Hemoglobin最新文献_第7页

First Case of Hb City of Hope (HBB: c.208G > A) in Andalusia. A Molecular Update of β-Thalassemia in Southwestern Spain (Huelva Province). 安达卢西亚Hb希望之城的首例病例（HBB: c.208G . bbb10a）。西班牙西南部（韦尔瓦省）β-地中海贫血分子研究进展。

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-03-02 DOI: 10.1080/03630269.2026.2632763

Candela L Hernández, Sergio Aguado, Luis J Sánchez-Martínez, Juan N Rodríguez, Antonio Palma, Paloma Ropero, Rosario Calderón

{"title":"First Case of Hb City of Hope (HBB: 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":"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 IVS I-1 (G > A) being a hallmark of autochthonous people. A single case of the hemoglobin variant Hb City of Hope (CD 69), 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 IVS II-745 vs. CD 39 and IVS II-745 vs. IVS I-1.","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}

引用次数: 0

Pyruvate Kinase Activators for Sickle Cell Disease: An Exploratory Systematic Review and Meta-Analysis. 镰状细胞病的丙酮酸激酶激活剂：探索性系统回顾和荟萃分析。

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-02-25 DOI: 10.1080/03630269.2026.2634813

Henrique Guimaraes Barbosa Coelho, Andre Felipe Pastick de Hollanda Oliveira, Vítor Lourival De Sousa Silva, Fahad M Alabbas

{"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":"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.","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}

引用次数: 0

Therapeutic Plasma Exchange as a Rescue Therapy in Sickle Cell Disease-Associated Fat Embolism Syndrome: Case Series and Literature Review. 治疗性血浆置换作为镰状细胞病相关脂肪栓塞综合征的抢救治疗：病例系列和文献综述

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-02-03 DOI: 10.1080/03630269.2026.2625352

Abdulmohsen K Aljishi, Fatimah A Alrabia, Abdullah M Al Abbas, Mona M Alfaraj, Fadhel A Alomar, Salah Abohelaika

{"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":"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.","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}

引用次数: 0

Comparative Analysis of Erythroferrone and Hepcidin as Emerging Biomarkers of Iron Homeostasis in Patients with β-Thalassemia Major: A Case-Control Study from Pakistan. 红细胞铁酮和Hepcidin作为β-地中海贫血患者铁稳态新生物标志物的比较分析：来自巴基斯坦的病例对照研究

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-03-10 DOI: 10.1080/03630269.2026.2637574

Sadia Babar, Muhammad Younus Jamal Siddiqi, Muhammad Rizwan, Saad Ahmed, Muhammad Saboor

{"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":"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, p = 0.005) and a positive correlation between ERFE and ferritin (ρ = 0.320, p = 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.","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}

引用次数: 0

A Rare Case of De Novo α-Globin Cluster Duplication, ααα¹⁰² (NC_000016.10: G.79903_181947dup) in a β-Thalassemia IVS 1-1 (G>T) (HBB: C.92 + 1G>T) Carrier with Thalassemia Intermedia Phenotype. 地中海贫血中间表型β-地中海贫血IVS 1-1 (G>T) （HBB: C.92 + 1G>T）携带者中罕见的α-珠蛋白簇重复ααα102 （NC_000016.10: G.79903_181947dup）

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-04-09 DOI: 10.1080/03630269.2026.2644254

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

{"title":"A Rare Case of De Novo α-Globin Cluster Duplication, ααα102 (NC_000016.10: G.79903_181947dup) in a β-Thalassemia IVS 1-1 (G>T) (HBB: 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":"10.1080/03630269.2026.2644254","url":null,"abstract":"α-Globin triplication increases α/non-α-chain imbalance and may lead to a symptomatic β-thalassemia carrier. We describe a novel, de novo large segmental duplication, ααα102 in a patient who is a β-thalassemia IVS 1-1 (G > T) (HBB:c0.92 + 1G > T) carrier and presented with thalassemia intermedia. The duplication spans from intron II, position 203 of the N-methylpurine DNA glycosylase (MPG) gene, to the downstream region of the Hemoglobin Subunit Theta 1 (HBQ1) 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 de novo. 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.","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}

引用次数: 0

Evaluation of the Neuropathic Component of Pain in Sickle Cell Disease. 镰状细胞病疼痛的神经病理成分评价。

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-02-23 DOI: 10.1080/03630269.2026.2630706

Maya Mohan, Swathi V, Pooja Aggarwal, Rathnamma S, Deepa Bhat

{"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":"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 Jenu Kuruba and Soligas 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.","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}

引用次数: 0

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. 中国赣南地区输血依赖型地中海贫血标准治疗或造血干细胞移植的治疗现状和生活质量评估：一项横断面研究。

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-02-24 DOI: 10.1080/03630269.2026.2624486

Ping-Fang Liu, Shan Wen, Qi Xiao, Xi-Qing Rao, Xin-Yan Huang, Zou-Fang Huang

{"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":"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.","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}

引用次数: 0

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-03-02 DOI: 10.1080/03630269.2026.2632167

Mayank Soni, Reema Singh, Sujay Rainchwar, Niharika Bhatia, Garima Sarpal, Reshmi Harikumar Pillai, Aakanksha Singh, Sakshi Bhatnagar, Vipul Sharad Sheth, Narendra Agrawal, Dinesh Bhurani, Rohan Halder

