Hemoglobin最新文献

{"title":"SickleInAfrica Consortium: A Seven-Country Study Evaluating the Performance of Dried Blood Spot Point-of-Care Testing in Newborn Screening for Sickle Cell Disease.","authors":"Obiageli Eunice Nnodu, Wilson Mupfururirwa, Sarah Kiguli, Lulu Chirande, Boubacar Ali Toure, Fred Stephen Sarfo, Patience Kuona, Aldiouma Guindo, Andrew Louden, Arthemon Nguweneza, Emmanuel Balandya, Catherine Chunda-Liyoka, Victoria Nembaware, Chandré Oosterwyk, Mario Jonas, Jack Morrice, Andre Pascal Kengne, Siana Nkya, Upendo Masamu, Julie Makani, Patrick Ohiani Moru, Abdulmalik Koya, Heriud Martin, Lawson Chikara, Evans Xorse Amuzu, Natasha Mupeta Kaweme, Mary Nakibirango, Chinwe Okeke, Maxwell Nwegbu, Yaa Oppong-Mensah, Deogratias Munube, Reuben Ikechukwu Chianumba, Anazoeze Madu, Ruth Namazzi, Gwendoline Kandawasvika, Nesla Mahenge, Bruno Mmbando, Agnes Jonathan, Josephine Mgaya, Janeth Manongi, Irene Minja, Emmanuel Peprah, Ambroise Wonkam","doi":"10.1080/03630269.2026.2630709","DOIUrl":"10.1080/03630269.2026.2630709","url":null,"abstract":"<p><p>Sickle cell disease (SCD) remains a major public health concern in sub-Saharan Africa (SSA), where approximately 200,000 newborns are affected annually. Without early diagnosis and access to care, up to 50% of these children may die before the age of five. Although newborn screening (NBS) programs have proven effective in improving survival, their implementation across Africa is constrained by logistical barriers associated with standard diagnostic methods such as isoelectric focusing (IEF), high-performance liquid chromatography (HPLC), and cellulose acetate electrophoresis. Dried blood spot point-of-care testing (DBS-POCT) offers a potentially scalable alternative due to its stability, simplicity, and suitability for centralized analysis. We evaluated the diagnostic accuracy of DBS-POCT using the HemoTypeSC test compared to both standard POCT and reference laboratory testing across 705 newborns (0-3 months old) in seven countries within the SickleInAfrica Consortium. DBS-POCT demonstrated high sensitivity and specificity for detecting HbAA and HbAS, moderate sensitivity for HbSS, and lower sensitivity for HbAC, with some variability across countries. In several countries, DBS-POCT outperformed standard POCT, particularly in detecting SCD subtypes. Our findings support the utility of DBS-POCT for expanding newborn screening programs in resource-limited settings.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"50 2","pages":"111-120"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13101935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147645153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"First Case of Hb City of Hope (<i>HBB</i>: c.208G > A) in Andalusia. A Molecular Update of β-Thalassemia in Southwestern Spain (Huelva Province).","authors":"Candela L Hernández, Sergio Aguado, Luis J Sánchez-Martínez, Juan N Rodríguez, Antonio Palma, Paloma Ropero, Rosario Calderón","doi":"10.1080/03630269.2026.2632763","DOIUrl":"10.1080/03630269.2026.2632763","url":null,"abstract":"<p><p>Beta-thalassemia, caused by mutations in the β-globin gene, is an important disease for both basic and translational research. This hemoglobinopathy is molecularly and clinically heterogeneous, and its high prevalence in certain geographic areas has been attributed to a combination of evolutionary, environmental, and sociocultural factors. This report provides an update on the genetic dissection of β-thalassemia in western Andalusia (southern Spain) using a population genetics approach. The results were consistent with previous reports and support the idea of a specific substrate for the disorder in southwestern Iberia, with variant <i>IVS I-1</i> (G > A) being a hallmark of autochthonous people. A single case of the hemoglobin variant Hb City of Hope (<i>CD 69</i>), a rare mutation reported in fewer than fifty individuals worldwide, was detected. Clinical differences associated with the specific β-globin mutation were also explored, with significance observed only for MCV when comparing mean values of <i>IVS II-745</i> vs. <i>CD 39</i> and <i>IVS II-745</i> vs. <i>IVS I-1</i>.