Annals of Hematology最新文献_第4页

Establishing prognostic markers associated with neutrophil extracellular traps and the activated contact system in thrombotic microangiopathy. 在血栓性微血管病中建立与中性粒细胞胞外陷阱和活化接触系统相关的预后标志物。

IF 2.4 3区医学

Annals of Hematology Pub Date : 2025-09-24 DOI: 10.1007/s00277-025-06612-7

Su Sung Kim, Ja Yoon Gu, Sung Yoon Choi, Yujin Jung, Yoon Hwan Chang, Seon Young Kim, Hyun Kyung Kim

{"title":"Establishing prognostic markers associated with neutrophil extracellular traps and the activated contact system in thrombotic microangiopathy.","authors":"Su Sung Kim, Ja Yoon Gu, Sung Yoon Choi, Yujin Jung, Yoon Hwan Chang, Seon Young Kim, Hyun Kyung Kim","doi":"10.1007/s00277-025-06612-7","DOIUrl":"https://doi.org/10.1007/s00277-025-06612-7","url":null,"abstract":"Thrombotic microangiopathy (TMA) is a life-threatening thrombotic disorder. Neutrophil extracellular traps (NETs) and activation of the contact system are known to promote and propagate the formation of thrombus. Our study assessed the prognostic values of multiple NET markers and a contact system activation marker in patients with clinically suspected TMA. Patients (n = 138) with clinically suspected TMA were analyzed for the circulating levels of NET markers (neutrophil elastase, histone-DNA complexes, citrullinated histone H3 [Cit H3], and cell-free double-stranded DNA [dsDNA]); the contact system activation marker (activated factor XII [factor XIIa]); and other TMA-associated markers (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 [ADAMTS13] activity, von Willebrand factor antigen [vWF:Ag], von Willebrand factor ristocetin cofactor activity [vWF:Rco], and platelet counts). Low ADAMTS13 activity (hazard ratio [HR]: 4.85, P = 0.033), high vWF:Rco (HR: 9.46, P = 0.037), low platelet counts (HR: 7.45, P = 0.017), and high histone-DNA complexes (HR: 8.43, P = 0.015) were identified as independent markers of high mortality in multivariable Cox proportional hazards regression analysis. ADAMTS13, vWF:Rco, platelet counts, and histone-DNA complexes can be useful markers for identifying TMA patients at high risk of mortality.","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145129944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

USP7 mutations are associated with adverse outcomes in pediatric T cell acute lymphoblastic leukemia and lymphoma. USP7突变与儿童T细胞急性淋巴细胞白血病和淋巴瘤的不良结局相关。

IF 2.4 3区医学

Annals of Hematology Pub Date : 2025-09-22 DOI: 10.1007/s00277-025-06582-w

Jun Li, Yuan Yuan, Feng-Feng Niu, Ying Wang, Wei Lin, Rui-Dong Zhang, Ling Jin, Yan-Long Duan, Chao Gao

{"title":"USP7 mutations are associated with adverse outcomes in pediatric T cell acute lymphoblastic leukemia and lymphoma.","authors":"Jun Li, Yuan Yuan, Feng-Feng Niu, Ying Wang, Wei Lin, Rui-Dong Zhang, Ling Jin, Yan-Long Duan, Chao Gao","doi":"10.1007/s00277-025-06582-w","DOIUrl":"https://doi.org/10.1007/s00277-025-06582-w","url":null,"abstract":"USP7 alterations in pediatric T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL) remains incompletely understood. We investigated the clinical features and long-term outcomes associated with USP7 mutations in a cohort of 313 pediatric T-ALL/LBL patients. USP7 and NOTCH1 mutations were detected by Sanger sequencing and their association with prognosis were analyzed. Cox regression and nomogram models were used to evaluate prognostic importance. We identified 12 patients with USP7 heterozygous mutations (10 T-ALL, 2 T-LBL) with older age and higher proportion of not remission at day 15 morphological evaluation. Patients with USP7 mutation showed significantly worse event-free survival (EFS) and overall survival (OS) compared to wild-type cases, both in T-ALL and combined T-ALL/LBL cohorts. Concurrent analysis of USP7 and NOTCH1 mutations revealed USP7mutNOTCH1wt genotype was associated with the worst, whereas USP7wtNOTCH1mut was linked to the best EFS and OS in both T-ALL and T-ALL/LBL groups. USP7 mutation, pre-consolidation MRD ≥ 10-4 and CNS leukemia were independent adverse factors for EFS, and the former two were also predictors for OS. USP7 mutation status was validated as the most influential prognostic factor, with prediction models including USP7 status showing enhanced accuracy. In conclusion, USP7 mutations define a subset of T-ALL/LBL patients with adverse outcomes on conventional intensive treatment.","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145111929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Imatinib and blinatumomab successfully rescued a pediatric B-ALL patient with TERF2::PDGFRB fusion resistant to dasatinib and chemotherapy. 伊马替尼和布利纳单抗成功拯救了一名对达沙替尼和化疗耐药的TERF2::PDGFRB融合的儿童B-ALL患者。

