American Journal of Hematology最新文献

{"title":"Addressing Anemia in High-Altitude Populations: Global Impact, Prevalence, Challenges, and Potential Solutions.","authors":"Ayoub Boulares,Nicola Luigi Bragazzi,Gustavo F Gonzales,Paul Robach,Benoit Champigneulle,Julien V Brugniaux,Emeric Stauffer,Elie Nader,Stéphane Doutreleau,Philippe Connes,Samuel Verges,Aurélien Pichon","doi":"10.1002/ajh.27761","DOIUrl":"https://doi.org/10.1002/ajh.27761","url":null,"abstract":"Anemia, a global health challenge affecting a quarter of the global population, results from diverse causes such as nutritional deficiencies, chronic diseases, and genetic factors. It disproportionately impacts women of reproductive age and children, leading to significant morbidity and mortality. While high-altitude populations face unique diagnostic challenges due to natural hemoglobin increases, the current World Health Organization cutoffs often overestimate anemia in these regions. Altitude corrections significantly alter prevalence rates, particularly in South American children, leading to misdiagnosis. Proposed solutions include population-specific thresholds and iron status markers like serum hepcidin, though economic constraints and limited test availability remain challenges. Tailored strategies informed by genetic research highlight adaptations in Tibetan and Ethiopian highlanders, demonstrating the need for region-specific approaches. Socioeconomic factors exacerbate anemia in high-altitude areas. Addressing anemia requires updated diagnostic criteria, personalized strategies, and increased awareness to ensure accurate assessments and interventions in diverse populations, especially those residing at high altitudes.","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":"11 1","pages":""},"PeriodicalIF":12.8,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144533506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MRD Assessment in Patients With Acute Myeloid Leukemia Aged ≥ 60 Years Treated With a 10‐Day Decitabine Schedule Versus Intensive Chemotherapy in the AML21 Study","authors":"Venditti Adriano, Kicinski Michal, Audisio Ernesta, Luppi Mario, Lunghi Monia, Foà Robin, Candoni Anna, Mengarelli Andrea, Olivieri Attilio, Imovilli Annalisa, Musso Maurizio, De Fabritiis Paolo, Lanza Francesco, Carella Angelo Michele, Tafuri Agostino, Del Principe Maria Ilaria, Mancino Alessandra, Suciu Stefan, Giraut Anne, Antunes Stephanié, Wijermans Pierre, Lübbert Michael, Huls Gerwin, Fazi Paola, Vignetti Marco, Buccisano Francesco","doi":"10.1002/ajh.27763","DOIUrl":"https://doi.org/10.1002/ajh.27763","url":null,"abstract":"","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":"652 1","pages":""},"PeriodicalIF":12.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144532985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Luspatercept for Transfusion-Dependent Beta-Thalassemia: Real-World Experience in a Large Cohort of Patients From Italy","authors":"Raffaella Origa, Barbara Gianesin, Antonietta Zappu, Anna Rita Denotti, Mary Ann Di Giorgio, Roberta Sciortino, Irene Motta, Daniele Lello Panzieri, Rosamaria Rosso, Anna Bulla, Martina Culcasi, Anna Maria Pasanisi, Lucia De Franceschi, Rosario Di Maggio, Valeria Maria Pinto, Paola Maria Grazia Sanna, Paolo Ricchi, Giovan Battista Ruffo, Francesca Schieppati, Domenico Roberti, Giovanni Battista Ferrero, Elisa De Michele, Francesco Arcioni, Ilaria Fotzi, Sarah Marktel, Antonella Poloni, Giulia Soverini, Epifania Rita Testa, Giusy Cabiddu, Carmelo Fortugno, Antonia Gigante, Francesca Polese, Davide Rapezzi, Antonella Sau, Gian Luca Forni, Maria Domenica Cappellini, Filomena Longo","doi":"10.1002/ajh.27758","DOIUrl":"https://doi.org/10.1002/ajh.27758","url":null,"abstract":"<p>The randomized, placebo-controlled phase III BELIEVE study led to the approval of luspatercept to promote erythroid maturation in the United States and Europe [<span>1</span>]. Given the need for scientific evidence on its efficacy, tolerability, and safety in clinical practice, we evaluated the effects of luspatercept in 231 patients with transfusion-dependent thalassemia (TDT) (Figure S1) who received their first dose of the drug post-marketing at 27 Italian specialized centers under the patronage of the Società Italiana Talassemia ed Emoglobinopatie (Tables S1 and S2).