Hematology最新文献

{"title":"CIRC_0000075 targeting MIR-218-5P is involved in the prognosis and mechanism of acute myeloid leukemia.","authors":"Anni Xu, Ling Wang, Yuan Li, Li Liu, Changyu Tian","doi":"10.1080/16078454.2025.2609465","DOIUrl":"10.1080/16078454.2025.2609465","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate to investigate the role of circ_0000075 levels and its regulatory mechanism in patients with acute myeloid leukemia (AML).</p><p><strong>Methods: </strong>A total of 115 patients with AML and 60 patients with non-haematological tumors (control group) were included. Bone marrow fluid was collected, and the patients were followed-up for a 5-year postoperative prognosis. RT-qPCR was used to detect the expression of circ_0000075 and miR-218-5p, Kaplan-Meier curves recorded for prognostic survival, and multivariate Cox regression analysis to assess factors affecting patient mortality. Cell proliferation was assessed using the Cell Counting Kit-8 (CCK-8), and Transwell assays were performed to study cell migration and invasion. A dual-luciferase reporter assay verified the interaction between the interaction between circ_0000075 and miR-218-5p.</p><p><strong>Results: </strong>High levels of circ_0000075 were present in AML patients and correlated with their pathological features. AML patients with high circ_0000075 expression had lower survival rates, and circ_0000075 was predicted to be a risk factor for poor prognosis in AML patients. circ_0000075 levels were elevated in AML cells compared to normal cells, and silencing circ_0000075 attenuated cancer cell proliferation, migration, and invasion. miR-218-5p has abundant circ_0000075 binding sites, and its expression is markedly suppressed in cancer tissues. A dual-luciferase reporter assay demonstrated a targeting relationship between circ_0000075 and miR-218-5p. Response experiments suggested that the use of miRNA inhibitors promoted AML cell function.</p><p><strong>Conclusion: </strong>circ_0000075 is a risk factor for poor prognosis in AML patients. Silenced circ_0000075 blocks the function of tumor cells mainly by promoting miR-218-5p expression.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"31 1","pages":"2609465"},"PeriodicalIF":2.0,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145933084","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}

{"title":"Molecular and clinical characterization of -α^4.2 subtypes in Shenzhen, Southern China.","authors":"Lijuan Wang, Yaqin Song, Hui Gao, Di Ma, Rui Nie, Hui Guo","doi":"10.1080/16078454.2026.2613496","DOIUrl":"10.1080/16078454.2026.2613496","url":null,"abstract":"<p><strong>Objectives: </strong>The 4.2-kb deletion (-α^4.2) is a common cause of α-thalassemia in southern China. However, the molecular characteristics and clinical phenotypes of its subtypes remain incompletely characterized. This study aims to investigate these knowledge gaps for -α^4.2 subtypes, explore their formation mechanisms, and determine their association with <i>HBA1</i>:c.223G>C (p.Asp75His; Hb Q-Thailand).</p><p><strong>Methods: </strong>We retrospectively analyzed α-thalassemia testing data from 18,050 individuals, identifying 112 -α^4.2 carriers previously characterized by Multiplex Ligation-dependent Probe Amplification (MLPA). Those MLPA data were used for subtyping. Sanger sequencing detected <i>HBA1</i>:c.223G>C and deletion breakpoints. Bioinformatics analyzed subtype distinctions. Associated hematological parameters were evaluated for clinical significance.</p><p><strong>Results: </strong>MLPA subtyped 98.2% (110/112) carriers: 88.2% (97/110) as -α^4.2 (C) and 11.8% (13/110) as -α^4.2 (B). <i>HBA1</i>:c.223G>C displayed strong linkage with -α^4.2 (B) [11/13 cases; termed -α^4.2-Q (B)], but not with -α^4.2 (C). Notably, we recognized two novel -α^4.2 (B) cases lacking this mutation [-α^{4.2-without Q association} (B)], representing the first report of such variants. Breakpoint analyses showed distinct structural features: -α^4.2 (C) has an A-rich sequence with single-stranded characteristics, while -α^4.2 (B) predictedly forms complex stable secondary structures. Hematological analysis showed that -α^4.2-Q (B) exhibited the characteristic Hb Q-Thailand pattern, while -α^{4.2-without Q association} (B) had parameters similar to -α^4.2 (C).</p><p><strong>Conclusion: </strong>Based on this systematic analysis, we proposed a dual-mechanism hypothesis ('functional trigger + linkage maintenance') to explain the Hb Q-Thailand/-α^4.2 (B) association. Hematological findings were consistent. These results deepen our understanding of the molecular and clinical characteristics of -α^4.2 subtypes, helping clinicians provide more precise counseling.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"31 1","pages":"2613496"},"PeriodicalIF":2.0,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145951883","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}