IF 2.4 3区医学

Annals of Hematology Pub Date : 2025-09-20 DOI: 10.1007/s00277-025-06620-7

Fanghua Ye, Leyuan Wang, Yujie Qian, Wenjun Deng, Yan Yu, Liangchun Yang

引用次数: 0

Treatment persistence and overall survival in myelofibrosis treated with ruxolitinib were not affected by the covid-19 pandemic, despite the reduced starting dose: Analysis of AIFA registries. 使用ruxolitinib治疗的骨髓纤维化患者的治疗持久性和总生存率不受covid-19大流行的影响，尽管起始剂量降低：AIFA登记分析。

IF 2.4 3区医学

Annals of Hematology Pub Date : 2025-09-20 DOI: 10.1007/s00277-025-06601-w

Massimo Breccia, Simone Celant, Francesca Palandri, Francesco Passamonti, Pier Paolo Olimpieri, Valentina Summa, Annalisa Guarcello, Giuseppe Alberto Palumbo, Fabrizio Pane, Paola Guglielmelli, Pierluigi Zinzani, Paolo Corradini, Pierluigi Russo

{"title":"Treatment persistence and overall survival in myelofibrosis treated with ruxolitinib were not affected by the covid-19 pandemic, despite the reduced starting dose: Analysis of AIFA registries.","authors":"Massimo Breccia, Simone Celant, Francesca Palandri, Francesco Passamonti, Pier Paolo Olimpieri, Valentina Summa, Annalisa Guarcello, Giuseppe Alberto Palumbo, Fabrizio Pane, Paola Guglielmelli, Pierluigi Zinzani, Paolo Corradini, Pierluigi Russo","doi":"10.1007/s00277-025-06601-w","DOIUrl":"https://doi.org/10.1007/s00277-025-06601-w","url":null,"abstract":"We analyzed the outcome of 2229 patients with myelofibrosis (MF) treated with ruxolitinib before and after the COVID-19 pandemic. Two populations of MF were defined from the AIFA web monitoring registries: the pre-COVID-19 (1703, 76.4%) and the post-COVID-19 (526, 23.6%) cohorts. The two populations were balanced using the Inversity Probability of Treatment Weighting. The median age was 69 years and 73 years in the pre- and post- COVID-19 era, respectively. There were no differences in spleen diameters at baseline prior to ruxolitinib in the two groups, but a difference in median spleen volume was noted (961 cm3 in the pre-era and 788.3 cm3 in the post-era). Overall, intermediate-2 IPSS risk were 67.2% in the pre- and 72% in the post-era, whereas the high-risk category was 32.7% and 27.9%, respectively. More patients started on a reduced dose in the post-COVID-19 era (73.5% versus 65% in the pre-era). After adjusting for the differences, an analysis of overall survival revealed no differences between the two groups (HR 0.875, p > 0.05). Patients who started ruxolitinib after COVID-19 had similar probability to stop treatment in the follow-up (HR 0.956, p > 0.05). The results indicate that COVID-19 did not affect the duration of treatment and the relative OS.","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145090988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical features and prognosis analysis of patients with follicular lymphoma: a real-world study in China. 中国滤泡性淋巴瘤患者的临床特征及预后分析。

IF 2.4 3区医学

Annals of Hematology Pub Date : 2025-09-20 DOI: 10.1007/s00277-025-06617-2

Yang Su, Qi Hu, Weili Zhao, Chi Liu, Li Wang, Shu Cheng, Pengpeng Xu, Linlin Liu, Wenzhong Yang

