Expert Review of Hematology最新文献

Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome. 克隆造血遇到自身炎症性疾病：VEXAS综合征的新范式。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2025-05-30 DOI: 10.1080/17474086.2025.2508505

Martina Fiumara, Raffaella Molteni, Gianluca Scorpio, Alessandro Tomelleri, Gregorio Maria Bergonzi, Samuele Ferrari, Marco Matucci-Cerinic, Simone Cenci, Lorenzo Dagna, Fabio Ciceri, Elisa Diral, Corrado Campochiaro

{"title":"Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome.","authors":"Martina Fiumara, Raffaella Molteni, Gianluca Scorpio, Alessandro Tomelleri, Gregorio Maria Bergonzi, Samuele Ferrari, Marco Matucci-Cerinic, Simone Cenci, Lorenzo Dagna, Fabio Ciceri, Elisa Diral, Corrado Campochiaro","doi":"10.1080/17474086.2025.2508505","DOIUrl":"10.1080/17474086.2025.2508505","url":null,"abstract":"Introduction: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an acquired autoinflammatory disorder caused by somatic mutations in the UBA1 gene. Predominantly affecting males over 50, the disease presents with systemic inflammation, hematologic abnormalities, and features of clonal hematopoiesis, with nearly half of patients developing myelodysplastic syndromes (MDS). The interaction between inflammation and clonal expansion defines disease progression, emphasizing the need for a comprehensive understanding of its pathogenesis and management.Areas covered: This review discusses the clinical spectrum, genetic landscape, and pathogenic mechanisms of VEXAS syndrome. The correlation between UBA1 mutations and disease severity is explored, alongside the role of clonal hematopoiesis and inflammatory pathways. Current treatments, including corticosteroids, immunosuppressants, JAK inhibitors, and azacitidine, are evaluated for efficacy and limitations. The potential of allogeneic hematopoietic stem cell transplantation (allo-HSCT) as a curative approach is also addressed. Literature search was conducted from January 2020 to present using PubMed and Scopus databases to identify relevant studies.Expert opinion: VEXAS syndrome reflects a complex interaction between autoinflammation and clonal hematopoiesis. While targeted therapies offer symptomatic control, responses remain variable. Future strategies should focus on genotype-driven, personalized treatments and optimizing allo-HSCT protocols to improve patient outcomes and offer disease-modifying potential.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"1-11"},"PeriodicalIF":2.3,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Benefits of primary prophylaxis with letermovir in patients after allogeneic hematopoietic stem cell transplantation for hematologic malignancies. 恶性血液病患者异体造血干细胞移植后初级预防使用莱替莫的益处。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2025-05-23 DOI: 10.1080/17474086.2025.2509876

Martyna Włodarczyk, Agata Wieczorkiewicz-Kabut, Anna Armatys, Anna Koclęga, Anna Kopińska, Izabela Noster, Krzysztof Woźniczka, Patrycja Zielińska, Grzegorz Helbig

{"title":"Benefits of primary prophylaxis with letermovir in patients after allogeneic hematopoietic stem cell transplantation for hematologic malignancies.","authors":"Martyna Włodarczyk, Agata Wieczorkiewicz-Kabut, Anna Armatys, Anna Koclęga, Anna Kopińska, Izabela Noster, Krzysztof Woźniczka, Patrycja Zielińska, Grzegorz Helbig","doi":"10.1080/17474086.2025.2509876","DOIUrl":"https://doi.org/10.1080/17474086.2025.2509876","url":null,"abstract":"Background: Introduction of letermovir (LMV) as prophylaxis for cytomegalovirus (CMV) infection has decreased the number of clinically significant CMV infections (cs-CMVi) in allogeneic hematopoietic stem cell transplantation (HSCT) recipients. However, long-term, real-world data on LMV's impact on post-transplant outcome remain scarce.Research design and methods: The aim of our study was to evaluate clinical outcome of 93 CMV-seropositive patients who received LMV prophylaxis and to compare them to 168 LMV-free recipients.Results: CMV reactivation was less frequently observed in LMV group if compared to LMV-free control. Twelve patients (17%) and 71 (42%) reactivated CMV in LMV-treated and LMV-free patients, respectively. The cumulative incidence of cs-CMVi was lower in LMV group compared to control [37% vs. 63%]. The incidence of severe acute graft-versus-host disease (aGVHD) was also lower in LMV-treated patients (6% vs. 21%). Overall survival, non-relapse mortality and progression-free survival at 24 months were comparable. No risk factors for post-transplant CMV reactivation were identified in LMV group, whereas unrelated donor, donor-negative/recipient-positive CMV-serostatus, and presence of severe aGVHD were associated with higher risk of CMV reactivation in LMV-free control.Conclusions: LMV as CMV primary prophylaxis has a beneficial effect on post HSCT outcome decreasing the incidence of severe aGVHD and cs-CMV reactivation.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"1-8"},"PeriodicalIF":2.3,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