{"title":"Transfusion-transmitted infections among blood donors in Saudi Arabia: demographic and malaria risk differences by donation purpose.","authors":"Abdulrahman Alshalani, Lama Alzamil, Abdulrahman Alrezaihi, Jawaher Alsughayyir, Naif I Bin Muhannaa, Fahad S Alshehri, Abdulaziz M Almuqrin","doi":"10.1080/16078454.2026.2637345","DOIUrl":"10.1080/16078454.2026.2637345","url":null,"abstract":"<p><strong>Background and objectives: </strong>Blood transfusion is a vital medical procedure, yet it carries the risk of transmitting infectious diseases. This study aimed to assess the demographic characteristics and transfusion-transmitted infection (TTI) profiles of family replacement and voluntary blood donors in Saudi Arabia.</p><p><strong>Materials and methods: </strong>A retrospective cross-sectional analysis was conducted using records from 49,590 blood donors at King Fahad Medical City, Riyadh, Saudi Arabia. Donors were classified as family replacement or voluntary. Demographic information and results of screening for hepatitis B virus (HBV), hepatitis C virus (HCV), human immunodeficiency virus (HIV), syphilis, and malaria were analysed. Statistical analyses included descriptive statistics, chi-square testing, stratified analysis by nationality, and logistic regression.</p><p><strong>Results: </strong>49,590 donors were included, 10.6% were family replacement and 89.4% were voluntary. Males accounted for 92.6% of the donor population. No significant differences were observed between the two groups for HBV, HCV, HIV, or syphilis. However, malaria prevalence was significantly higher among family replacement donors (5.3%) compared to voluntary donors (2.9%). Family replacement donation was more common among younger donors, males, and non-Saudi nationals.‏ The higher malaria prevalence among family replacement donors was particularly evident among non-Saudi donors, and regression analysis confirmed that nationality modified the association between donation type and malaria positivity.</p><p><strong>Conclusion: </strong>While rates of major viral TTIs were comparable between donor types, malaria risk was significantly higher among family replacement donors, especially among non-Saudi donors. These findings highlight the importance of continued malaria screening and donor selection strategies to maintain safe blood transfusion practices in Saudi Arabia.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"31 1","pages":"2637345"},"PeriodicalIF":2.0,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147498343","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}

{"title":"Clinical characteristics and whole exome sequencing in <i>JAK2</i>V617F- and <i>CALR</i>-unmutated essential thrombocythemia.","authors":"Siraphop Thammayot, Patcharawadee Thongkumkoon, Jeerawan Klangjorhor, Noppamas Panyasit, Piangrawee Niprapan, Nonthakorn Hantrakun, Teerachat Punnachet, Pokpong Piriyakhuntorn, Thanawat Rattanathammethee, Sasinee Hantrakool, Adisak Tantiworawit, Lalita Norasetthada, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong","doi":"10.1080/16078454.2026.2616933","DOIUrl":"10.1080/16078454.2026.2616933","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study was to characterize the clinical features and outcomes of patients with <i>JAK2</i> V617F<i>-</i> and <i>CALR</i>-unmutated essential thrombocythemia (ET) and to identify potential driver mutations through whole-exome sequencing (WES).</p><p><strong>Methods: </strong>This was a cross-sectional study including patients diagnosed with ET between 2007 and 2024. Clinical characteristics and outcomes were compared between patients with and without <i>JAK2</i>V617F and <i>CALR</i> mutations. WES was analyzed in <i>JAK2</i>V617F<i>-</i> and <i>CALR</i>-unmutated ET patients.</p><p><strong>Results: </strong>Thirty-nine out of 162 ET patients (24%) were <i>JAK2</i>V617F- and <i>CALR</i>-unmutated. This group was younger than patients in the <i>JAK2</i>V617F mutated group (mean age 53.7 vs. 61.1 years, <i>p</i> = 0.012) and had lower incidence of thrombotic events (5.1% vs. 9.1%, <i>p</i> = 0.327). The median overall survival was 13.51 years compared to 12.61 years in patients with <i>JAK2</i>V617F or <i>CALR</i> mutations (<i>p</i> = 0.63). There were no statistically significant differences in clinical symptoms, incidence of thrombosis, bleeding, myelofibrosis, or leukemic transformation. WES was analyzed in 15 patients. Uncommon <i>MPL</i> mutations were identified, including <i>MPL</i>L265F, <i>MPL</i>P70L, and <i>MPL</i>R321Q. Potential novel <i>CALR</i> mutations were detected in exon 5 (c.540C > T, N180 = ) and exon 6 (c.703-3del). Non-driver gene mutations were detected, including <i>RUNX1</i> (57.1%)<i>, ASXL1</i>, <i>DNMT3A, SETBP1,</i> and <i>MSH6</i>.</p><p><strong>Discussion and conclusions: </strong>Patients with <i>JAK2</i>V617F- and <i>CALR</i>-unmutated ET tend to present at a younger age and exhibit a lower incidence of thrombosis compared to those with <i>JAK2</i>V617F-mutated ET. The application of WES enabled the detection of uncommon and potential driver mutations in <i>JAK2</i>V617F- and <i>CALR</i>-unmutated ET.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"31 1","pages":"2616933"},"PeriodicalIF":2.0,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146018331","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}