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"207-212"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147344152","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 in Thalassemia: Global Research Trend Analysis.","authors":"Muhammad Saboor, Maryam Jasem Alblooshi, Alreem Adel Alkaabi, Fatemeh Ramazan Soozaei, Moza Hamad Alketbi","doi":"10.1080/03630269.2026.2634815","DOIUrl":"10.1080/03630269.2026.2634815","url":null,"abstract":"<p><p>β-Thalassemia is a prevalent inherited disorder of β-globin chains. The clustered regularly interspaced short palindromic repeats (CRISPR) genome editing system has emerged as a potential curative strategy. We conducted a bibliometric analysis to map global research trends in CRISPR-based thalassemia research. Original and review research articles were retrieved from the Scopus database using the search terms [TITLE-ABS-KEY ('βeta thalassemia' OR 'β thalassemia' OR thalassemia*) AND TITLE-ABS-KEY ('gene edit*' OR crispr* OR 'clustered regularly interspaced short palindromic repeats')] AND [LIMIT-TO (DOCTYPE, 're') OR LIMIT-TO (DOCTYPE, 'ar')] for analysis. Bibliometric mapping and network visualization were performed using VOSviewer to analyze publication trends, authorship networks, international collaborations, keyword clusters, and citation metrics. Major CRISPR-based therapeutic strategies for thalassemia were reviewed to place experimental and clinical developments within a translational framework. The analysis demonstrates a clear transition from foundational genomic studies to translational applications, with leading contributions from the United States and China. Two dominant therapeutic strategies have emerged: direct correction of the <i>HBB</i> gene in hematopoietic stem cells and fetal hemoglobin reactivation via <i>BCL11A</i> repression. The latter strategy culminated in regulatory approval of exagamglogene autotemcel (Casgevy). Advances in base editing, prime editing, and strategies to improve engraftment are expected to enhance the precision and long-term efficacy of next-generation approaches. Clustered regularly interspaced short palindromic repeats-based research on thalassemia continues to expand, supported by extensive international collaboration and growing clinical translation. Future large-scale implementation will require advances in bioprocess engineering, cost reduction for <i>ex vivo</i> manufacturing, and adaptable treatment models for diverse healthcare systems.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"141-155"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147365049","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":"Therapeutic Plasma Exchange as a Rescue Therapy in Sickle Cell Disease-Associated Fat Embolism Syndrome: Case Series and Literature Review.","authors":"Abdulmohsen K Aljishi, Fatimah A Alrabia, Abdullah M Al Abbas, Mona M Alfaraj, Fadhel A Alomar, Salah Abohelaika","doi":"10.1080/03630269.2026.2625352","DOIUrl":"10.1080/03630269.2026.2625352","url":null,"abstract":"<p><p>Fat embolism syndrome (FES) in sickle cell disease (SCD) remains a significant diagnostic and therapeutic challenge, often associated with high morbidity and mortality. While red blood cell exchange (RCE) is the standard first-line therapy, some cases continue to deteriorate despite aggressive management. Emerging evidence suggests that therapeutic plasma exchange (TPE) may serve as valuable salvage therapy, potentially improving survival in refractory cases. We present two cases of FES in SCD, both marked by an attack of profound hypotension and multiorgan dysfunction, yet with distinct trajectories and responses to therapy. The first case involved a 34-year-old female with FES refractory to conventional treatment, including RCE. A single session of TPE led to rapid clinical stabilization and recovery. The second case described a 28-year-old female with a more severe disease course, requiring five cycles of combined RCE and TPE before achieving clinical improvement and recovery. These cases underscore the potential role of TPE as an adjunct to RCE in managing FES in SCD and highlight the need for further research to establish its efficacy in this critical setting.