PRDX6 knockdown sensitizes multiple myeloma cells to ferroptosis through inactivation of the PI3K/AKT pathway. PRDX6敲低通过PI3K/AKT通路失活使多发性骨髓瘤细胞对铁凋亡敏感。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2025-05-21 DOI: 10.1080/17474086.2025.2492881

Guifang Hu, Hongju Zhang, Yun Wang, Jingfeng Lu, Ke Dong, Wu Gao

{"title":"PRDX6 knockdown sensitizes multiple myeloma cells to ferroptosis through inactivation of the PI3K/AKT pathway.","authors":"Guifang Hu, Hongju Zhang, Yun Wang, Jingfeng Lu, Ke Dong, Wu Gao","doi":"10.1080/17474086.2025.2492881","DOIUrl":"10.1080/17474086.2025.2492881","url":null,"abstract":"Background: This study probes into the impact and mechanisms of PRDX6 on ferroptosis multiple myeloma (MM).Research design and methods: PRDX6 expression in MM cells were determined using Western blotting and qRT-PCR. MM cells were treated with pLKO-shPRDX6 vectors expressing PRDX6 shRNA alone or in combination with Erastin/ferrostatin-1 (ferroptosis activator/inhibitor) or 740Y-P (PI3K/AKT pathway activator). Cell viability, apoptosis, Fe2+ concentration, and ROS levels were examined using CCK-8, flow cytometric analysis, iron ion detection, and DCFH-DA assay, and ELISA. Malondialdehyde (MDA) and glutathione (GSH) levels were tested with ELISA, and SLC7A11 and GPX4 levels were measured with Western blotting.Results: PRDX6 expression was sharply increased in MM cells (p < 0.01). Silencing of PRDX6 sensitized MM cells to ferroptosis, as indicated by elevated Fe2+, ROS, and MDA levels but decreased GSH, SLC7A11, and GPX4 levels (p < 0.05), and these trends were neutralized by 740Y-P treatment. Furthermore, PRDX6 knockdown lowered the levels of PI3K/AKT pathway-associated molecules (p < 0.05).Conclusions: PRDX6 knockdown may exert pro-ferroptotic effects through inactivation of the PI3K/AKT pathway, underlying an appealing therapeutic target for MM.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"1-10"},"PeriodicalIF":2.3,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Real-world treatment patterns and outcomes in people with von Willebrand disease treated prophylactically with recombinant von Willebrand factor in the United States. 在美国用重组血管性血友病因子预防性治疗血管性血友病患者的现实世界治疗模式和结果

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2025-05-20 DOI: 10.1080/17474086.2025.2504956

Jonathan C Roberts, Maissaa Janbain, Jessica R Marden, Sanjana Sundaresan, Elyse Swallow, Natalia Nieto, Bethany Jones, Jorge Caicedo