{"title":"Clinical features and prognosis analysis of patients with follicular lymphoma: a real-world study in China.","authors":"Yang Su, Qi Hu, Weili Zhao, Chi Liu, Li Wang, Shu Cheng, Pengpeng Xu, Linlin Liu, Wenzhong Yang","doi":"10.1007/s00277-025-06617-2","DOIUrl":"https://doi.org/10.1007/s00277-025-06617-2","url":null,"abstract":"Follicular lymphoma (FL) is a common indolent B-cell lymphoma with heterogeneous clinical behavior. Prognostic data from Chinese real-world populations remain Limited. We retrospectively analyzed 118 patients with newly diagnosed FL treated at our center from January 2022 to December 2024. Clinical features, laboratory indicators, immune markers, and treatment responses were evaluated. Survival outcomes were analyzed using Kaplan-Meier and Cox regression methods. The follow-up ended on January 31, 2025, with a median follow-up duration of 11.2 months (range, 1.1-36.0 months). The 2-year overall survival (OS) and progression-free survival (PFS) rates were 90.1% and 69.7%, respectively. The overall complete response (CR) rate was 60.2%. In univariate analysis, several factors including pathological grade 3B/composite histology, B symptoms, low NK cell percentage (< 8%), low CD4+ T cell levels (< 30%), CD5 positivity, CD10 negativity, and MUM1 positivity were significantly associated with poor OS and/or PFS. Multivariate Cox regression revealed that pathological grade 3B/composite histology was an independent risk factor for PFS (HR 2.933, P = 0.035), while NK cell percentage < 8% independently predicted worse OS (HR 0.067, P = 0.005). This study validates the prognostic significance of pathological grade and NK cell levels in a Chinese real-world FL population. Peripheral blood NK cell percentage may serve as a clinically useful biomarker for host immune status and prognosis. The findings support further investigation into immune-based prognostic markers and therapeutic strategies in FL.","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145090939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Elevated fibrosis‑4 index is associated with 30-day mortality in adult hemophagocytic lymphohistiocytosis patients. 成人噬血细胞淋巴组织细胞增多症患者纤维化- 4指数升高与30天死亡率相关。

IF 2.4 3区医学

Annals of Hematology Pub Date : 2025-09-20 DOI: 10.1007/s00277-025-06623-4

Jun Zhou, Mengxiao Xie, Mingjun Xie, Zhi-Qi Wu Wu, Hua-Guo Xu

{"title":"Elevated fibrosis‑4 index is associated with 30-day mortality in adult hemophagocytic lymphohistiocytosis patients.","authors":"Jun Zhou, Mengxiao Xie, Mingjun Xie, Zhi-Qi Wu Wu, Hua-Guo Xu","doi":"10.1007/s00277-025-06623-4","DOIUrl":"https://doi.org/10.1007/s00277-025-06623-4","url":null,"abstract":"Introduction: Hemophagocytic lymphohistiocytosis (HLH) is a rare and fatal disease. The Fibrosis-4 (FIB-4) index is a non-invasive score for distinguishing patients with normal/mild elevation of liver transaminase, but its correlation with adult HLH and 30-day mortality is unclear. The aim of this study was to explore the relationship between admission FIB-4 and 30-day mortality in adult patients with HLH.Methods: A retrospective investigation of 467 adult patients with HLH was conducted. Logistic regression analysis and receiver operating characteristic (ROC) curves were used to analyze risk factors.Result: Of the 467 adult patients with HLH, 145 (31.0%) died. Elevated admission FIB-4 is an independent risk index for 30-day mortality in adult HLH patients and subgroups. The areas under the ROC curve (AUC) of admission FIB-4 for forecasting 30-day Mortality were 0.716 for the total HLH group and 0.751 for the male HLH group. Moreover, the combination of admission FIB-4 and ferritin had the best predictive ability (AUC = 0.753 for the total group and AUC = 0.775 for the male group).Conclusions: Admission FIB-4 is an independent, inexpensive, and universally applicable factor for clinicians to recognize high-risk patients with fair value.","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145090977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The diagnosis and clinical characterization of -α3.7/--SEA thalassemia patients: two cases report. -α3.7/—SEA地中海贫血2例诊断及临床特点分析

