Hemoglobin最新文献_第5页

Pyruvate Kinase Activation in the Management of Thalassemia and Sickle Cell Disease. 丙酮酸激酶激活在地中海贫血和镰状细胞病治疗中的作用。

IF 1 4区医学

Hemoglobin Pub Date : 2026-07-01 Epub Date: 2026-06-09 DOI: 10.1080/03630269.2026.2682386

Khaled M Musallam, Biree Andemariam

{"title":"Pyruvate Kinase Activation in the Management of Thalassemia and Sickle Cell Disease.","authors":"Khaled M Musallam, Biree Andemariam","doi":"10.1080/03630269.2026.2682386","DOIUrl":"10.1080/03630269.2026.2682386","url":null,"abstract":"Thalassemia and sickle cell disease (SCD) are among the most common monogenic disorders worldwide and remain associated with substantial morbidity despite advances in supportive care, transfusion practices, and iron chelation. Although hydroxyurea, luspatercept, and curative approaches such as allogeneic transplantation and gene therapy have expanded the therapeutic landscape, major unmet needs persist because of limited access, variable response, toxicity, cost, and incomplete control of anemia, ineffective erythropoiesis, hemolysis, and/or vaso-occlusion. Pyruvate kinase (PK), a key glycolytic enzyme in red blood cells, has emerged as a rational therapeutic target in both thalassemia and SCD through effects on adenosine triphosphate production, 2,3-diphosphoglycerate regulation, red cell survival, membrane integrity, and sickling propensity. This review summarizes the biological rationale and available preclinical and clinical data on PK activators in these disorders. Mitapivat, a first-in-class oral PK activator, has shown encouraging activity across thalassemia and SCD. In non-transfusion-dependent thalassemia, phase 2 and phase 3 studies demonstrated clinically meaningful hemoglobin responses, improvements in hemolysis and erythropoietic markers, and benefits in fatigue. In transfusion-dependent thalassemia, mitapivat reduced transfusion burden. In SCD, mitapivat consistently improved hemoglobin and hemolysis markers and showed favorable pharmacodynamic effects, with clinically significant reductions in pain crises among hemoglobin responders. Tebapivat and etavopivat, two additional PK activators in earlier stages of development, have also shown promising metabolic, hematologic, and rheologic effects. Overall, PK activation represents a promising disease-modifying strategy in thalassemia and SCD, although optimal patient selection, affordability, and equitable global access will need to be addressed.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"308-320"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148204714","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 Novel Hemoglobin Variant, Hb Hefei [CD113(GTG > GGG)(Val > Gly); HBB:c.341T > G], Was Detected by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry. 一种新的血红蛋白变异Hb合肥[CD113(GTG > GGG)（Val > Gly）HBB: c。采用基质辅助激光解吸/电离飞行时间质谱法对341t>g进行了检测。

IF 1 4区医学

Hemoglobin Pub Date : 2026-07-01 Epub Date: 2026-07-27 DOI: 10.1080/03630269.2026.2702334

Yueying Huang, Rui Ji, Weijie Xie, Xiaolian Yang, Huijun Yang, Ling Ji, Anping Xu

引用次数: 0

Hb F-SickKids (HBG2: C.308A > G): A Novel γ-Globin Variant Associated with Transient Neonatal Cyanosis. Hb F-SickKids (HBG2: C.308A > G)：一种与短暂新生儿紫绀相关的γ-珠蛋白新变异

IF 1 4区医学

Hemoglobin Pub Date : 2026-07-01 Epub Date: 2026-06-10 DOI: 10.1080/03630269.2026.2684683

Landry E Nfonsam, Meredith Hanna, Lisa Nakamura, Lynda Walker, Barry Eng, Michelle Fantauzzi, Manuel D Carcao, John S Waye

引用次数: 0

Genetic Analysis of Two Patients with Compound Thalassemia Presenting with Elevated HbF and Normal HbA₂ Levels. 2例HbF升高和HbA2正常的复合地中海贫血患者的遗传分析

IF 1 4区医学

Hemoglobin Pub Date : 2026-07-01 Epub Date: 2026-07-27 DOI: 10.1080/03630269.2026.2703233

Ying Zhao, Jiwu Lou, Youqing Fu, Yunshi Dai, Wanling Ye, Fuxiao Liang, Tizhen Yan

