Hemoglobin最新文献

{"title":"Precision Medicine in Sickle Cell Disease: From Molecular Pathways to Curative Strategies.","authors":"Dina Tluli, Omar Tluli, Abdelrahman A Karen, Mahd M Abujbara, Omar Sorour, Alaa Abdelhamid, Dahab Ghith, Mohamed A Yassin","doi":"10.1080/03630269.2026.2725724","DOIUrl":"https://doi.org/10.1080/03630269.2026.2725724","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a monogenic β-globin disorder characterized by hemoglobin S polymerization, hemolysis, and vaso-occlusion, yet it exhibits remarkable clinical heterogeneity. Despite advances in supportive care and disease-modifying therapies, substantial variability in severity, treatment response, and long-term outcomes persists. Therefore, this review aims to examine the biological and clinical foundations of precision medicine in SCD, emphasizing genomic modifiers, molecular pathways, and phenotype-driven therapeutic strategies. Key pathogenic pathways including hemoglobin polymerization, vascular adhesion, and inflammatory and oxidative amplification have enabled the development of targeted agents such as hydroxyurea, voxelotor, crizanlizumab, and L-glutamine, each demonstrating domain-specific targets. Pharmacogenomic insights, particularly involving fetal hemoglobin regulatory loci (e.g. <i>BCL11A</i> and <i>HBS1L-MYB</i>), further elucidate variability in disease expression and therapeutic response. Emerging curative approaches, including allogeneic hematopoietic stem cell transplantation, lentiviral gene addition, and CRISPR-Cas9-mediated genome editing, represent transformative applications of precision hematology. Collectively, these advances support a paradigm shift from generalized symptom management toward biologically informed, individualized care. Continued integration of genomic profiling, biomarker stratification, and equitable implementation frameworks will be essential to translate precision strategies into sustainable improvements in global SCD outcomes.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-17"},"PeriodicalIF":1.0,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149181511","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":"Endocrine Complications in Patients with Congenital Dyserythropoietic Anemia: A Single-Center Cohort Study.","authors":"Gamze Gursoy, Uğur Ünlütürk, Erdem Karabulut, Sule Unal","doi":"10.1080/03630269.2026.2729185","DOIUrl":"https://doi.org/10.1080/03630269.2026.2729185","url":null,"abstract":"<p><p>Congenital dyserythropoietic anemia (CDA) is a rare hereditary disorder marked by ineffective erythropoiesis and iron overload. Data on endocrine involvement in CDA remain limited. This study aimed to evaluate endocrine complications in patients with CDA and to assess their association with clinical and laboratory parameters. We retrospectively analyzed data from 12 patients with CDA (mean age 19.8 years; range: 6-49 years). Two patients were transfusion-dependent, and 10 were non-transfusion-dependent. We collected demographic, clinical, and laboratory data, including ferritin levels, and comprehensively assessed endocrine abnormalities. Endocrine abnormalities were identified in 9 of 12 patients (75%), for a total of 20 abnormalities. The most common findings were low bone mineral density, diabetes mellitus, subclinical hypothyroidism, and hyperprolactinemia. After excluding vitamin D deficiency, ferritin levels showed a significant positive correlation with the number of endocrine abnormalities (<i>p</i> = 0.015). No significant associations were observed between endocrine abnormalities and age, sex, or hemoglobin levels. Endocrine complications are common in CDA and are associated with iron overload, even in non-transfusion-dependent patients. Regular endocrine evaluation and careful monitoring of iron burden are essential for all patients with CDA.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-9"},"PeriodicalIF":1.