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"175-182"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146112877","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":"Pyruvate Kinase Activators for Sickle Cell Disease: An Exploratory Systematic Review and Meta-Analysis.","authors":"Henrique Guimaraes Barbosa Coelho, Andre Felipe Pastick de Hollanda Oliveira, Vítor Lourival De Sousa Silva, Fahad M Alabbas","doi":"10.1080/03630269.2026.2634813","DOIUrl":"10.1080/03630269.2026.2634813","url":null,"abstract":"<p><p>Pyruvate kinase (PK) activators enhance glycolytic flux, increasing ATP production and lowering red blood cell (RBC) 2,3-diphosphoglycerate (2,3-DPG), thereby improving oxygen affinity and potentially reducing hemoglobin S polymerization in sickle cell disease (SCD). Through these biochemical effects, PK activation may decrease hemolysis and improve anemia. This systematic review and meta-analysis evaluated the impact of PK activators on hematologic and hemolytic parameters in adults with SCD. We searched PubMed, Embase, and the Cochrane Central Register of Controlled Trials from inception through April 2025 for clinical trials evaluating PK activators in adults with SCD treated for ≥2 weeks. The primary outcome was mean change in hemoglobin (Hb). Secondary outcomes included changes in lactate dehydrogenase (LDH) and absolute reticulocyte count (ARC). Random-effects models were used for all pooled analyses. Five early-phase clinical trials (n = 115) were included, predominantly involving adults with HbSS, most receiving concomitant hydroxyurea. PK activator therapy significantly increased Hb (mean difference [MD] 1.23 g/dL; 95% CI 1.03-1.43), reduced LDH (MD -83.2 U/L; 95% CI -115.9 to -50.2), and decreased ARC (MD -62.8 × 10³/µL; 95% CI -92.1 to -33.5). Heterogeneity was low to moderate across outcomes, and sensitivity analyses confirmed the robustness of effect estimates. PK activators improve key hematologic and hemolytic markers in adults with SCD, supporting their mechanistic potential as disease-modifying agents. Larger, randomized Phase 3 trials are needed to determine effects on clinical endpoints such as vaso-occlusive crises, transfusion requirements, and long-term safety.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"167-174"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147305181","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":"A Rare Case of <i>De Novo</i> α-Globin Cluster Duplication, ααα¹⁰² (NC_000016.10: G.79903_181947dup) in a β-Thalassemia IVS 1-1 (G>T) (<i>HBB</i>: C.92 + 1G>T) Carrier with Thalassemia Intermedia Phenotype.","authors":"Ezalia Esa, Syahzuwan Hassan, Yuslina Mat Yusoff, Norafiza Mohd Yasin, Faidatul Syazlin Abdul Hamid, Ermi Neiza Mohd Sahid, Azian Naila Md Nor, Suguna Somasundram, Nur Aisyah Aziz, Ezzanie Suffya Zulkefli, Zubaidah Zakaria, Azlinda Abu Bakar","doi":"10.1080/03630269.2026.2644254","DOIUrl":"https://doi.org/10.1080/03630269.2026.2644254","url":null,"abstract":"<p><p>α-Globin triplication increases α/non-α-chain imbalance and may lead to a symptomatic β-thalassemia carrier. We describe a novel, <i>de novo</i> large segmental duplication, ααα¹⁰² in a patient who is a β-thalassemia IVS 1-1 (G > T) (<i>HBB</i>:c0.92 + 1G > T) carrier and presented with thalassemia intermedia. The duplication spans from intron II, position 203 of the N-methylpurine DNA glycosylase (<i>MPG</i>) gene, to the downstream region of the Hemoglobin Subunit Theta 1 (<i>HBQ1</i>) gene (GRCh38.p14) (HGVS NC_000016.10:g.79903_181947dup). The heterozygous β-thalassemia IVS 1-1 (G > T) was inherited from the father, while the mother was negative for thalassemia. α-MLPA analysis revealed multiple polymorphisms in the father; however, neither parent had the duplication. We concluded that the segmental duplication occurred <i>de novo</i>. In pre-marital screening programs, α-triplications and duplicated α-globin loci should be investigated when one partner has β-thalassemia or a β-thalassemia carrier.