{"title":"Matched Unrelated Donor (MUD) Transplants Show Promising Outcomes in Thalassemia Patients Aged ≤ 12 Years.","authors":"Mayank Soni, Reema Singh, Sujay Rainchwar, Niharika Bhatia, Garima Sarpal, Reshmi Harikumar Pillai, Aakanksha Singh, Sakshi Bhatnagar, Vipul Sharad Sheth, Narendra Agrawal, Dinesh Bhurani, Rohan Halder","doi":"10.1080/03630269.2026.2632167","DOIUrl":"10.1080/03630269.2026.2632167","url":null,"abstract":"Matched unrelated donor (MUD) hematopoietic stem cell transplantation (HSCT) is a viable curative option for children with transfusion-dependent thalassemia major lacking a matched sibling donor. This study aimed to evaluate outcomes of MUD-HSCT in pediatric patients (≤ 12 years) because data on such a cohort are sparse. A retrospective analysis was conducted on 25 patients with thalassemia (≤12 years) who underwent MUD-HSCT. Data on patient demographics, transplant characteristics, post-transplant complications, and survival outcomes were collected. Kaplan-Meier survival analysis was used to estimate overall survival (OS), thalassemia-free survival (TFS), graft-versus-host and relapse-free survival (GRFS), and graft-versus-host and thalassemia-free survival (GTFS). Cox regression analysis was performed to identify predictors of GRFS. Median age at transplantation was 9 years; 60.9% were male. Most patients (68%) were Nanfang Class III. Median ANC and platelet engraftment occurred at 16 and 15 days, respectively. Acute and chronic GVHD were observed in 52% and 16% of patients, respectively. CMV reactivation occurred in 24%. Estimated 5-year OS, TFS, GRFS, and GTFS were 95.8%, 92%, 75.8%, and 92%, respectively. Elevated ferritin levels > 2500 ng/mL were independently associated with inferior GRFS (HR: 0.040; p-value = 0.031). In conclusion, MUD-HSCT yields excellent outcomes for OS and TFS in pediatric patients with thalassemia aged ≤ 12 years. High pre-transplant ferritin adversely impacted GRFS, underscoring the importance of iron control. These findings support MUD-HSCT as a viable option with appropriate pre-transplant optimization and GVHD management.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"132-140"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147344147","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

Neurological Complications in Sickle Cell Disease: Clinical, Analytical and Radiological Correlations in a Multicentre Cohort. 镰状细胞病的神经系统并发症：多中心队列的临床、分析和放射学相关性

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-03-02 DOI: 10.1080/03630269.2026.2631712

Ana Gómez-Martínez, Marta Moreno Carbonell, Sergio Pinzón Mariño, María Bestué, Enrique Alvarez-Arranz, Valle Recasens

{"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":"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.","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}

引用次数: 0

Distinguishing the R2 from the R Quaternary Structure of Hemoglobin: Role of the Tertiary Structure Transition Involving the 93β Sulfhydryl Group. 血红蛋白R2和R四级结构的区别：涉及93β巯基的三级结构转变的作用。

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2026-01-19 DOI: 10.1080/03630269.2025.2603088

Kehinde O Okonjo, Abimbola M Olatunde, J Chijioke Ajaelu, Olutoyin T Fasuyi-Enang, Adedayo A Fodeke, Omolola E Omotosho, Onyinyechi V Uhuo, J Oyebamiji Babalola

{"title":"Distinguishing the R2 from the R Quaternary Structure of Hemoglobin: Role of the Tertiary Structure Transition Involving the 93β Sulfhydryl Group.","authors":"Kehinde O Okonjo, Abimbola M Olatunde, J Chijioke Ajaelu, Olutoyin T Fasuyi-Enang, Adedayo A Fodeke, Omolola E Omotosho, Onyinyechi V Uhuo, J Oyebamiji Babalola","doi":"10.1080/03630269.2025.2603088","DOIUrl":"10.1080/03630269.2025.2603088","url":null,"abstract":"A problem in hemoglobin studies is separating the allosteric and affinity factors that account for differences in the oxygen partial pressure at 50% saturation among various hemoglobins. Like oxygen binding to the hemes, the reaction of Ellman's reagent, 5,5'-dithiobis(2-nitrobenzoate)-DTNB for short-with the 93β sulfhydryl groups of hemoglobin is a reversible process. However, the reaction of DTNB with Cys93β of hemoglobin is devoid of allosteric factors. We present the results of equilibrium studies of the reaction of DTNB with thirty-eight heme-liganded hemoglobins between pH 5.6 and 9. Over a considerable pH range, inositol hexakisphosphate (inositol-P6) decreases the DTNB affinities of hemoglobins that have the R2 quaternary structure. By contrast, inositol-P6 increases the DTNB affinities of hemoglobins that have the R quaternary structure. Theoretical analyses of the pH dependence profiles show that inositol-P6 lowers the DTNB affinities of R2-state hemoglobins by shifting the equilibrium between two tertiary structures, r and t, in favor of the r structure. By contrast, inositol-P6 increases the DTNB affinities of R-state hemoglobins by shifting the r⇌t tertiary equilibrium in favor of the t structure. We suggest that the differences in the oxygen affinities of various hemoglobins may be accounted for, partially, by differences in their tertiary equilibria.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"11-28"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146003501","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}

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