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108781","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":"Metabolomic and Proteomic Profiling of Vaso-Occlusive Crises in Sickle Cell Disease: Current Evidence and Future Perspectives.","authors":"Moses Dabah Lugos, Darshna Yagnik, Grace Kuje Ogbor, Dapus Obadiah Damulak, Ajit Shah","doi":"10.1080/03630269.2026.2736312","DOIUrl":"https://doi.org/10.1080/03630269.2026.2736312","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is characterized by recurrent vaso-occlusive crises (VOCs), which are the primary contributors to morbidity and mortality globally. Conventional clinical markers, including fetal hemoglobin (HbF), reticulocyte count, and lactate dehydrogenase (LDH), offer limited predictive value because of interpatient variability and an inability to capture the complex, multifactorial pathophysiology of VOCs. Recent advances in metabolomics and proteomics have enhanced understanding of VOC biology. Metabolomic profiling has identified perturbations in glycolysis, amino acid metabolism, oxidative stress pathways, and lipid metabolism, while proteomic studies have revealed dysregulation of inflammatory mediators, adhesion molecules, coagulation factors, and endothelial markers. Although significant progress has been made, most reported metabolomic and proteomic signatures remain insufficiently reproducible and are not yet clinically applicable. This limitation is primarily attributed to biological heterogeneity, limited cohort sizes, and methodological inconsistencies across studies. Recent evidence indicates that pathway-level markers, longitudinal sampling strategies, and integrated multi-omics approaches are more likely to yield clinically relevant biomarkers than isolated single-molecule candidates. Significant challenges remain, including limited validation across diverse populations and barriers to implementation in resource-limited settings. Addressing these challenges will require collaborative, multicenter studies, improved analytical harmonization, and the development of accessible diagnostic platforms. This narrative review synthesizes current evidence on metabolomic and proteomic profiling of VOCs, highlights implications for equity and global health, and outlines priorities for translational research to advance personalized care and improve clinical outcomes in SCD.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-12"},"PeriodicalIF":1.0,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038304","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":"Evaluation of a Customized RDB-FTH Panel for β-Globin Variants in a Malaysian Tertiary Center.","authors":"Norunaluwar Jalil, Raja Zahratul Azma, Hafiza Alaudin, Azlin Ithnin, Hamidah Alias, Nor Rafeah Tumian, Rusilawaty Abdullah, Emida Mohamed, Nor Azian Abdul Murad, Othman Ainoon","doi":"10.1080/03630269.2026.2732039","DOIUrl":"https://doi.org/10.1080/03630269.2026.2732039","url":null,"abstract":"<p><p>β-Thalassemia is one of the most prevalent autosomal recessive genetic disorders in Malaysia, with an estimated prevalence of 4.5%, encompassing asymptomatic carriers, intermedia and transfusion-dependent β-thalassemia. Molecular diagnosis has become increasingly important to correlate phenotype to genotype, guiding management, and facilitating genetic counseling, particularly in the prenatal diagnostic setting. This study evaluated a rapid reversed dot-blot-based flow-through-hybridization (RDB-FTH) assay for the molecular detection for β-thalassemia and related variants. A total of 112 DNA samples from patients with β-thalassemia and other hemoglobinopathies were analyzed, comprising thalassemia trait (<i>n</i> = 74), HbE trait (<i>n</i> = 15), HbE/β-thalassemia (<i>n</i> = 10), compound heterozygous β-thalassemia (<i>n</i> = 6), homozygous HbE (<i>n</i> = 4), homozygous HbS (<i>n</i> = 2), and HbS trait (<i>n</i> = 1). Initial diagnoses were based on full blood count and hemoglobin analysis. Genomic DNA was subsequently analyzed using a customized RDB-FTH assay targeting 23 β-globin mutations and two β-globin deletions. The detected point mutations were confirmed by Sanger sequencing, while deletions were validated using multiplex gap-PCR. Reversed dot-blot-based flow-through-hybridization successfully genotyped all samples (100%). Out of the 224 alleles examined, 134 β-thalassemia alleles were identified, representing 14 mutations, two Hb-variant, and one β-globin deletion. The predominant mutation was Cd26(G > A) (24.6%), followed by IVS-I-5(G > C) (12.7%), Cd41/42(-TTCT) (11.9%), while the 45 kb-Filipino deletion accounted for 6.7%. The assay demonstrated 100% concordance in selected cases whose <i>HBB</i> genes were sequenced and had gap-PCR. Reversed dot-blot-based flow-through-hybridization is a rapid and accurate method for β-thalassemia molecular diagnosis, enabling simultaneous detection and genotyping of multiple mutations on a single membrane, thereby improving precision and efficiency in high workload diagnostic settings.