{"title":"Real-world treatment patterns and outcomes in people with von Willebrand disease treated prophylactically with recombinant von Willebrand factor in the United States.","authors":"Jonathan C Roberts, Maissaa Janbain, Jessica R Marden, Sanjana Sundaresan, Elyse Swallow, Natalia Nieto, Bethany Jones, Jorge Caicedo","doi":"10.1080/17474086.2025.2504956","DOIUrl":"10.1080/17474086.2025.2504956","url":null,"abstract":"Background: People with von Willebrand disease (VWD) experience increased bleeding and decreased quality of life; those with a severe bleeding phenotype may benefit from prophylactic treatment. This retrospective chart review evaluated real-world effectiveness of prophylaxis with recombinant von Willebrand factor (rVWF) in all subtypes of VWD.Research design and methods: People aged ≥12 years with a confirmed VWD diagnosis from US health care centers who received either routine or intermittent (for menorrhagia) prophylactic rVWF treatment were included. Eligibility criteria included availability of medical records ≥ 6 months pre- (baseline period) and post-rVWF initiation (rVWF treatment period). Annualized bleed rate (ABR), healthcare resource utilization (HCRU), and treatment patterns were the main outcomes of interest and were compared between both periods.Results: Of 30 participants across 11 sites, 23 (76.7%) received routine rVWF prophylaxis for a mean duration of 2.9 years. Treatment is ongoing in most participants. ABR and total and bleed-related inpatient visits and number of surgeries decreased during the rVWF treatment period versus the baseline period.Conclusions: Participants receiving routine rVWF prophylaxis in this study experienced reduced ABR and HCRU versus the baseline period, indicating that rVWF prophylaxis may result in improved outcomes in people with VWD across all subtypes.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"1-14"},"PeriodicalIF":2.3,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

SYK identified by bioinformatics analysis promotes the proliferation of multiple myeloma. 生物信息学分析发现SYK促进多发性骨髓瘤的增殖。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2025-05-20 DOI: 10.1080/17474086.2025.2505724

Ju Deng, Peichun Li, Shuo Li, Fengting Liang, Minglin Hong, Ting Zhang, Yanhong Tan, Fanggang Ren, Yaofang Zhang, Zhifang Xu, Hongwei Wang

{"title":"SYK identified by bioinformatics analysis promotes the proliferation of multiple myeloma.","authors":"Ju Deng, Peichun Li, Shuo Li, Fengting Liang, Minglin Hong, Ting Zhang, Yanhong Tan, Fanggang Ren, Yaofang Zhang, Zhifang Xu, Hongwei Wang","doi":"10.1080/17474086.2025.2505724","DOIUrl":"10.1080/17474086.2025.2505724","url":null,"abstract":"Background: Despite recent advancements, the pathogenesis of multiple myeloma (MM) remains incompletely elucidated, with relapse and therapy resistance persisting as major clinical challenges, underscoring the imperative to identify novel therapeutic targets.Research design and methods: Differentially expressed genes were initially screened from the GSE6477 and GSE6691 datasets. Subsequent functional annotation and pathway enrichment analyses were conducted utilizing the DAVID bioinformatics platform. A protein-protein interaction network was constructed via the STRING database, followed by module analysis and hub genes identification through CytoHubba plugin. The biological significance of candidate genes was ultimately validated through ex vivo cellular functional assays and in vivo xenograft tumorigenesis experiments in murine models.Results: Bioinformatics analysis identified spleen tyrosine kinase (SYK) as the most prognostically significant candidate gene (p = 0.027). The SYK-specific inhibitor BAY61-3606 demonstrated time- (p < 0.05) and dose- (p < 0.01) dependent inhibition of MM cell viability, concomitant induction of G2/M phase cell cycle arrest (p < 0.001), and significant promotion of apoptosis (p < 0.05). In vivo experiments utilizing MM xenograft models demonstrated that BAY61-3606 administration significantly attenuated tumor growth kinetics (p < 0.05).Conclusions: Our findings establish SYK as a therapeutic target in MM, thereby facilitating the development of innovative treatment strategies.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"1-15"},"PeriodicalIF":2.3,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

In the `prophylaxis era´ people with hemophilia still need major orthopedic surgery. 在“预防时代”，血友病患者仍然需要进行大型骨科手术。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2025-05-18 DOI: 10.1080/17474086.2025.2508506