IF 2.4 3区医学

Annals of Hematology Pub Date : 2025-09-19 DOI: 10.1007/s00277-025-06607-4

Xiuling Wang, Yu Ding, Zhiyong Huang, Jin Huang

{"title":"The diagnosis and clinical characterization of -α3.7/--SEA thalassemia patients: two cases report.","authors":"Xiuling Wang, Yu Ding, Zhiyong Huang, Jin Huang","doi":"10.1007/s00277-025-06607-4","DOIUrl":"https://doi.org/10.1007/s00277-025-06607-4","url":null,"abstract":"α-thalassemia is a hereditary hemolytic anemia, in which the clinical manifestations vary greatly depending on the degree of α-globin gene deletion. -α3.7/--SEA thalassemia is an intermediate type of α-thalassemia, with three α-globin genes deletion. The clinical symptoms of -α3.7/--SEA thalassemia vary from mild to moderate anemia [1]. However, little studies had reported the diagnosis and clinical symptoms of -α3.7/--SEA thalassemia. Here we reported two cases of -α3.7/--SEA thalassemia, one inpatient for chronic headache and one outpatient for elevated bilirubin. Two patients were first subjected to blood test, and the laboratory data showed the decreased hemoglobin concentration and mean corpuscular volume. Peripheral blood cells smear displayed that the mature red blood cells were markedly different in size, with enlarged central pale area, occasional oval red blood cells, suggesting the potential microcytic hypochromic anemia. Hemoglobin electrophoresis displayed the low level of HbA2, indicating the α-thalassemia or δ-thalassemia. Reverse dot blot hybridization assay detected the deletion of α-globin genes in the two cases. After ameliorative treatment for anemia, the inpatient's headache was significantly relieved and stable. Comprehensive judgment of clinical symptoms and laboratory test results is applicative for -α3.7/--SEA thalassemia diagnosis. -α3.7/--SEA thalassemia may lead to individual differences in clinical symptoms and complications, which requires more attention and early treatment.","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Late-onset hemophagocytic lymphohistiocytosis associated with monoallelic STX11 mutation in an adult: a case report and rationale for early allogeneic hematopoietic cell transplantation. 成人中与单等位基因STX11突变相关的晚发性噬血细胞淋巴组织细胞病：一例报告和早期异基因造血细胞移植的基本原理

IF 2.4 3区医学

Annals of Hematology Pub Date : 2025-09-19 DOI: 10.1007/s00277-025-06599-1

Jan Mateusz Zaucha, Andrzej Mital, Michał Taszner, Agata Ogłoza, Jan Maciej Zaucha, Rafał Machowicz

{"title":"Late-onset hemophagocytic lymphohistiocytosis associated with monoallelic STX11 mutation in an adult: a case report and rationale for early allogeneic hematopoietic cell transplantation.","authors":"Jan Mateusz Zaucha, Andrzej Mital, Michał Taszner, Agata Ogłoza, Jan Maciej Zaucha, Rafał Machowicz","doi":"10.1007/s00277-025-06599-1","DOIUrl":"https://doi.org/10.1007/s00277-025-06599-1","url":null,"abstract":"Late-onset familial hemophagocytic lymphohistiocytosis (fHLH) remains a diagnostic and therapeutic challenge, particularly in adult patients presenting without a clear family history. We report a fatal case of HLH in a previously healthy adult harboring a monoallelic STX11 mutation. The patient presented with progressive jaundice, persistent high-grade fever, and pancytopenia, and was unresponsive to HLH-2004 protocol therapy with etoposide and dexamethasone, as well as subsequent salvage regimens. Despite aggressive treatment, the disease remained refractory, ultimately resulting in multi-organ failure. This case, alongside a review of reported adult-onset fHLH cases, highlights the diagnostic value of early genetic testing in adults with unexplained HLH, especially after secondary causes have been ruled out. Our findings underscore the importance of timely consideration of underlying genetic predisposition, even in the absence of biallelic mutations or childhood onset. Given the poor response to conventional therapies, early referral for allogeneic hematopoietic cell transplantation should be prioritized in suspected or confirmed fHLH cases to improve survival outcomes.","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Morbidity and mortality of sickle cell disease in Côte d'Ivoire. Côte科特迪瓦镰状细胞病的发病率和死亡率。