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-9"},"PeriodicalIF":1.0,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149016634","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":"CRISPR-Based Mediated Reactivation of Fetal Hemoglobin as a Therapeutic Strategy for Hemoglobinopathies: Evidence from Preclinical to Clinical Trials in Sickle Cell Disease and β-Thalassemia.","authors":"Daniel Antonio Wong Castro, Amelie Camille Morocho Perugachi, Marco Orlando Fuel Herrera","doi":"10.1080/03630269.2026.2729189","DOIUrl":"https://doi.org/10.1080/03630269.2026.2729189","url":null,"abstract":"<p><p>β-Hemoglobinopathies, including sickle cell disease (SCD) and β-thalassemia, are inherited disorders caused by mutations in the β-globin gene (<i>HBB</i>), leading to defective production of adult hemoglobin (HbA), vaso-occlusive crises, and rapid destruction of erythrocytes as they leave the bone marrow, resulting in hemolytic anemia. In recent years, CRISPR-based genome-editing technologies have emerged as promising therapeutic strategies to reactivate fetal hemoglobin (HbF) expression by targeting key regulatory elements, including the <i>BCL11A</i> enhancer and the <i>HBG1/HBG2</i> promoters. This review aimed to synthesize available scientific evidence from PubMed, Scopus, Web of Science, and ClinicalTrials.gov on preclinical and clinical studies evaluating CRISPR-based genome-editing approaches for the treatment of SCD and β-thalassemia. This review was conducted and reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA 2020) Statement. A total of 247 records were identified; 20 studies met the inclusion criteria and were included in the qualitative synthesis. The included studies investigated various CRISPR-based platforms, including nuclease-mediated editing and base-editing strategies, to reactivate HbF expression. The studies reported durable increases in HbF levels, with therapeutic effects persisting for up to 22 months after treatment. Clinically, these outcomes were associated with the elimination or marked reduction of vaso-occlusive crises in patients with SCD and with transfusion independence in patients with β-thalassemia. Overall, the available evidence suggests that CRISPR-based HbF reactivation is a promising therapeutic approach for β-hemoglobinopathies, although long-term efficacy and safety data remain necessary.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-10"},"PeriodicalIF":1.0,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148989830","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":"Genotype-Specific Hematologic Signatures Across α-Globin Defect Categories in α-Thalassemia.","authors":"Süheyl Uçucu","doi":"10.1080/03630269.2026.2730439","DOIUrl":"https://doi.org/10.1080/03630269.2026.2730439","url":null,"abstract":"<p><p>Alpha-thalassemia is a genetically and clinically heterogeneous hemoglobin disorder caused by deletions or mutations of the α-globin genes (<i>HBA1</i> and <i>HBA2</i>) on chromosome 16. We aimed to evaluate the hematologic impact of single- and multiple-α-globin gene deletions and to characterize genotype-related laboratory phenotypes in α-thalassemia carriers. This retrospective study included 599 individuals aged 18-64 years: 229 in the genotype-negative comparison group and 370 genetically confirmed α-thalassemia carriers with diverse mutation profiles. Participants were categorized into five groups by genotype: Group I, genotype-negative comparison group; Group II, carriers of the -^3.7kb deletion; Group III, carriers of the Constant Spring (CS) mutation; Group IV, carriers of the --^SEA deletion; and Group V, individuals with compound or more severe genotypes, including -α^3.7/-α^4.2, --^SEA, and HbH-related genotypes. Significant intergroup differences were observed in hematologic parameters. The -α^3.7 and Hb Constant Spring groups had relatively preserved MCV and MCH values compared with the --^SEA and compound/HbH-related groups. The --^SEA group showed a microcytic erythrocytosis pattern, whereas the compound/HbH-related group showed the most pronounced hematologic disturbance. In conclusion, distinct α-globin genotype groups and defect categories are associated with markedly different hematologic phenotypes. Although the molecular mechanisms underlying these differences remain incompletely understood, deletional burden and genotype complexity appear to have clinically meaningful effects on red cell indices. Integrating molecular genotyping with hematologic profiling may therefore improve diagnostic interpretation and genotype-phenotype assessment in α-thalassemia.