British Journal of Haematology最新文献

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Reed-Sternberg-like cells in central nervous system relapse of diffuse large B-cell lymphoma. 弥漫性大b细胞淋巴瘤复发的中枢神经系统reed - sternberg样细胞。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-10-02 DOI: 10.1111/bjh.70174
Radu Chiriac, Lucile Baseggio
{"title":"Reed-Sternberg-like cells in central nervous system relapse of diffuse large B-cell lymphoma.","authors":"Radu Chiriac, Lucile Baseggio","doi":"10.1111/bjh.70174","DOIUrl":"https://doi.org/10.1111/bjh.70174","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Leucostasis-induced limb ischaemia in acute myeloid leukaemia. 急性髓性白血病中白血病诱导的肢体缺血。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-10-02 DOI: 10.1111/bjh.70177
Yorick Sandberg, Luna Mingels, Laura J C M van Zutven, King H Lam
{"title":"Leucostasis-induced limb ischaemia in acute myeloid leukaemia.","authors":"Yorick Sandberg, Luna Mingels, Laura J C M van Zutven, King H Lam","doi":"10.1111/bjh.70177","DOIUrl":"https://doi.org/10.1111/bjh.70177","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Targeting small ubiquitin-related modifier-specific protease 2 attenuates tumour progression and orchestrates the tumour immune microenvironment in diffuse large B-cell lymphoma. 在弥漫性大b细胞淋巴瘤中,靶向小泛素相关修饰因子特异性蛋白酶2可减缓肿瘤进展并协调肿瘤免疫微环境。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-10-01 DOI: 10.1111/bjh.70187
Xue Sheng, Dongmei Wang, Shuying Li, Boya Li, Mengfan Luan, Xiao Han, Qirui Zhou, Zhe Zhao, Chunyan Ji, Fei Lu, Jingjing Ye
{"title":"Targeting small ubiquitin-related modifier-specific protease 2 attenuates tumour progression and orchestrates the tumour immune microenvironment in diffuse large B-cell lymphoma.","authors":"Xue Sheng, Dongmei Wang, Shuying Li, Boya Li, Mengfan Luan, Xiao Han, Qirui Zhou, Zhe Zhao, Chunyan Ji, Fei Lu, Jingjing Ye","doi":"10.1111/bjh.70187","DOIUrl":"https://doi.org/10.1111/bjh.70187","url":null,"abstract":"<p><p>Diffuse large B-cell lymphoma (DLBCL) is a highly aggressive and heterogeneous haematological malignancy with poor outcomes, underscoring the need for novel therapeutic targets to improve remission rates. SUMO (small ubiquitin-related modifier)-specific protease 2 (SENP2) has been demonstrated to exert pleiotropic functions across diverse physiological processes and oncogenic transformation. Nevertheless, its precise function in DLBCL has rarely been investigated. Our research revealed that SENP2 was markedly overexpressed in DLBCL and its elevated levels were correlated with unfavourable prognosis. Furthermore, we constructed an integrative nomogram incorporating SENP2 expression and the International Prognostic Index score, which demonstrated robust predictive performance. Subsequently, SENP2 was validated to critically promote DLBCL cell proliferation both in vitro and in vivo. To investigate the underlying mechanisms, we performed RNA sequencing coupled with tumour infiltrating immune cells analysis, revealing that SENP2 knockout reduced myeloid-derived suppressor cell accumulation while simultaneously enhancing both the infiltration and functional activation of CD8<sup>+</sup> T cells. Finally, we performed virtual screening of Food and Drug Administration-approved drugs against SENP2, followed by re-docking analysis and identified four of the most promising candidates. Collectively, our findings characterized SENP2 as a novel prognostic biomarker and a promising therapeutic target in DLBCL.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Prognostic significance of pretransplant 18F-FDG PET/CT metrics in relapsed/refractory diffuse large B-cell lymphoma with partial response to salvage chemotherapy prior to autologous stem cell transplantation. 自体干细胞移植前对补救性化疗部分反应的复发/难治性弥漫性大b细胞淋巴瘤移植前18F-FDG PET/CT指标的预后意义
