Hematology, Transfusion and Cell Therapy最新文献

{"title":"Hybrid histone deacetylase-kinase inhibitor potentiates venetoclax-induced cell death in chronic lymphocytic leukemia","authors":"Anali Del Milagro Bernabe Garnique , Jorge Antonio Elias Godoy Carlos , Natalia Sudan Parducci , Mauricio Temotheo Tavares , Karoline de Barros Waitman , Keli Lima , Leticia Veras Costa-Lotufo , Roberto Parise-Filho , João Agostinho Machado-Neto","doi":"10.1016/j.htct.2025.103757","DOIUrl":"10.1016/j.htct.2025.103757","url":null,"abstract":"","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 2","pages":"Article 103757"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143747287","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":"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}

{"title":"Dysmegakaryopoiesis in myelodysplastic syndrome: Beyond cell dysplasia","authors":"Maria Mirele da Silva Ribeiro ,&nbsp;Francisco Dário Rocha Filho ,&nbsp;Howard Lopes Ribeiro Junior ,&nbsp;Priscila da Silva Mendonça ,&nbsp;Ronald Feitosa Pinheiro ,&nbsp;Silvia Maria Meira Magalhães","doi":"10.1016/j.htct.2024.09.2485","DOIUrl":"10.1016/j.htct.2024.09.2485","url":null,"abstract":"","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 1","pages":"Article 103725"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143420844","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":"Chronic lymphocytic leukemia diagnosis: how many more algorithms and scoring systems do we need?","authors":"Daniel Mazza Matos","doi":"10.1016/j.htct.2024.05.007","DOIUrl":"10.1016/j.htct.2024.05.007","url":null,"abstract":"","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 1","pages":"Article 103668"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142094237","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":"Unraveling thalassemia intermedia: Novel insights of a hemoglobin Jax [HBA2:c.44G>C] and deletional α0-thalassemia interaction phenotype","authors":"Sitthichai Panyasai ,&nbsp;Kanokwan Jaiping ,&nbsp;Pisuttinee Khantarag ,&nbsp;Patcharee Nochod ,&nbsp;Surada Satthakarn","doi":"10.1016/j.htct.2025.103739","DOIUrl":"10.1016/j.htct.2025.103739","url":null,"abstract":"<div><h3>Objective</h3><div>To elucidate the molecular basis, hematological features, and electrophoretic and chromatographic mobility behavior of an unstable α₂-globin chain variant, and to describe the diagnostic approach.</div></div><div><h3>Methods</h3><div>A Thai patient with unexplained chronic anemia and her daughter were investigated. Hematological data were analyzed using a standard automated cell counter. Hemoglobin was analyzed using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Mutational analysis was performed using appropriate polymerase chain reaction (PCR) techniques and direct sequencing. Additionally, α-globin haplotype analysis was conducted. Simple and rapid diagnostic methods were developed.</div></div><div><h3>Results</h3><div>Hemoglobin analysis in the patient revealed anomalous peaks separated from normal hemoglobin visible using the HPLC technique. These peaks were virtually absent in the daughter. DNA analysis identified a G to C mutation at codon 14 of the α₂-globin gene responsible for hemoglobin Jax in <em>trans</em> to the α⁰-thalassemia gene in the patient. Heterozygosity of this mutation was identified in her daughter. Hematological analysis showed mild thalassemia-like changes in simple heterozygotes and exhibited a hemoglobin H-like phenotype when combined with α⁰-thalassemia. Isopropanol stability testing and bioinformatic software indicated that the variant was unstable and potentially damaging. This mutation was confirmed using allele-specific PCR. Hemoglobin Jax was strongly associated with the haplotype [+ - <em>S</em> + - + -].</div></div><div><h3>Conclusions</h3><div>Hemoglobin Jax, a pathological α-globin variant, is asymptomatic in simple heterozygotes and demonstrates more pronounced clinical effects when associated with deletional α-thalassemia. This knowledge can help develop strategies to prevent hemoglobinopathies in regions of high prevalence. Accurate identification requires DNA level analysis.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 1","pages":"Article 103739"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143420840","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":"Effect of blood groups on acquired and congenital thrombotic thrombocytopenic purpura and clinical correlation: Multi-center Turkish cohort study","authors":"Cevat İlteriş Kıkılı,&nbsp;Damla Ortaboz,&nbsp;Melek Yanaşık,&nbsp;Muhlis Cem Ar,&nbsp;Sevgi Kalayoğlu Beşışık","doi":"10.1016/j.htct.2024.09.2483","DOIUrl":"10.1016/j.htct.2024.09.2483","url":null,"abstract":"<div><h3>Background</h3><div>Thrombotic thrombocytopenic purpura (TTP) is a microangiopathic hemolytic anemia associated with ADAMTS-13 deficiency, a cleaving protease of von Willebrand factor (vWF). According to the literature, blood group O tends to be less common among these patients than in the general population. This study aimed to investigate whether the decreasing trend of blood group O in thrombotic thrombocytopenic purpura patients is observed in a Turkish cohort and to analyze the relationship between clinical outcomes and blood groups.