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148976192","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":"Co-Heredity of (-α)20.5 Deletion and IVS I-1 G > A (<i>HBB</i>: C.92 + 1 G > A) Mutations in a Pediatric Patient: A Cause of Moderate Anemia Phenotype?","authors":"Süheyl Uçucu, Fatih M Azik","doi":"10.1080/03630269.2026.2723428","DOIUrl":"https://doi.org/10.1080/03630269.2026.2723428","url":null,"abstract":"<p><p>Alpha- and beta-thalassemia are inherited hemoglobinopathies caused by defects in the α- and β-globin genes, with carrier states typically showing mild or no clinical manifestations. However, co-inheritance of different globin gene defects may result in a more severe or atypical phenotype. Here, we report a unique case of co-inherited rare -α^20.5 deletion, associated with α-thalassemia carrier status, and the common IVS-I-1 G > A (<i>HBB</i>: c0.92 + 1G > A) splice-site mutation, associated with β⁰-thalassemia trait. To our knowledge, this combination has not been previously reported.</p><p><p>The proband, diagnosed at six months of age with α- and β-thalassemia carrier states, underwent MLPA for α-globin and Sanger sequencing for β-globin genes. Although both variants are pathogenic and typically cause mild microcytic erythrocytosis individually, their co-inheritance caused marked globin chain imbalance, resulting in moderate microcytic anemia and requiring red blood cell transfusion at six months.</p><p><p>During follow-up, a gradual improvement in hematologic parameters was observed, coinciding with a physiological decline in HbF levels, strengthened erythropoietic adaptation, and maturation of iron metabolism. By 15 months of age, hemoglobin, MCV, and MCH values had normalized. This clinical trajectory suggests that the simultaneous presence of α- and β-globin gene defects may exacerbate the phenotype during the neonatal period, but the imbalance may decrease as developmental adaptation progresses.This study represents the first reported case describing the phenotype associated with the co-inheritance of the -α^20.5 deletion and the IVS-I-1 G > A mutation, providing novel insight into the clinical consequences of this rare genetic combination. Therefore, larger cohort studies are warranted.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-5"},"PeriodicalIF":1.0,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148919735","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":"Uncovering the True Genotype: Unusually Severe Sickle Cell Disease in a Child with an Initial HbSC Diagnosis.","authors":"Keshagaye Alexander-Gabbadon, Lesley King, Felicea Gibson, Toshiba Channer-Wallen, Monika Asnani","doi":"10.1080/03630269.2026.2723431","DOIUrl":"https://doi.org/10.1080/03630269.2026.2723431","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is the most common genetic blood disorder worldwide. It encompasses a group of hemoglobinopathies caused by inheriting the sickle hemoglobin (HbS) gene, either in homozygous or heterozygous form. This results in variable clinical presentations and severity by genotype. HbSC is the most common compound heterozygous form and is generally mild, whereas HbSO-Arab, a rare hemoglobinopathy, is considered severe. Accurate diagnosis requires detection of HbS using at least two methods. This case describes an unusually severe course in a child initially diagnosed with HbSC but later confirmed to have HbSO-Arab.