Emerito Carlos Rodriguez-Merchan

{"title":"In the `prophylaxis era´ people with hemophilia still need major orthopedic surgery.","authors":"Emerito Carlos Rodriguez-Merchan","doi":"10.1080/17474086.2025.2508506","DOIUrl":"10.1080/17474086.2025.2508506","url":null,"abstract":"Introduction: A non-negligible percentage of people with hemophilia (PWH) eventually develop hemophilic arthropathy in what we might call the 'prophylaxis era'.Areas covered: Due to hemophilic arthropathy, some of the patients suffering from it will eventually require major orthopedic surgery when conservative treatment has failed. The purpose of this article has been to analyze the articles published in PubMed during the period 2020-2025, in order to detect what type of major orthopedic surgery interventions are performed in PWH during the 'prophylaxis era'. On 22 April 202522 April 2025, using 'hemophilia orthopedic surgery' from 1 January 2020 to 22 April 2025 as keywords, 373 articles were found in PubMed. Of these, 50 were analyzed because they were directly related to the title of this article (inclusion criterion). The remaining 323 were excluded because they were not directly related to the title of this article.Expert opinion: Although great progress has been made in prophylaxis therapy in PWH, some patients still suffer from severe painful and disabling hemophilic arthropathy requiring major orthopedic surgery. This suggests that there is still much room for improvement in prophylaxis therapy in PWH. Multidisciplinary teams treating PWH should redouble their efforts to eliminate hemophilic arthropathy.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"1-7"},"PeriodicalIF":2.3,"publicationDate":"2025-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Is the early use of ketamine effective as an opioid sparing adjunct for treating pain in sickle cell disease patients? 早期使用氯胺酮作为阿片类药物保留辅助治疗镰状细胞病患者疼痛有效吗？

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2025-05-11 DOI: 10.1080/17474086.2025.2500605

Vineetha Reddy Nallagatla, Natasha M Archer

引用次数: 0

Treating sickle cell disease in resource-limited sub-Saharan Africa: recent strategies and recommendations in addressing the gaps for the provision of evidence-based management. 在资源有限的撒哈拉以南非洲治疗镰状细胞病：在提供循证管理方面弥补差距的最新战略和建议。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2025-05-11 DOI: 10.1080/17474086.2025.2500599

Miguel Brito, Catarina Ginete, Akinyemi Ofakunrin, Ijeoma Diaku-Akinwumi, Baba Psalm Duniya Inusa

{"title":"Treating sickle cell disease in resource-limited sub-Saharan Africa: recent strategies and recommendations in addressing the gaps for the provision of evidence-based management.","authors":"Miguel Brito, Catarina Ginete, Akinyemi Ofakunrin, Ijeoma Diaku-Akinwumi, Baba Psalm Duniya Inusa","doi":"10.1080/17474086.2025.2500599","DOIUrl":"https://doi.org/10.1080/17474086.2025.2500599","url":null,"abstract":"Introduction: The management of Sickle cell disease (SCD) in sub-Saharan Africa (SSA) suffers from the lack of universal infant and population screening, inadequate access to standard treatment and poor public health prioritization amidst unstable political systems.Areas covered: The state of evidencebased management of SCD in SSA was investigated including sustainability of international funding agencies.Expert opinion: Current efforts are fragmentary along languages lines; sometimes driven by the funder's objectives and not the national agenda. The review highlighted the role of internal and external partnerships such as SPARCO, ARISE, CONSA, as well as technology-based support for the implementation of evidence-based care for SCD. We advocate for increased funding to implement SCD comprehensive care in line with the WHO SCD Framework for Primary, Secondary, Tertiary and Specialist Comprehensive Care at state and national level. To achieve this objective, it is important that SCD, as a leading non-communicable disease in Africa, be mandated as a standing agenda for the National Council of Ministers at the African Union, WHO and other regional bodies in Africa.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"1-16"},"PeriodicalIF":2.3,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

To enhance the detection of aplastic anemia in primary care settings: a population-based study in Italy. 加强在初级保健机构再生障碍性贫血的检测：在意大利的一项基于人群的研究。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2025-05-10 DOI: 10.1080/17474086.2025.2500604

Francesco Lapi, Ettore Marconi, Iacopo Cricelli, Adriana Masotti, Alessandro Rossi, Claudio Cricelli