{"title":"Genetic Analysis of Two Patients with Compound Thalassemia Presenting with Elevated HbF and Normal HbA2 Levels.","authors":"Ying Zhao, Jiwu Lou, Youqing Fu, Yunshi Dai, Wanling Ye, Fuxiao Liang, Tizhen Yan","doi":"10.1080/03630269.2026.2703233","DOIUrl":"10.1080/03630269.2026.2703233","url":null,"abstract":"β-Thalassemia is a common inherited disorder caused by reduced or absent expression of the β-globin gene (HBB). In routine screening, co-inherited modifying mutations can result in normal HbA2 levels even in the presence of elevated HbF, potentially masking a diagnosis of heterozygous β-thalassemia. Here, we report two women of reproductive age who presented with microcytosis, hypochromia, normal HbA2, and elevated HbF. Full-length sequencing of the α-, β-, δ-, Aγ-, and Gγ- globin genes was performed using third-generation sequencing combined with Sanger sequencing. Both patients were heterozygous for β-thalassemia and shared common γ-globin mutations (HBG1:c.-29G > A, HBG2:c.-211C > T). Patient 1 carried HBB:c.126_129del CTTT and a single δ-globin mutation (HBD:c.-127T > C). Patient 2 carried HBB:c.52A > T and two δ-globin mutations in cis (HBD:c.-127T > C; c.262C > T). The combined effects resulted in normalized HbA2 and elevated HbF, thereby complicating the phenotypic presentation. These patients highlight that compound mutations can act as phenotypic modifiers and represent an important cause of missed or delayed diagnosis of β-thalassemia on routine screening. For individuals presenting with elevated HbF and \"normal\" HbA2 levels, comprehensive genetic testing of the δ- and γ- genes is recommended to achieve genotype-phenotype correlation.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"374-380"},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148602356","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

miR-192-5p as a Potential Diagnostic Biomarker for β-Thalassemia and Its Regulatory Mechanism via Targeting BCL11A. miR-192-5p作为β-地中海贫血的潜在诊断生物标志物及其通过靶向BCL11A的调控机制

IF 1 4区医学

Hemoglobin Pub Date : 2026-05-01 Epub Date: 2026-04-15 DOI: 10.1080/03630269.2026.2639504

Juyi Gao, Yanwen Li, Weidan Li, Shasha Li, Shaoyun Li

引用次数: 0

Hemoglobin Evans Associated with HBA1 Mutation: First Report from Rosario, Argentina. 血红蛋白Evans与HBA1突变相关：来自阿根廷罗萨里奥的第一份报告。

IF 1 4区医学

Hemoglobin Pub Date : 2026-05-01 Epub Date: 2026-05-06 DOI: 10.1080/03630269.2026.2664203

Mariana Raviola, Georgina Maroni, Arianna Pratti, German Alejandro Detarsio, María Ángela Cherichetti, María Victoria Schoepf, Osvaldo Stefan Gaggioli, Daniela Bonavita, Paulina Casesi, Mara Ojeda

{"title":"Hemoglobin Evans Associated with HBA1 Mutation: First Report from Rosario, Argentina.","authors":"Mariana Raviola, Georgina Maroni, Arianna Pratti, German Alejandro Detarsio, María Ángela Cherichetti, María Victoria Schoepf, Osvaldo Stefan Gaggioli, Daniela Bonavita, Paulina Casesi, Mara Ojeda","doi":"10.1080/03630269.2026.2664203","DOIUrl":"10.1080/03630269.2026.2664203","url":null,"abstract":"Hemoglobin Evans is a rare, unstable α-chain variant resulting from a valine-to-methionine substitution at codon 62 (E11) of the α-globin gene, previously reported only in HBA2. We describe the first documented case involving the HBA1 gene (HBA1:c.187G > A), identified in a 3-year-old boy who was evaluated for persistent anemia. Laboratory findings revealed hemolytic anemia with low haptoglobin, a negative Coombs test, anisopoikilocytosis, basophilic stippling, and Heinz bodies. The isopropanol instability test was positive in the patient, his father, and his sister, while molecular analysis confirmed heterozygosity for the HBA1:c.187G > A variant in all three family members. This substitution, located in the heme crevice, likely disrupts heme binding and reduces hemoglobin stability, leading to hemolysis. The clinical phenotype was consistent with mild chronic hemolytic anemia, potentially related to the lower transcriptional activity of HBA1 compared with HBA2. This report expands the molecular spectrum of unstable hemoglobins and underscores the importance of α-globin gene analysis in the evaluation of unexplained hemolytic anemia.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"278-281"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837445","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

"Assessing Long-Term Health-Related Quality of Life in Children with β-Thalassemia Major Following Hematopoietic Stem Cell Transplantation" - A Cross-Sectional Comparative Study. “评估造血干细胞移植后β-地中海贫血儿童的长期健康相关生活质量”——一项横断面比较研究。

IF 1 4区医学

Hemoglobin Pub Date : 2026-05-01 Epub Date: 2026-04-07 DOI: 10.1080/03630269.2026.2651547

Varsha Mishra, Reema Singh, Rohan Halder, Narendra Agarwal, Tribikram Panda, Dinesh Bhurani