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"50 2","pages":"183-191"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147645138","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":"Comparative Analysis of Erythroferrone and Hepcidin as Emerging Biomarkers of Iron Homeostasis in Patients with β-Thalassemia Major: A Case-Control Study from Pakistan.","authors":"Sadia Babar, Muhammad Younus Jamal Siddiqi, Muhammad Rizwan, Saad Ahmed, Muhammad Saboor","doi":"10.1080/03630269.2026.2637574","DOIUrl":"10.1080/03630269.2026.2637574","url":null,"abstract":"<p><p>Iron dysregulation in β-thalassemia major arises from a cycle of ineffective erythropoiesis, chronic transfusions, and suppressed hepcidin activity, leading to progressive iron overload and multi-organ toxicity. Erythroferrone (ERFE) plays a key role in modulating hepcidin and is associated with iron overload in β-thalassemia. This study aimed to evaluate ERFE and hepcidin levels in patients with β-thalassemia major with high plasma ferritin, and to compare them with those of healthy controls, while controlling for age, gender, disease progression, transfusion effects, chelation therapy, and splenomegaly. In this cross-sectional study, 85 participants (45 patients with β-thalassemia and 40 healthy controls) were enrolled. Blood samples were collected from patients 2 weeks post-transfusion to minimize the impact of the transfusion on ERFE and hepcidin levels. ERFE and hepcidin levels were measured by immunoassay. ERFE levels were significantly higher in patients with β-thalassemia (90.00 ng/ml [75.25 - 103.50]) than in controls (19.30 ng/ml [13.85 - 30.22]), whereas hepcidin levels were lower in patients (22.80 ng/ml [17.40 - 33.17]) than in controls (49.55 ng/ml [30.42 - 74.12]). Ferritin was significantly elevated in patients at 2998.00 ng/ml (1998.50 - 4087.50), concurrent with increased serum iron at 234.00 μg/dl (182.00-264.00) and decreased iron-binding capacity. Notable correlations included an inverse relationship between ERFE and hepcidin (ρ = -0.408, <i>p</i> = 0.005) and a positive correlation between ERFE and ferritin (ρ = 0.320, <i>p</i> = 0.032). These findings reveal a significant association of elevated ferritin with iron overload in β-thalassemia major. Hepcidin suppression appears primarily disease-driven, and ERFE inversely correlates with hepcidin levels. Targeted interventions are necessary to address iron overload and dysregulated hepcidin in affected individuals.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"156-166"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147432531","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 the Neuropathic Component of Pain in Sickle Cell Disease.","authors":"Maya Mohan, Swathi V, Pooja Aggarwal, Rathnamma S, Deepa Bhat","doi":"10.1080/03630269.2026.2630706","DOIUrl":"10.1080/03630269.2026.2630706","url":null,"abstract":"<p><p>Pain is the defining factor of sickle cell disease (SCD), an inherited blood disorder. A cross-sectional study on the prevalence of the neuropathic component of pain in the Indian tribal population was conducted from August 2024 to June 2025 in Mysuru and Chamarajanagar districts, Karnataka. Forty eight individuals (aged ≥10 years, mean age 26 years) with the HbSS genotype were assessed using the painDETECT questionnaire, translated and adapted for local use. 48% exhibited painDETECT scores suggestive of a neuropathic pain component. 29.2% had a definitive neuropathic component and 18.8% had a probable neuropathic component. 35.4% of patients reported a pain pattern consistent with neuropathic features (pain attacks with/without pain between them). Pain radiation, a feature of neuropathic pain, was reported by 70.8% of individuals. No significant associations were found between neuropathic pain scores and age or gender. Our study highlights the prevalence of the neuropathic component of pain in SCD in the <i>Jenu Kuruba</i> and <i>Soligas</i> tribal populations of India. Further research is necessary to identify a standardized pain evaluation tool for this population. Individualized culturally sensitive, neuropathic pain specific interventions could significantly improve pain control and the quality of life in this underserved population.