</p>\u0000<p>The median treatment duration was 272 days (Q1–Q3: 150–531, range: 21–1007). At the time of data collection, 106 patients (45.9%) had discontinued the drug after a median time of 172 days of treatment (Q1–Q3: 99–307, range: 21–671) (Figures S2 and S3, Table S3). In part, the high number of patients who prematurely discontinued may be associated with the fact that the lives of these patients revolve around transfusions and the transfusion cycle governs every aspect of their existence. Consequently, the loss of a normal transfusion schedule and/or transfusion independence can create anxiety and insecurity. A solid doctor-patient therapeutic alliance is essential to begin therapy under optimal conditions for success.</p>\u0000<p>In our study, both the primary and secondary endpoints of the BELIEVE trial were achieved at comparable or significantly higher rates. During the treatment period, 44 patients (19%) had a transfusion-free interval of at least 8 weeks (median: 14.9 weeks, range: 8–115 weeks). Their characteristics are reported in Table S4. Notably, the analysis revealed a likelihood gradient: the probability of a greater response increased from β0 genotype to the association between heterozygosity for β-thalassemia and triplication or quadruplication of the α-globin genes.</p>\u0000<p>In the 13–24-week follow-up, 69 (29.9%) and 38 (16.4%) experienced ≥ 33% and ≥ 50% reduction in transfusion requirements, respectively (<i>p</i> = 0.05 and <i>p</i> = 0.006 compared with the BELIEVE study) [<span>1</span>]. Across the 12-week follow-up periods, 178 (77%) and 91 (39.3%) patients had ≥ 33% and ≥ 50% decrease in blood transfusion rate. A pairwise <i>t</i>-test focusing on the initial six 12-week follow-up periods demonstrated a significant and sustained reduction in the number of units of packed red blood cells (pRBC) and pRBC volume at the first follow-up (<i>p</i> < 0.001) (Figure 1A,B). Adopting a modified version of the response grading proposed by Musallam et al. [<span>2</span>], 15.5% of patients had an excellent response, 43.9% of patients had a good response, 22.3% of patients had a satisfactory response, and 18.2% of the patients experienced no efficacy, falling within the remaining cases (Table S5).</p>\u0000<figure><picture>\u0000<source media=\"(min-width: 1650px)\" srcset=\"/cms/asset/9fb1936a-3697-4b36-9ba1-2916cf221d1f/ajh27758-fig-0001-m.jpg\"/><img alt=\"Details are in the c","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":"36 1","pages":""},"PeriodicalIF":12.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144521336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome","authors":"D. Mark Layton, Barbara J. Bain","doi":"10.1002/ajh.27755","DOIUrl":"https://doi.org/10.1002/ajh.27755","url":null,"abstract":"","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":"2 1","pages":""},"PeriodicalIF":12.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144533065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Normalization of Cerebral Hemodynamics After Gene Therapy in Adults With Sickle Cell Disease.","authors":"Akshay Sharma, Jane S Hankins, Jaap-Jan Boelens, Maria Cancio, Radhika Peddinti, Lawrence Rispoli, Sarah Sloan, Sarah DiDominick Costa, Sharon Peled, Andrea Wiethoff, Ranganatha Sitaram, James L LaBelle","doi":"10.1002/ajh.27757","DOIUrl":"10.1002/ajh.27757","url":null,"abstract":"","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":10.1,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12269318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144504515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pirtobrutinib is an Effective Salvage Treatment After Ibrutinib in Bing–Neel Syndrome","authors":"Anna Maria Frustaci, Arianna Zappaterra, Gloria Turri, Valentina Rossi, Marina Deodato, Carlo Gambacorti‐Passerini, Roberto Cairoli, Romano Danesi, Alessandra Tedeschi","doi":"10.1002/ajh.27759","DOIUrl":"https://doi.org/10.1002/ajh.27759","url":null,"abstract":"","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":"45 1","pages":""},"PeriodicalIF":12.