IF 2.4 3区医学

Annals of Hematology Pub Date : 2025-09-19 DOI: 10.1007/s00277-025-06512-w

Jacques Fabrice Konan Koffi, Renée-Paule Botti, Roméo Ayemou, Aya Annick Charlene N'dri, Awa Ouattara, Eudoxie-Emmanuelle Gneblo, Kouassi Gustave Koffi

{"title":"Morbidity and mortality of sickle cell disease in Côte d'Ivoire.","authors":"Jacques Fabrice Konan Koffi, Renée-Paule Botti, Roméo Ayemou, Aya Annick Charlene N'dri, Awa Ouattara, Eudoxie-Emmanuelle Gneblo, Kouassi Gustave Koffi","doi":"10.1007/s00277-025-06512-w","DOIUrl":"https://doi.org/10.1007/s00277-025-06512-w","url":null,"abstract":"Sickle cell anemia is a frequent constitutional disease with serious consequences. Despite the progress made in its management, morbidity and mortality. The aim of this study was to contribute to the study of morbidity and mortality in sickle cell disease in Côte d'Ivoire. retrospective, descriptive and analytical, bi-centric study based on 315 sickle cell patients followed from January 2011 to January 2021, selected according to a systematic random selection. The mortality rate was 15.2%, with acute severe anemia topped the list at 45.8%, followed by infections at 29.2%. The mean age was 18.44 years. Females predominated, with a sex ratio of 0.7. Access to treatment was difficult for 23%, and 86% of patients were uninsured. Clinically, 49.5% of patients had been hospitalized, and the main reason for hospitalization was vaso-occlusive crisis. (73%). 76.5% of subjects were not up to date with their vaccinations. 99% of patients had a treatment, including vasodilators 79.8% vasodilators and 68.9% folic acid. Follow-up was acceptable in 72.3% of cases. The incidence rate of complications was 26%, and the three groups anemic, infectious and ischemic complications, with a predominance of anemic complications at 45.1%. The incidence of complications and mortality remain high; the main causes are the same as those literature.","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions. 莆田地区地中海贫血基因分析：与全球其他地区突变谱的比较。

IF 2.4 3区医学

Annals of Hematology Pub Date : 2025-09-19 DOI: 10.1007/s00277-025-06604-7

Liumin Yu, Guanghui Xu, Zhanfei Chen, Kun Lin, Jinqiu Li, Hua Lin

{"title":"Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions.","authors":"Liumin Yu, Guanghui Xu, Zhanfei Chen, Kun Lin, Jinqiu Li, Hua Lin","doi":"10.1007/s00277-025-06604-7","DOIUrl":"https://doi.org/10.1007/s00277-025-06604-7","url":null,"abstract":"Thalassemia is one of the most prevalent inherited hemolytic diseases. This study aimed to characterize thalassemia mutations and provide an epidemiological basis for prevention and control of the disorder in Putian. A total of 6,380 individuals were enrolled in Putian from March 2017 to February 2025. Common thalassemia mutations were screened by polymerase chain reaction-flow-through hybridization, while rare thalassemia gene variants were detected by gel electrophoresis and DNA sequencing. 2,264 cases (35.49%) were confirmed as thalassemia, including 1,418 cases of α-thalassemia, 807 cases of β-thalassemia, and 39 cases of co-inheritance of α- and β-thalassemia. Among the 31 α-thalassemia genotypes identified, deletions were predominant, including --SEA/αα (71.93%), -α3.7/αα (14.03%), and --SEA/-α3.7 (2.61%), with --SEA being the most frequent α-thalassemia allele. Of the 21 detected β-thalassemia genotypes, the most common were βIVS-II-654/βN (48.76%), βCD41-42/βN (27.35%), and βCD17/βN (10.40%), with βIVS-II-654 being the most frequent β-thalassemia allele. In addition, 18 distinct genotypes of co-inheritance of α- and β-thalassemia were identified. Population migration has introduced new thalassemia genotypes to Putian. It was also found that the carrier rate of thalassemia genes in the infertile population of Putian was twice that of the local general population.Compared to other global regions, the thalassemia gene mutation spectrum in Putian exhibits unique genotypic diversity and population heterogeneity; moreover, the prevalence of thalassemia is higher in the local infertile population than that in the general population. These findings will provide valuable insights for thalassemia prevention and genetic counseling in this region.","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0