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-10-01 DOI: 10.1111/bjh.70186
Minseung Suh, Jaewon Hyung, Chan-Sik Park, Heounjeong Go, In Hye Song, Eun Jin Chae, Kyung Won Kim, Yoon Sei Lee, Minsu Kwon, Sang-Wook Lee, Jiwon Lee, Shin Kim, Kyoungmin Lee, Hyungwoo Cho, Jin-Sook Ryu, Dok Hyun Yoon
{"title":"Prognostic significance of pretransplant <sup>18</sup>F-FDG PET/CT metrics in relapsed/refractory diffuse large B-cell lymphoma with partial response to salvage chemotherapy prior to autologous stem cell transplantation.","authors":"Minseung Suh, Jaewon Hyung, Chan-Sik Park, Heounjeong Go, In Hye Song, Eun Jin Chae, Kyung Won Kim, Yoon Sei Lee, Minsu Kwon, Sang-Wook Lee, Jiwon Lee, Shin Kim, Kyoungmin Lee, Hyungwoo Cho, Jin-Sook Ryu, Dok Hyun Yoon","doi":"10.1111/bjh.70186","DOIUrl":"https://doi.org/10.1111/bjh.70186","url":null,"abstract":"<p><p>Relapsed/refractory diffuse large B-cell lymphoma (R/R DLBCL) patients with partial response (PR) to salvage chemotherapy show heterogeneous outcomes after autologous stem cell transplantation (ASCT). Current visual positron emission tomography (PET) assessment inadequately identifies patients likely to benefit from transplantation. We retrospectively evaluated the prognostic value of semiquantitative metrics from interim <sup>18</sup>F-fluorodeoxyglucose positron emission tomography/computed tomography (<sup>18</sup>F-FDG PET/CT) in 50 R/R DLBCL patients with PR to salvage chemotherapy who underwent ASCT. PET/CT scans were analysed visually using the Deauville 5-point scale and semiquantitatively using relative metrics measuring percentage maximum standardized uptake value (SUVmax) changes between baseline and interim scans (%ΔSUVmax-variants) and absolute metrics including tumour-to-liver SUV ratios (SUVTLR). Cut-off values were determined using quartile-based analysis. With a median follow-up of 107 months (range, 1.2-191.3), the median event-free survival (EFS) was 9.87 months. Interim SUVTLR ≥4.2 was the predictor of inferior EFS (hazard ratio [HR] 1.25, p = 0.002), while the percentage change in the hottest lesion's SUVmax (%ΔSUVmax-index) also showed prognostic significance (HR 0.91, p = 0.043). In contrast, visual Deauville scores at interim PET showed no prognostic difference between scores 4 and 5 (p = 0.094 for EFS). Therefore, semiquantitative PET metrics, particularly interim SUVTLR of 4.2, can provide prognostic information beyond visual assessment in PR patients prior to ASCT.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Infant acute lymphoblastic leukaemia-Progress from worldwide clinical efforts. 婴儿急性淋巴细胞白血病-全球临床研究进展。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-10-01 DOI: 10.1111/bjh.70166
Neil Barrett, Tanja A Gruber, Takako Miyamura, Alasdair Duguid, Janine Stutterheim
{"title":"Infant acute lymphoblastic leukaemia-Progress from worldwide clinical efforts.","authors":"Neil Barrett, Tanja A Gruber, Takako Miyamura, Alasdair Duguid, Janine Stutterheim","doi":"10.1111/bjh.70166","DOIUrl":"https://doi.org/10.1111/bjh.70166","url":null,"abstract":"<p><p>Infant acute lymphoblastic leukaemia (ALL) is a rare and aggressive type of leukaemia, especially when a KMT2A rearrangement is involved. Historical treatment strategies have included intensification of conventional ALL chemotherapy in combination with acute myeloid leukaemia treatment elements. However, outcomes have remained consistently poor compared to the advances that have been seen in childhood ALL. The emergence of novel immunotherapies has transformed treatment strategies, with blinatumomab now incorporated into clinical trials for infants with KMT2A-rearranged ALL, promising significant advancements. Additionally, deeper insights into the unique biology of KMT2A-rearranged ALL have facilitated the development of targeted therapies, such as venetoclax and menin inhibitors, which are under clinical evaluation. These efforts offer renewed hope for better outcomes. This review highlights the substantial progress in understanding and treating KMT2A-rearranged ALL, fuelling optimism for future therapeutic success. In addition, we highlight the challenges that might be faced by using immunotherapy.