% completed the primary vaccination schedule, 62.2% received the first booster, 30% the second booster, and 4.1% completed all five doses. Emergency visits increased slightly during the pandemic but were primarily due to vaso-occlusive crises. Of the 119 patients tested for SARS-CoV-2, six were positive, presenting mild symptoms with no COVID-19-related deaths. Vaccination rates in the cohort were similar to those in the general population, with Oxford/AstraZeneca and Pfizer being the most used vaccines.</div></div><div><h3>Discussion</h3><div>The findings suggest that COVID-19 infection was not a significant trigger for vaso-occlusive crises or severe disease outcomes. High vaccination adherence likely played a key role in preventing severe COVID-19, alongside other factors such as social isolation and herd immunity. However, the overlap between symptoms of vaso-occlusive crises and COVID-19 may have caused diagnostic challenges. Importantly, the low morbidity and mortality observed emphasize the protective effect of vaccines, despite the presence of thromboplastic activity and pro-inflammatory states inherent to sickle cell disease. Addressing vaccine hesitancy remains crucial, particularly as booster doses show declining adherence.</div></div><div><h3>Conclusion</h3><div>COVID-19 had a limited clinical impact on this cohort, with no significant role in triggering vaso-occlusive crises or severe outcomes. High vaccination rates and potential environmental or biological factors may have contributed to this protective effect.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103824"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143807678","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":"Ocular graft-versus-host disease after allogeneic hematopoietic stem cell transplantation in a pediatric population","authors":"Cinthia Kim ,&nbsp;Patricia Cabral Zacharias Serapicos ,&nbsp;Cintia Monteiro Lustosa ,&nbsp;Adriane da Silva Santos Ibanez ,&nbsp;Victor Gottardello Zecchin ,&nbsp;Lauro Augusto de Oliveira","doi":"10.1016/j.htct.2025.103823","DOIUrl":"10.1016/j.htct.2025.103823","url":null,"abstract":"<div><h3>Aim</h3><div>To determine the prevalence of ocular graft-versus-host disease after allogeneic hematopoietic stem cell transplantation and to characterize the risk factors associated with its development in a pediatric population.</div></div><div><h3>Methods</h3><div>This retrospective chart review included 105 patients during a five-year period (2013–2017) from the Pediatric Oncology Institute (GRAACC-UNIFESP). The diagnosis of graft-versus-host disease was performed by the treating hematologist in conjunction with an ophthalmologist in accordance to National Institutes of Health (NIH) consensus criteria.</div></div><div><h3>Results</h3><div>Systemic graft-versus-host disease occurred in 44 of 105 (41.9%) patients, predominantly in males (54.5%) whereas ocular disease was diagnosed in seven (6.7%) of the patients. All the analyzed risk factors including diagnosis, type of conditioning regimen, use of radiotherapy in conditioning, donor sex, type and source of graft, human leukocyte antigen mismatch, and sex mismatch were not statistically significantly associated with the development of ocular disease, except for age. Ocular graft-versus-host disease patients presented a higher mean age compared to patients without ocular disease (p-value = 0.015).</div></div><div><h3>Conclusion</h3><div>Although less prevalent than in adults, ocular morbidity remains a concern in pediatric patients following allogeneic transplantation. Early diagnosis and regular ophthalmic follow-ups are recommended after the transplantation regardless of systemic graft-versus-host disease status.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103823"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143854277","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":"Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population","authors":"Paula de Melo Campos,&nbsp;Ana Carolina Toreli,&nbsp;Dulcinéia Martins de Albuquerque,&nbsp;Fernando Ferreira Costa","doi":"10.1016/j.htct.2025.103846","DOIUrl":"10.1016/j.htct.2025.103846","url":null,"abstract":"<div><div>There is no physiological mechanism for the excretion of iron in humans, and excess iron may lead to severe tissue damage if not adequately treated. Iron overload can be caused by genetic factors (hemochromatosis) or acquired conditions (e.g., ineffective erythropoiesis, transfusions, iatrogenic iron treatment, viral hepatitis, alcohol intake, severe liver disease, metabolic dysfunction), and, in many cases, by a conjunction of these factors. Historically, guidelines for the genetic investigation of patients with iron overload have been based on data obtained from Caucasian individuals in Europe and North America. However, due to the genetic heterogeneity of iron overload gene mutations worldwide, these recommendations might not be applicable to other ethnic groups. This study analyzed previously published genetic data obtained from Brazilian patients with iron overload and found a relevant but small prevalence of <em>HFE</em> C282Y/C282Y patients when compared to European populations, while mutations of the <em>TFR2, SCL40A1, HJV, HAMP, BMP6</em> and <em>SLC11A1</em> genes seem to be important. This study proposes an adapted algorithm for the investigation and management of iron overload in Brazil.