{"title":"Factors influencing anticoagulation control of patients on warfarin therapy at Windhoek Central Hospital's Warfarin Clinic.","authors":"Moses Mukwipure Thikukutu, Lauren Jenifer Jonkman, Bonifasius Siyuka Singu, Mwangana Mubita, Roger Karel Verbeeck","doi":"10.1080/16078454.2026.2617678","DOIUrl":"10.1080/16078454.2026.2617678","url":null,"abstract":"<p><p><b>Background:</b> Thrombotic diseases are a global challenge. Warfarin remains the anticoagulant of choice in low- and middle-income countries. In 2017, a study reported suboptimal anticoagulation control of 29.4%, compared to the target of ≥ 65%, in patients who attended the Windhoek Central Hospital's warfarin clinic. <b>Objective:</b> Factors contributing to the suboptimal anticoagulation control had to be explored. <b>Methods:</b> To achieve this, 72 patients from the interventional cohort at the clinic were interviewed. <b>Results:</b> The majority (39%) of respondents had dosage-related factors, followed by 21% with diet-related factors, 19% reported factors associated with social determinants of health, and the least (5.6%) due to drug interactions in patients with a co-diagnosis of tuberculosis. <b>Conclusion:</b> The study highlighted the need for improved healthcare system support, such as equipping non-physician health cadres (pharmacists and nurses) with the ability to prescribe warfarin therapy and roll out point-of-care testing for patients with limited access to primary healthcare settings, improving access to medication at the primary healthcare facilities, and patient education to improve warfarin therapy outcomes.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"31 1","pages":"2617678"},"PeriodicalIF":2.0,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146010129","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}

{"title":"Switching patients with PNH from pegcetacoplan to iptacopan: a case series.","authors":"Mark Orland, Carmelo Gurnari, Srinivasa Sanikommu, Jaroslaw Maciejewski, David Dingli","doi":"10.1080/16078454.2026.2618403","DOIUrl":"10.1080/16078454.2026.2618403","url":null,"abstract":"<p><strong>Objectives: </strong>Limited published data exist on switching therapy from pegcetacoplan to iptacopan in patients with paroxysmal nocturnal hemoglobinuria (PNH).</p><p><strong>Methods: </strong>Three patient cases were collected from the Mayo Clinic, Cleveland Clinic, and Levine Cancer Institute.</p><p><strong>Results: </strong>Patient 1 is a 57-year-old woman with PNH. She experienced extravascular hemolysis (EVH) while on C5 inhibitors and breakthrough hemolysis (BTH) after switching to pegcetacoplan. Patient 2 is a 37-year-old woman seeking care for PNH, who was initiated on C5 inhibitor therapy and switched to pegcetacoplan. EVH and BTH were observed while she was on C5 inhibitor therapy, and transfusions were required with both C5 inhibitor and pegcetacoplan therapy. Patient 3 is a 58-year-old man with aplastic anemia and PNH who was initiated on C5 inhibitor therapy, then switched to pegcetacoplan. He experienced both EVH and BTH.</p><p><strong>Discussion: </strong>All three patients switched from pegcetacoplan to iptacopan, and none experienced EVH or BTH while on iptacopan. After switching to iptacopan, all three patients improved hemoglobin levels and abating transfusion requirements.</p><p><strong>Conclusion: </strong>In this case series, three patients with PNH were successfully transitioned from pegcetacoplan to iptacopan monotherapy. No patients exhibited laboratory evidence of BTH, EVH, or intravascular hemolysis after switching to iptacopan.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"31 1","pages":"2618403"},"PeriodicalIF":2.0,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146142326","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}