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Ten years of RASGRP2-related platelet disorder: Implications for molecular haematology and diagnostics. 十年的rasgrp2相关血小板疾病:对分子血液学和诊断的影响
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-30 DOI: 10.1111/bjh.70163
Jehan Mousa, Tarek Nayfeh, Mariah Malak Bilalaga, Larry Prokop, Ehab Y Harahsheh, Bukola A Olarewaju, Mohammed Tiseer Abbas, Monica M Crowe, Erin R Alexander, Oluwabusayo M Osundiji, Misha B Asif, Radhika Dhamija, John K Camoriano, Ann M Moyer, Mayowa A Osundiji
{"title":"Ten years of RASGRP2-related platelet disorder: Implications for molecular haematology and diagnostics.","authors":"Jehan Mousa, Tarek Nayfeh, Mariah Malak Bilalaga, Larry Prokop, Ehab Y Harahsheh, Bukola A Olarewaju, Mohammed Tiseer Abbas, Monica M Crowe, Erin R Alexander, Oluwabusayo M Osundiji, Misha B Asif, Radhika Dhamija, John K Camoriano, Ann M Moyer, Mayowa A Osundiji","doi":"10.1111/bjh.70163","DOIUrl":"https://doi.org/10.1111/bjh.70163","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Optimizing activation and culture conditions for the production of cord blood-derived CAR-T and natural killer cells. 优化脐带血来源CAR-T细胞和自然杀伤细胞的激活和培养条件。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-30 DOI: 10.1111/bjh.70139
Naokazu Nakamura, Jiyuan Liao, Yasushi Soda, Mizuho Takahashi, Hiroto Kodera, Yukage Kobari, Yukihiko Hirai, Akifumi Takaori-Kondo, Takashi Okada
{"title":"Optimizing activation and culture conditions for the production of cord blood-derived CAR-T and natural killer cells.","authors":"Naokazu Nakamura, Jiyuan Liao, Yasushi Soda, Mizuho Takahashi, Hiroto Kodera, Yukage Kobari, Yukihiko Hirai, Akifumi Takaori-Kondo, Takashi Okada","doi":"10.1111/bjh.70139","DOIUrl":"https://doi.org/10.1111/bjh.70139","url":null,"abstract":"<p><p>Cord blood (CB) is gaining attention as a source of chimeric antigen receptor (CAR) T/NK cells. Many studies have focused on the therapeutic effects, but the methods of activating and culturing T/NK cells without excessive exhaustion during the initial stages of the production of CB-derived CAR-T/NK cells are yet to be established. The activation and culture conditions developed for peripheral blood (PB) CAR-T/NK cells have been used for CB-CAR-T/NK cells, but there are differences in the composition and maturity of PB and CB lymphocytes. Thus, this study aims to optimize activation and culture conditions for the production of CB-CAR-T/NK cells. We compared different doses of various cytokines and found that the balance between activation and exhaustion was best with stimulation with a CD3/CD28 agonist followed by 40 U/mL interleukin (IL)-7+ 40 U/mL IL-15 for PB-T cells; 40 U/mL IL-2+ 40 U/mL IL-7+ 40 U/mL IL-15 for CB-T cells; 40 U/mL IL-2+ 40 U/mL IL-15 for PB-NK cells; and 40 U/mL IL-2+ 200 U/mL IL-15 for CB-NK cells. Using killing assays, we confirmed that these cytokine protocols improved the anti-tumour effects. These results will be useful for the development of CB-CAR-T/NK-cell therapies and suggest the potential of these modalities.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Outcomes after a second allogeneic haematopoietic stem cell transplant for relapsed paediatric acute myeloid leukaemia improved over time: A study from the EBMT Paediatric Diseases Working Party. EBMT儿科疾病工作组的一项研究表明,第二次同种异体造血干细胞移植治疗复发的儿科急性髓性白血病后的结果随着时间的推移而改善。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-30 DOI: 10.1111/bjh.70167