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103846"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143948591","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":"A common ground: an in silico assessment of the sources of intrinsic ex vivo resistance to venetoclax in acute myeloid leukemia","authors":"Brunno Gilberto Santos de Macedo ,&nbsp;Manuela Albuquerque de Melo ,&nbsp;Diego Antonio Pereira-Martins ,&nbsp;João Agostinho Machado-Neto ,&nbsp;Fabiola Traina","doi":"10.1016/j.htct.2025.103758","DOIUrl":"10.1016/j.htct.2025.103758","url":null,"abstract":"<div><div>Venetoclax is a promising alternative for patients with acute myeloid leukemia who are considered unfit for conventional chemotherapy; however, its employment still faces challenges mostly related to drug resistance. Here, we provide further biological mechanisms underlying the previously described and potentially novel intrinsic sources of poor response to venetoclax departing from <em>ex vivo</em> response data. Acute myeloid leukemia data including <em>FLT3</em> mutation status, gene expression data, and <em>ex vivo</em> response data were extracted from the publicly available BeatAML 1.0 study database and aided sample categorization that supported differential gene expression analysis that, in turn, supported gene set enrichment analysis. CIBERSORTx-based bulk RNA sequencing deconvolution of BeatAML 1.0 data allowed us to categorize samples according to their cell type content. We observed that inflammation-related gene sets, such as cytokines and inflammatory response, NLRP3 inflammasome activation, and activation of adaptive immune response, were concordantly positively enriched across all the conditions reported to be associated with poor <em>ex vivo</em> venetoclax response, whereas samples from good <em>ex vivo</em> responders’ mostly enriched gene sets related to mitochondrial activity, and early myeloid progenitor cell molecular programs. Besides the alternative reliance on <em>BCL2A1</em>, we highlight inflammation as a common element present across multiple sources of venetoclax <em>ex vivo</em> response modulation in acute myeloid leukemia samples. Hence, a potential key modulator for venetoclax response.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103758"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143821112","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":"Annualized bleeding rate in hemophilia A patients in Brazil: a systematic review","authors":"Alessandra NL Prezotti ,&nbsp;Débora MC Rocha ,&nbsp;Endi L. Galvão ,&nbsp;Thaís Gimenez ,&nbsp;Leo Sekine ,&nbsp;Rodrigo A. Ribeiro ,&nbsp;Elisa Sobreira","doi":"10.1016/j.htct.2025.103736","DOIUrl":"10.1016/j.htct.2025.103736","url":null,"abstract":"<div><h3>Background</h3><div>Hemophilia A is an X-linked chronic bleeding disorder due to deficiency of the coagulation factor VIII. According to the residual level of FVIII activity, patients can present with severe (FVIII levels &lt;1 %), moderate (1–5 %) or mild (6–40 %) phenotypes. While long-term prophylaxis is the current standard of care and has been shown to be effective in minimizing bleeding episodes, episodes of hemarthrosis, that could lead to arthropathy and disability, are still reported. This systematic review aimed to evaluate available data concerning current treatment outcomes in severe hemophilia A patients without inhibitors in Brazil, focusing on the frequency of bleeding episodes and adherence to therapy of patients under prophylactic treatment.</div></div><div><h3>Method</h3><div>A literature search strategy was used in the MEDLINE (via PubMed), Embase, LILACS and SciElo databases from 2014 onwards, since it was the moment that prophylaxis effectively became available in the Brazilian National Health Service, even though prophylactic treatment had been officially incorporated in 2011 focused on concerning bleeding episodes and adherence rate of this population.</div></div><div><h3>Results</h3><div>Searches yielded 536 articles. After removal of duplicates, 417 articles were screened for eligibility. Eventually, 104 articles were selected for full-text assessment. Finally, only five publications met eligibility criteria and were selected for the descriptive review.</div></div><div><h3>Conclusion</h3><div>Available information on efficacy of severe hemophilia A management in Brazil currently relies on scarce and possibly biased information. It should be strongly emphasized that Brazil is in great need of a structured and coordinated effort to improve collection, analysis, and reporting of data on hemophilia A patients.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103736"},"PeriodicalIF":1.8,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143725183","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":"Lack of association between the TMPRSS6 gene polymorphism (rs855791) and anemia: a comprehensive meta-analysis","authors":"Jethendra Kumar Muruganantham,&nbsp;Ramakrishnan Veerabathiran","doi":"10.1016/j.htct.2025.103737","DOIUrl":"10.1016/j.htct.2025.103737","url":null,"abstract":"<div><h3>Background</h3><div>Anemia affects around 1.6 billion people worldwide and presents a significant challenge for healthcare providers. Despite the hemoglobin concentration being commonly used for diagnosis, identifying underlying causes remains challenging, particularly in vulnerable groups like children under five and pregnant women. Genetic factors, notably variations in the <em>TMPRSS6</em> gene, are implicated in iron deficiency anemia, yet the precise relationship with anemia remains unclear.</div></div><div><h3>Methods</h3><div>A thorough literature search was conducted across databases, including Embase, Google Scholar, and PubMed, focusing on studies investigating <em>TMPRSS6</em> gene polymorphisms and anemia. Thirteen eligible studies, comprising 2082 cases and 2684 controls, underwent meta-analysis using Review Manager 5.4 software. Various genetic models were assessed, including allelic, homozygous, heterozygous, dominant, and recessive, with no significant relationship found between the <em>TMPRSS6</em> rs855791 polymorphism and anemia.</div></div><div><h3>Conclusion</h3><div>This meta-analysis provides robust evidence suggesting no significant association between the <em>TMPRSS6</em> rs855791gene polymorphism and anemia. These findings underscore the complexity of genetic factors contributing to anemia and emphasize the importance of the further investigation to unravel the mechanisms underlying this relationship for improved diagnostic and therapeutic approaches.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103737"},"PeriodicalIF":1.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143609369","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":"Spinal cord leptomeningeal myelomatosis","authors":"Gustavo Kazuo Silva Yamada ,&nbsp;Guilherme Duffles ,&nbsp;Carmino Antonio de Souza ,&nbsp;Fabiano Reis","doi":"10.1016/j.htct.2025.103745","DOIUrl":"10.1016/j.htct.2025.103745","url":null,"abstract":"","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103745"},"PeriodicalIF":1.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548453","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}