{"title":"To enhance the detection of aplastic anemia in primary care settings: a population-based study in Italy.","authors":"Francesco Lapi, Ettore Marconi, Iacopo Cricelli, Adriana Masotti, Alessandro Rossi, Claudio Cricelli","doi":"10.1080/17474086.2025.2500604","DOIUrl":"https://doi.org/10.1080/17474086.2025.2500604","url":null,"abstract":"Background: Aplastic Anemia (AA) is a rare, life-threatening condition featured by hypocellular bone marrow without leukemia or myelodysplastic syndromes. Early diagnosis is vital because of the effectiveness of the existing treatments. This study examined AA epidemiology and clinical correlates to aid general practitioners (GPs) in recognizing potential AA cases.Research design and methods: The Italian Health Search database (HSD) was used. A cohort study on individuals aged 18 years and older registered in the HSD between 1 January 1998, and 31 December 2022, estimated the prevalence and incidence rate of AA. Cases were operationally classified as 'certain,' 'probable,' and 'possible.' A case-control study was conducted to examine the clinical correlates of AA.Results: The cumulative prevalence was 3.8-4.8 per 100,000. The AA incidence rates for certain, certain/probable, and certain/probable/possible diagnoses were 0.3, 0.7, and 6 cases/million person-years, respectively. Increased infections (OR = 2.5), higher comorbidity burden (Charlson Index 1: OR = 2.14; 2+: OR = 2.43), and immunosuppressants use (OR = 14.9) were strongly associated with an AA diagnosis.Conclusions: Our findings indicate that AA is often underdiagnosed in primary care, but these data could help raise the suspicion of AA. Efforts are needed to utilize GPs' healthcare records for early AA identification and to enhance GP-hematologist collaboration.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"1-7"},"PeriodicalIF":2.3,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Kompetitive allele specific PCR (KASP) based genotyping of sickle gene in the selected sub-ethnic tribal population of Gujarat and Madhya Pradesh. 基于竞争等位基因特异性PCR （KASP）的古吉拉特邦和中央邦亚民族部落人群镰刀基因分型研究

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2025-05-08 DOI: 10.1080/17474086.2025.2499530

Urvi Budhbhatti, Bhumika Prajapati, Bhagirath Dave, Aman Tripathi, Chaitanya Joshi, Madhvi Joshi

{"title":"Kompetitive allele specific PCR (KASP) based genotyping of sickle gene in the selected sub-ethnic tribal population of Gujarat and Madhya Pradesh.","authors":"Urvi Budhbhatti, Bhumika Prajapati, Bhagirath Dave, Aman Tripathi, Chaitanya Joshi, Madhvi Joshi","doi":"10.1080/17474086.2025.2499530","DOIUrl":"https://doi.org/10.1080/17474086.2025.2499530","url":null,"abstract":"Background: Indian tribal population is more vulnerable to sickle cell disease (SCD), an autosomal recessive disease caused by a single A>T transversion mutation in the HBB gene. Current study aims to develop a novel Kompetitive allele specific PCR (KASP) assay for genotyping of sickle gene in selected tribal communities of India.Patients and methods: The study was conducted from 2021 to 2023 involving 583 self-declared healthy individuals from four tribal communities, i.e. Korku, Kol, and Sahariya of Madhya Pradesh and Dongri bhil of Gujarat. The sickle cell genotyping was performed using KASP and PCR-RFLP methods and further validated by Sanger sequencing. Various hematological and biochemical parameters were also studied and compared for their association with identified genotypes.Results: Prevalence of sickle cell trait (SCT) was observed as 4.67%, 9.33%, and 16.41% in Kol, Korku, and Dongri bhil, respectively. The SCD prevalence of 0.7% was observed in Dongri bhil. The KASP assay reflects as a novel, high-throughput, and cost-effective method for effective screening. RBC, folic acid, fetal Hb (HBF), and bilirubin have shown significant association with sickle gene mutation.Conclusions: KASP assay offers a rapid, precise, and cost-effective method for screening in tribal populations, which can help in early identification, management, and elimination of disease.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"1-9"},"PeriodicalIF":2.3,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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