Nimrod Buchbinder, Victor Michel, Arnaud Dalissier, Katharina Kleinschmidt, Franco Locatelli, Alexei Maschan, Robert Wynn, Franca Fagioli, Marco Zecca, Charlotte Jubert, Birgitta Versluys, Petr Sedlacek, Ludmila Zubarovskaya, Marta Gonzalez Vicent, Alessandra Biffi, Gérard Michel, Oana Mirci-Danicar, Wolfgang Holter, Marc Ansari, Jacques-Emmanuel Galimard, Pascale Schneider, Mouad Abouqateb, Krzysztof Kałwak
{"title":"Outcomes after a second allogeneic haematopoietic stem cell transplant for relapsed paediatric acute myeloid leukaemia improved over time: A study from the EBMT Paediatric Diseases Working Party.","authors":"Nimrod Buchbinder, Victor Michel, Arnaud Dalissier, Katharina Kleinschmidt, Franco Locatelli, Alexei Maschan, Robert Wynn, Franca Fagioli, Marco Zecca, Charlotte Jubert, Birgitta Versluys, Petr Sedlacek, Ludmila Zubarovskaya, Marta Gonzalez Vicent, Alessandra Biffi, Gérard Michel, Oana Mirci-Danicar, Wolfgang Holter, Marc Ansari, Jacques-Emmanuel Galimard, Pascale Schneider, Mouad Abouqateb, Krzysztof Kałwak","doi":"10.1111/bjh.70167","DOIUrl":"https://doi.org/10.1111/bjh.70167","url":null,"abstract":"<p><p>Evolution of acute myeloid leukaemia (AML) treatments and transplantation procedures may affect outcomes after second haematopoietic stem cell transplantation (HSCT2) for relapsed paediatric AML. We analysed 345 paediatric patients reported to the European Society for Bone Marrow Transplantation (EBMT) registry for HSCT2 performed for AML relapse post-HSCT between 2000 and 2022. Multivariable analyses were adjusted for sex, age, transplant period, donor, disease status pre-HSCT2, cytogenetics, conditioning, total body irradiation (TBI) and post-first haematopoietic stem cell transplantation (HSCT1) remission duration. At three years leukaemia-free survival (LFS), overall survival (OS), non-relapse mortality (NRM), relapse incidence (RI) and graft-versus-host disease (GVHD)/relapse-free survival (GRFS) were 30.2%, 37.5%, 19.1%, 50.7% and 20.7% respectively. Compared with the 2000-2013 period, HSCT2 performed in 2014-2022 had better LFS (hazard ration [HR]: 0.66, 95% confidence interval [95% CI]: 0.48-0.90; 3-year: 34.3% vs. 26.3%), OS (HR: 0.60, 95% CI: 0.42-0.84; 3-year: 42.9% vs. 32.8%), RI (HR: 0.66, 95% CI: 0.46-0.98; 3-year: 46.0% vs. 54.7%) and GRFS (HR: 0.65, 95% CI: 0.48-0.90; 3-year: 25.3% vs. 16.1%) while NRM and GVHD incidence were stable. Relapse >6 months post-HSCT1 and remission pre-HSCT2 were associated with better LFS, OS and RI. Conditioning and cytogenetics did not influence outcomes. Mismatched unrelated donor negatively affected OS. These results highlight the improving survival after HSCT2 and support it in selected patients, particularly those relapsing later and in remission at HSCT2.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Platelet dysfunction in immune thrombocytopenia: Finding clinical subsets with platelet phenotypes. 免疫性血小板减少症的血小板功能障碍:发现血小板表型的临床亚群。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-29 DOI: 10.1111/bjh.70179
Sidra A Ali, Sarah M Hicks, Lucy A Coupland, Simone A Brysland, Vijay Bhoopalan, Yee Lin Thong, Amandeep Kaur, Robert K Andrews, Elizabeth E Gardiner, Philip Y-I Choi