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-5"},"PeriodicalIF":1.0,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148919817","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":"Mapping the Management-to-Cure Transition in Thalassemia Research: Semantic Topic Modeling of 17,651 Publications Across Three Decades.","authors":"Qixian Huang","doi":"10.1080/03630269.2026.2729186","DOIUrl":"https://doi.org/10.1080/03630269.2026.2729186","url":null,"abstract":"<p><p>Thalassemia syndromes affect millions worldwide, with the highest prevalence in the Mediterranean basin, the Middle East, South Asia, and southern China. For decades, standard care relied on lifelong transfusion and iron chelation, a management paradigm that extended survival without offering a cure. The first curative option, allogeneic hematopoietic stem cell transplantation (HSCT), emerged in the early 1980s; the first gene-editing therapy, Casgevy, followed in 2023, marking the latest step in this trajectory. Yet the research landscape underlying the broader management-to-cure transition has not been systematically characterized. We applied BERTopic, a transformer-based semantic topic model, to 17,651 PubMed-indexed thalassemia abstracts spanning 1990-2026, tracking topic prevalence over 37 years and comparing trajectories across seven national research communities. The model independently identified a thematic structure that separated management-oriented research (iron chelation, cardiac monitoring, prenatal screening) from curative research (hematopoietic stem cell transplantation [HSCT], gene therapy); the crossover point occurred around 2020, three years before the first gene-editing approval. By 2025, curative topics accounted for 14% of publications, versus 9% for management topics. Country-level analysis revealed marked divergence: US research focused more heavily on gene therapy (10.0% vs. 4.1% in China), while Chinese research maintained a stronger HSCT focus (6.3% vs. 4.0% in the US). These findings chart the course of a major therapeutic transition and carry direct implications for research funding allocation, global strategies for equitable access to curative therapies, and computational literature surveillance to inform clinical guideline updates.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-10"},"PeriodicalIF":1.0,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148919734","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":"Ocular Complications Among Patients with Beta-Thalassaemia Major and Intermedia: A Comparative Study from Pakistan.","authors":"Amber Saeed, Farah Naheed, Saif Ullah, Asad Ullah, Fariha Taimur, Laiba Bashir, Tayyab Afghani","doi":"10.1080/03630269.2026.2729184","DOIUrl":"10.1080/03630269.2026.2729184","url":null,"abstract":"<p><p>Beta-thalassemia is associated with systemic complications from chronic anemia, iron overload, and long-term transfusion therapy, which may also affect ocular structures. This study aimed to compare the frequency and patterns of ocular complications between patients with β-thalassemia major and β-thalassemia intermedia. This comparative cross-sectional study included 30 patients (60 eyes) with β-thalassemia major or β-thalassemia intermedia, recruited via convenience nonprobability sampling. All participants underwent comprehensive optometric and ophthalmic evaluation, including assessments of visual acuity, intraocular pressure, stereopsis, tear break-up time, visual field testing, and slit-lamp examination of the anterior and posterior segments. Serum ferritin levels were also recorded, and statistical analysis was performed using SPSS version 21. The mean age of participants was 20.67 ± 7. 44 years, and 60% were female. Serum ferritin levels were significantly higher in patients with β-thalassemia major than in those with β-thalassemia intermedia (4056. 47 ± 2415. 28; <i>p</i> < 0. 001). Uncorrected visual acuity and superior visual field extent were significantly better in the intermedia group (0. 913 ± 0. 196 decimal and 52. 67 ± 7. 74 degrees, respectively; <i>p</i> < 0. 05). Tear break- up time was significantly longer in the major group (9. 87 ± 4. 25 seconds) than in the intermedia group (6. 27 ± 3. 91 seconds; <i>p</i> < 0. 005). Patients receiving chelation therapy for more than 5 years had significantly lower tear break-up time values (<i>p</i> = 0. 04). Lenticular abnormalities were observed in 10% of eyes in both groups, whereas vitreous condensations and peripheral fundus atrophic changes were more frequent in β-thalassemia intermedia. In conclusion, patients with β-thalassemia major have higher serum ferritin levels and poorer visual function, whereas certain posterior segment changes appear more prevalent in β-thalassemia intermedia. These findings highlight the importance of regular ophthalmic screening in patients with thalassemia.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-11"},"PeriodicalIF":1.0,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148919796","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}