{"title":"The efficacy and safety of CAR-T therapy in relapsed or refractory multiple myeloma patients: a systematic review and meta-analysis.","authors":"Yiwei Zhou, Xueqi Xie, Kai Feng, Weijie Cao, Danfeng Zhang","doi":"10.1080/16078454.2026.2613505","DOIUrl":"10.1080/16078454.2026.2613505","url":null,"abstract":"<p><p><b>Objectives:</b> The introduction of novel therapies has markedly improved the prognosis of multiple myeloma (MM), yet relapse remains common. For patients with relapsed or refractory multiple myeloma (RRMM), immunotherapy - particularly chimeric antigen receptor T-cell (CAR-T) therapy - shows significant promise. This review summarizes current evidence on CAR-T efficacy and safety.<b>Methods:</b> We performed a systematic review of studies published between 1 January 2021 and 1 August 2024 in PubMed, Web of Science, and Embase. Of 4,301 articles identified, 29 met inclusion criteria.<b>Results:</b> Our findings demonstrate that CAR-T therapy is highly effective in the treatment of RRMM, with an overall response rate (ORR) of 86%. Among responders, the minimal residual disease (MRD) negativity rate was 78%. The median progression-free survival (mPFS) was 9.88 months, and the median duration of response (mDOR) was 12.17 months. In terms of safety, cytokine release syndrome (CRS) occurred in 83% of patients (any grade), with 5% experiencing grade ≥3 CRS. The incidence of grade ≥3 neurotoxicity (NT) was 2%. Infections were reported in 50% of patients (any grade), with 21% experiencing grade ≥3 infections.<b>Conclusion:</b> This meta-analysis provides robust evidence supporting the clinical application of CAR-T therapy in the management of relapsed or refractory multiple myeloma.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"31 1","pages":"2613505"},"PeriodicalIF":1.6,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145933094","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}

{"title":"Correlation between epigenetic modifier gene mutations and prognosis of patients with acute lymphoblastic leukemia: a systematic review and meta-analysis.","authors":"Rui-Qi Wang, Bing Han, Hai-Yu Song, Li Yu","doi":"10.1080/16078454.2025.2603059","DOIUrl":"10.1080/16078454.2025.2603059","url":null,"abstract":"<p><p>The impact of epigenetic modifier gene mutations (EMMs) on the prognosis of patients with acute lymphoblastic leukemia (ALL) is controversial, which is unlike AML. A meta-analysis is needed to evaluate the prognostic value of EMMs in ALL.</p><p><p>Three databases, including PubMed, EMBase and Web of Science, were retrieved to find out studies exploring the association of EMMs and survival outcomes in ALL. Pooled hazard ratios (HRs) and 95% confidential interval (95%CI) were used to assess the impact of EMMs.</p><p><p>Nineteen studies were included in our meta-analysis. <i>DNMT3A</i> mutation was an adverse prognostic factor in overall survival (OS) in patients with ALL (HR, 4.143; <i>P</i> <i><</i> 0.001) as well as adult T-ALL patients (HR, 3.746; <i>P</i> <i><</i> 0.001) and those with early T-ALL (HR, 3.523; <i>P</i> <i>=</i> 0.001). <i>IDH</i> mutation also had an unfavorable impact on OS in ALL (HR, 3.583; <i>P</i> <i><</i> 0.001) and adult T-ALL cohort (HR, 3.562; <i>P</i> <i><</i> 0.001). For pediatric patients, mutant <i>PHF6</i> was significantly associated with worse OS in both B-ALL (HR, 3.194; <i>P</i> = 0.026) and T-ALL (HR, 2.125; <i>P</i> = 0.033), while <i>PHF6</i> mutation had no prognostic impact on the survival of adult T-ALL patients. In addition, patients with <i>KMT2A</i> mutation had shorter OS compared to those with wild type (HR, 4.605; <i>P</i> = 0.045), whereas other EMMs had no impact on prognosis in any type of ALL.</p><p><p>Mutations in <i>DNMT3A</i>, <i>IDH</i>, <i>PHF6</i> and <i>KMT2A</i> showed a significant prognostic effect in ALL or in its specific subtypes, which might contribute to risk stratification and treatment guidance in the management of ALL patients.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"31 1","pages":"2603059"},"PeriodicalIF":1.6,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145793751","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}