{"title":"Platelet dysfunction in immune thrombocytopenia: Finding clinical subsets with platelet phenotypes.","authors":"Sidra A Ali, Sarah M Hicks, Lucy A Coupland, Simone A Brysland, Vijay Bhoopalan, Yee Lin Thong, Amandeep Kaur, Robert K Andrews, Elizabeth E Gardiner, Philip Y-I Choi","doi":"10.1111/bjh.70179","DOIUrl":"https://doi.org/10.1111/bjh.70179","url":null,"abstract":"<p><p>Patients with immune thrombocytopenia (ITP) remain a challenge to diagnose, manage and predict bleeding risk. A comprehensive assessment of platelet function may aid clinical management. This study assessed platelet parameters to predict bleeding in ITP. Blood from 103 clinically annotated cases with isolated thrombocytopenia and 123 healthy donors was evaluated. In the ITP cohort, 75/110 encounters (68%) had platelet counts below 50 × 10<sup>9</sup>/L. Platelet surface proteins, reticulated platelets and activation were quantified using flow cytometry. Soluble receptor fragments, citrullinated histone-DNA (CitH3-DNA) complexes and thrombopoietin (TPO) were quantified by enzyme-linked immunosorbent assay (ELISA). Whole blood clotting and platelet contribution to clot formation were evaluated using viscoelastography. Elevated levels of glycoprotein (GP) VI (p = 0.0012), Trem-like transcript-1 (TLT-1) (p = 0.0248), platelet-bound immunoglobulin (Ig) G (p < 0.0029), CitH3-DNA complexes (p = 0.0022), TPO (p < 0.0001) and reduced platelet contribution to clot formation (p < 0.0001) were observed in primary ITP patients with bleeding and bruising symptoms. A multivariable analysis revealed that measuring platelet indices strengthened a predictive bleeding model over platelet count alone (78.1% vs. 70.48%). Symptomatic ITP patients have measurable platelet dysfunction and quantifiable differences on platelet surface, increased evidence of NETosis and elevated TPO levels. Identifying biomarkers for ITP outcomes can define subsets of disease with clinical relevance.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Systematic point-of-care newborn screening for sickle cell disease in rural Mali, West Africa. 西非马里农村新生儿镰状细胞病系统点护理筛查。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-28 DOI: 10.1111/bjh.70158
Aldiouma Guindo, Kory Cablay, Joseph Kamate, Brett MacLean, David Saye, Philadelphie Dembele, Alan R Anderson
{"title":"Systematic point-of-care newborn screening for sickle cell disease in rural Mali, West Africa.","authors":"Aldiouma Guindo, Kory Cablay, Joseph Kamate, Brett MacLean, David Saye, Philadelphie Dembele, Alan R Anderson","doi":"10.1111/bjh.70158","DOIUrl":"https://doi.org/10.1111/bjh.70158","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a leading cause of under-five mortality in sub-Saharan Africa (SSA), yet newborn screening in rural settings remains scarce. We evaluated the feasibility, coverage and yield of a point-of-care (POC) screening programme at Koutiala Hospital for Women and Children (KHWC) in rural Mali, using HemotypeSC™. From March 2019 to 2025, newborns born at KHWC were offered POC screening within 24 h of birth. Heel-stick blood was applied to the HemotypeSC™ strip and results were read at 10 min. Culturally sensitive education was provided to all, and newborns with SCD were enrolled in the hospital's sickle cell programme for clinical management. Screening coverage, haemoglobin subtypes and carrier prevalence were calculated descriptively. Over 6 years, 18 164 newborns were delivered, with 18 015 (99.2%) successfully screened. We identified 118 haemoglobin SS (HbSS) (0.66%), 123 haemoglobin SC (HbSC) (0.68%) and 79 haemoglobin CC (HbCC) (0.44%). The prevalence of SCD (HbSS+HbSC) was 1.34%, with carrier frequencies of 8.89% for haemoglobin AS (HbAS) and 8.68% for haemoglobin AC(HbAC) (17.56% overall). Screening with HemotypeSC™ achieved near universal coverage in a high-volume rural hospital, identifying substantial SCD and carrier burdens. This model supports scale-up across rural SSA to bridge diagnostic gaps and link newborns to life-saving care.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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