</div></div><div><h3>Patients and Methods</h3><div>A total of 65 patients with acquired and five patients with congenital thrombotic thrombocytopenic purpura from two university hospitals were enrolled in this study. As a control group, the blood group data of 136,231 individuals who were not diagnosed without anemia were obtained from the archives of the Istanbul Medical Faculty Blood Centre. The blood groups were compared between cases and the Control Group using the chi-square test. Subsequently, the clinical outcomes of patients and categorized blood groups were compared by the chi-square test, Mann Whitney U test and Cox regression with Kaplan Meier analysis.</div></div><div><h3>Results</h3><div>This study shows that the decreasing trend of blood group O was not observed in this Turkish cohort. Regarding the relationship between blood groups and clinical outcomes, the AB blood group is associated with a good prognosis and blood group O is associated with a poor prognosis. In addition, relapses were more common with blood group A patients but less common in blood group B.</div></div><div><h3>Conclusion</h3><div>The current study shows the association between thrombotic thrombocytopenic purpura and blood groups in the Turkish cohort. This study also contributes by analyzing the relationship between blood groups and clinical outcomes.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 1","pages":"Article 103723"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143437928","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":"STAT5B::RARα-positive acute promyelocytic leukemia: Role of next generation sequencing in detection of a rare malignancy","authors":"Indranil Dey ,&nbsp;Sushant Vinarkar ,&nbsp;Mayur Parihar ,&nbsp;Deepak Kumar Mishra","doi":"10.1016/j.htct.2024.07.009","DOIUrl":"10.1016/j.htct.2024.07.009","url":null,"abstract":"","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 1","pages":"Article 103726"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143349524","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":"Is galactomannan a useful tool for triage and diagnosis of oral invasive aspergillosis?","authors":"Maria Júlia Pagliarone ,&nbsp;Lara Maria Alencar Ramos Innocentini ,&nbsp;Fernanda Bortolotto ,&nbsp;Vanessa Tonetto Marques Galves ,&nbsp;Hilton Marcos Alves Ricz ,&nbsp;Tatiane Cristina Ferrari ,&nbsp;Renato Luiz Guerino Cunha ,&nbsp;Belinda Pinto Simões ,&nbsp;Leandro Dorigan de Macedo","doi":"10.1016/j.htct.2024.06.005","DOIUrl":"10.1016/j.htct.2024.06.005","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the accuracy of the galactomannan serum test in diagnosing oral invasive aspergillosis.</div></div><div><h3>Methods</h3><div>This prospective observational study included oncohematological neutropenic patients with suspected invasive aspergillosis, but without signs of pulmonary involvement. These patients underwent nasofibroscopy, biopsy, galactomannan serum testing, and maxillofacial high-resolution computed tomography to diagnose invasive aspergillosis. Patients were divided into two groups: Group 1 consisted of those with proven invasive aspergillosis, while Group 2 included patients without proven invasive aspergillosis. Sensitivity, specificity, positive predictive value, and negative predictive value were calculated.</div></div><div><h3>Results</h3><div>Thirteen patients were included in Group 1 and four in Group 2. The sensitivity, specificity, positive predictive and negative predictive values were 0.69, 1.0, 1.0 and 0.5, respectively. Sensitivity was higher in cases with <em>Aspergillus</em> sinusitis than in cases with exclusive oral lesions (0.77 versus 0.5, respectively). The galactomannan serum test optical density index was higher in Group 1 (2.4; range 0.2–3.5) than in Group 2 (0.2; range: 0.1–0.3; <em>P</em>-value = 0.007.</div></div><div><h3>Conclusions</h3><div>The galactomannan serum test is a valuable tool for screening invasive aspergillosis, especially in cases with nasal or sinus involvement, but biopsy is still the gold standard for diagnosis.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 1","pages":"Article 103687"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335172","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}