{"title":"Application of single nucleotide polymorphism array (SNP array) derived median copy number state for monitoring the clonal burden of the chromosomal aberrations in myelodysplastic neoplasms.","authors":"Lili Song, Zhenxiu Guo, Kun Chi","doi":"10.1080/16078454.2025.2610132","DOIUrl":"10.1080/16078454.2025.2610132","url":null,"abstract":"<p><strong>Objectives: </strong>Our study integrates SNP array and metaphase cytogenetics (MC) to decode clonal architecture in myelodysplastic syndromes (MDS) and related disorders.</p><p><strong>Methods: </strong>We retrospectively analyzed chromosomal aberrations in 33 patients diagnosed with MDS and related disorders by both SNP array and MC, of whom ten were detected with chromosomal copy number variations (CNVs) by MC. SNP array was used to quantify the clonal burden of CNVs using the metric median copy number state.</p><p><strong>Results: </strong>We found that SNP array-derived median copy number state was associated with the abnormal/total ratio by MC, implying the utility of the SNP array derived indicator for detecting the clonal burden of chromosomal CNVs in MDS and related disorders. In our cohort, patients with isolated trisomy 8 clones showed relatively low clonal burden and more stable outcomes compared with those having trisomy 8 in complex karyotypes, whereas +1/1q + clones, even as sole lesions, were associated with aggressive progression. The higher clonal burden of trisomy 8 (elevated median copy number deviations compared to other lesions) was found in patients with complex karyotypes and poor prognosis, which further supported the staged evolution theory and provided a new perspective for studying the development of chromosomal abnormalities in myelodysplastic neoplasms.</p><p><strong>Conclusion: </strong>The SNP array may serve as a novel tool for precision disease management, enabling early identification of high-risk clones and refinement of prognostic assessment in myelodysplastic neoplasms.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"31 1","pages":"2610132"},"PeriodicalIF":1.6,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145889162","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}

{"title":"Effect of autoimmune diseases on aplastic anemia: a bidirectional two-sample Mendelian randomization study.","authors":"Qiuni Chen, Chuanyang Lu, Chunling Wang, Liang Yu","doi":"10.1080/16078454.2026.2617680","DOIUrl":"10.1080/16078454.2026.2617680","url":null,"abstract":"<p><strong>Objectives: </strong>Numerous observational research avenues have identified a possible correlation between aplastic anemia and autoimmune diseases, rooted in analogous dysfunctional immune responses. Nevertheless, causal link between autoimmune diseases and aplastic anemia remains elusive. The study aims to investigate the causal association of autoimmune diseases and aplastic anemia.</p><p><strong>Methods: </strong>This study leveraged summary data from genome-wide association studies pertaining to six prevalent autoimmune diseases: ulcerative colitis, Crohn's disease, systemic lupus erythematosus, rheumatoid arthritis, celiac disease, and type 1 diabetes mellitus, procured from expansive, public genome-wide association studies meta-analysis databases. Aplastic anemia - related genetic information was extracted from the UK Biobank. Utilizing single nucleotide polymorphisms as genetic instruments - meeting criteria <i>P</i> < 5 × 10^-8 and linkage disequilibrium [LD] r² < 0.001 - the study employed Cochran's Q test, the MR-Egger intercept test, and leave-one-out analysis to gauge the sensitivity concerning the impact of autoimmune diseases on aplastic anemia.</p><p><strong>Results: </strong>The findings underscore a definitive causal relationship between systemic lupus erythematosus and aplastic anemia, as evidenced by the statistics (OR_IVW = 1.193, 95% CI 1.013-1.404, <i>P</i> = 0.035). Duplicate SLE GWAS from the FinnGen database demonstrated that patients with SLE are more susceptible to AA (OR_IVW = 1.193, 95% CI 1.013-1.404, <i>P</i> = 0.035). Additionally, the Mendelian randomization analysis reported no evidence of horizontal or directional pleiotropy.</p><p><strong>Conclusions: </strong>In summary, the study suggests that systemic lupus erythematosus could serve as a potential risk factor contributing to the onset of aplastic anemia. To substantiate this hypothesis, ensuing studies encompassing larger sample sizes are warranted.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"31 1","pages":"2617680"},"PeriodicalIF":2.0,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146029402","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}