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"197-202"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147276325","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":"Treatment Status and Quality-of-Life Assessment of Transfusion-Dependent Thalassemia Managed with Standard-of-Care or Hematopoietic Stem Cell Transplantation in Southern Jiangxi, China: A Cross-Sectional Study.","authors":"Ping-Fang Liu, Shan Wen, Qi Xiao, Xi-Qing Rao, Xin-Yan Huang, Zou-Fang Huang","doi":"10.1080/03630269.2026.2624486","DOIUrl":"10.1080/03630269.2026.2624486","url":null,"abstract":"<p><p>This study aimed to evaluate health-related quality of life (HRQoL) and its determinants in patients with transfusion-dependent thalassemia (TDT) to inform clinical decision-making and patient-centered outcomes. A cohort of 111 patients aged 2-17.9 years from Ganzhou, Jiangxi Province, was assessed using the Chinese versions of the Pediatric Quality of Life Inventory 4.0, with concurrent analysis of sociodemographic, clinical, and genetic parameters. Comparative analysis revealed that TDT patients who had undergone hematopoietic stem cell transplantation (HSCT) had statistically significant improvements in total HRQoL scores and across four specific subdomains-physical, emotional, social, and school functioning-compared with transfusion-dependent controls. Effect size analysis indicated the most pronounced intergroup differences in physical and school functioning, exceeding established minimal clinically important difference thresholds. After adjusting for age and ferritin levels via multivariable linear regression, ongoing transfusion dependence and the presence of complications were identified as independent predictors of reduced HRQoL scores. In conclusion, HSCT is associated with a significant improvement in quality of life for patients with TDT. These findings underscore the importance of standardizing transfusion protocols and proactively managing complications to optimize long-term outcomes in TDT care.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"101-110"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147283444","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":"Neurological Complications in Sickle Cell Disease: Clinical, Analytical and Radiological Correlations in a Multicentre Cohort.","authors":"Ana Gómez-Martínez, Marta Moreno Carbonell, Sergio Pinzón Mariño, María Bestué, Enrique Alvarez-Arranz, Valle Recasens","doi":"10.1080/03630269.2026.2631712","DOIUrl":"10.1080/03630269.2026.2631712","url":null,"abstract":"<p><p>Sickle cell disease is a structural hemoglobinopathy with high global prevalence, especially in Africa. Neurological complications affect a high percentage of patients. An observational, retrospective, multicenter study was conducted in Aragon (Spain) among patients ≥12 years of age with sickle cell disease followed up between 2021 and 2022. Sociodemographic, clinical, analytical and therapeutic variables were analyzed, along with alterations in cerebral blood flow velocity assessed by transcranial and carotid Doppler ultrasound, and findings from imaging and magnetic resonance. Forty patients were evaluated (aged 12-58 years; 52.5% male). Forty percent of patients had pathological findings on magnetic resonance imaging (7.5% infarction, 17.5% silent infarcts, 5% cerebral aneurysms, and 5% stenosis). Only 7.5% of patients presented alterations in flow velocity assessed by transcranial Doppler ultrasound, with imaging of the carotid and middle cerebral arteries. The most severe phenotypes of sickle cell disease were associated with a higher incidence of neurological complications. Deficiencies in natural anticoagulant proteins were observed. This study shows low Doppler ultrasound sensitivity in screening for neurological complications in patients with sickle cell disease. Although the sample size is limited, this analysis provides relevant information and generates new study hypotheses about the value of incorporating structural neuroimaging into long-term follow-up strategies and thrombophilia studies in selected patients. However, larger prospective studies are needed to refine screening algorithms and determine the prognostic implications of neurological lesions in sickle cell disease.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"121-131"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147344163","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}