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pirtobrutinib is an Effective Salvage Treatment After Ibrutinib in Bing-Neel Syndrome.","authors":"Anna Maria Frustaci, Arianna Zappaterra, Gloria Turri, Valentina Rossi, Marina Deodato, Carlo Gambacorti-Passerini, Roberto Cairoli, Romano Danesi, Alessandra Tedeschi","doi":"10.1002/ajh.27759","DOIUrl":"https://doi.org/10.1002/ajh.27759","url":null,"abstract":"","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":10.1,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144504516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Normalization of Cerebral Hemodynamics After Gene Therapy in Adults With Sickle Cell Disease","authors":"Akshay Sharma, Jane S. Hankins, Jaap‐Jan Boelens, Maria Cancio, Radhika Peddinti, Lawrence Rispoli, Sarah Sloan, Sarah DiDominick Costa, Sharon Peled, Andrea Wiethoff, Ranganatha Sitaram, James L. LaBelle","doi":"10.1002/ajh.27757","DOIUrl":"https://doi.org/10.1002/ajh.27757","url":null,"abstract":"","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":"270 1","pages":""},"PeriodicalIF":12.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Loss of Function SPTA1 Variants Causes Neonatal Liver Failure and Fetal Anemia.","authors":"John Brewin,Barnaby Clark,Frances Smith,Nicholas Parkin,Amina Nardo-Marino,Adam Gassas,Maesha Deheragoda,Jonathon Hind,Sue Height,Subarna Chakravorty,Anil Dhawan,David Rees","doi":"10.1002/ajh.27751","DOIUrl":"https://doi.org/10.1002/ajh.27751","url":null,"abstract":"","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":"26 1","pages":""},"PeriodicalIF":12.8,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144488109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frailty, Genetic Risk, and Long-Term Risk of Venous Thromboembolism: Insight From a UK Biobank Study.","authors":"Jiatang Xu,Qiushi Ren,Yangfan Su,Liling Lin,Runnan Shen,Kai Huang","doi":"10.1002/ajh.27753","DOIUrl":"https://doi.org/10.1002/ajh.27753","url":null,"abstract":"Frailty is more prevalent among venous thromboembolism (VTE) patients. However, the relationship between long-term VTE risk and frailty remained unexplored. This study included 315 523 participants recruited from UK Biobank between 2006 and 2010. Frailty status of participants at recruitment was evaluated by physical frailty and frailty index. The association between frailty and long-term risk of VTE was assessed through Cox proportional models. After excluded participants without genetic data, we further explored the interaction and joint effect between frailty and genetic risk in 258 461 participants. Mediation analyses were performed to investigate whether frailty mediates the association between cancer, obesity, and VTE. Results revealed significant associations between frailty and increased risk of VTE (physical frailty: HR, 1.63; 95% CI, 1.49-1.78; frailty index: HR, 1.66; 95% CI, 1.53-1.78). Participants with high genetic risk and frailty exhibited the highest VTE risk (physical frailty: HR, 3.83; 95% CI, 3.22-4.55; frailty index: HR, 3.96; 95% CI, 3.41-4.62). Frailty and genetic risk exhibited a significant additive interaction, with a relative excess risk due to interaction (RERI) of 0.76 in the physical frailty cohort, and a RERI of 1.11 in the frailty index cohort. Frailty mediated approximately 14% of the association between cancer and VTE, and 9% of the association between obesity and VTE. In conclusion, frailty is significantly associated with an increased long-term risk of VTE in the general population. Combining frailty and genetic risk can assist in the identification of high-risk VTE populations. Also, frailty significantly mediates the association between cancer, obesity, and VTE.","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":"101 1","pages":""},"PeriodicalIF":12.8,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144370200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}