{"title":"\"Assessing Long-Term Health-Related Quality of Life in Children with β-Thalassemia Major Following Hematopoietic Stem Cell Transplantation\" - A Cross-Sectional Comparative Study.","authors":"Varsha Mishra, Reema Singh, Rohan Halder, Narendra Agarwal, Tribikram Panda, Dinesh Bhurani","doi":"10.1080/03630269.2026.2651547","DOIUrl":"10.1080/03630269.2026.2651547","url":null,"abstract":"This study aimed to compare the health-related quality of life (HRQoL) of children under 18 years with β-thalassemia major (β-TM) who are at least 2 years post-hematopoietic stem cell transplantation (HSCT) with that of children receiving conventional therapy. It was a cross-sectional comparative study involving 41 patients in the transplant (Tx) group and 59 patients in the non-transplant (NTx) group, both matched by age and sex. HRQoL was assessed using the PedsQL 4.0 Generic Core Scales. The median age at HRQoL assessment was 13 years for the Tx group and 10 years for the NTx group. In the Tx group, the median time from transplant to HRQoL assessment was 25.1 months, with a median follow-up of 38.2 months post-transplant (range 24.5-96.2 months). The Tx group had significantly higher HRQoL scores across all domains-physical, emotional, social, school functioning, psychosocial health, and overall health-compared to the NTx group (p < 0.05). Additionally, patients in the Tx group with serum ferritin levels below 2000 mg/dl reported better scores (p < 0.05). However, the presence of graft-versus-host disease negatively impacted HRQoL, especially in the social domain (p = 0.04). HSCT significantly improves long-term HRQoL in children with β-TM.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"221-228"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147627499","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

Beyond Diagnosis: A Systematic Review of Artificial Intelligence and Deep Learning in Monitoring Iron Overload and Organ Toxicity in Beta-Thalassemia. 超越诊断：人工智能和深度学习在监测-地中海贫血中铁超载和器官毒性方面的系统综述。

IF 1 4区医学

Hemoglobin Pub Date : 2026-05-01 Epub Date: 2026-05-06 DOI: 10.1080/03630269.2026.2653733

Abdulrahman Nasiri, Mostafa F Mohammed Saleh, Manal Alshammari, Ali Alahmari, Reem Alkharras, Fahad Almohareb

{"title":"Beyond Diagnosis: A Systematic Review of Artificial Intelligence and Deep Learning in Monitoring Iron Overload and Organ Toxicity in Beta-Thalassemia.","authors":"Abdulrahman Nasiri, Mostafa F Mohammed Saleh, Manal Alshammari, Ali Alahmari, Reem Alkharras, Fahad Almohareb","doi":"10.1080/03630269.2026.2653733","DOIUrl":"10.1080/03630269.2026.2653733","url":null,"abstract":"Transfusion-dependent β-thalassemia (B-TM) is complicated by progressive iron overload, remaining a primary cause of organ toxicity and mortality despite chelation therapy advances. Accurate monitoring of hepatic and cardiac iron levels is crucial. Traditional methods, like serum ferritin and magnetic resonance imaging (MRI) T2* relaxometry, improved outcomes but suffer from biological variability, operator dependence, and reduced precision in severe iron overload. Artificial intelligence (AI), machine learning (ML), and deep learning (DL) show promise in overcoming these limitations by automating image analysis, enhancing measurement precision, and enabling earlier detection of organ damage. This systematic review examines current evidence on AI and DL applications for monitoring iron overload and organ toxicity in B-TM patients. A search of PubMed, Scopus, and Web of Science identified studies (2019-January 2026) using AI-based models to evaluate liver iron concentration, myocardial iron concentration, or iron-related complications. Eight studies met the inclusion criteria. Most focused on DL-driven analysis of MRI R2*/T2* data for hepatic and cardiac iron assessment. These demonstrated improved segmentation accuracy, decreased interobserver variability, and better performance in severe iron overload. Additionally, ML models utilizing clinical data effectively predicted skeletal issues. While reported performance metrics were generally positive, most studies were retrospective, single-center, and lacked external validation, resulting in a high risk of bias. AI and DL approaches hold significant potential to transform iron overload monitoring in β-thalassemia. However, prospective multicenter validation, standardized reporting, and explainable AI are strictly required before these technologies can be adopted for routine clinical use.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"247-255"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837407","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

Detection of the Hb Hoshida (HBB: C. 130 G > C) Variant in the Indian Population. 印度人群中星田血红蛋白（HBB: C. 130 G . > C）变异的检测。

IF 1 4区医学

Hemoglobin Pub Date : 2026-05-01 Epub Date: 2026-05-20 DOI: 10.1080/03630269.2026.2671886

Aditi Sen, Tuphan Kanti Dolai

{"title":"Detection of the Hb Hoshida (HBB: C. 130 G > C) Variant in the Indian Population.","authors":"Aditi Sen, Tuphan Kanti Dolai","doi":"10.1080/03630269.2026.2671886","DOIUrl":"10.1080/03630269.2026.2671886","url":null,"abstract":"Hemoglobinopathies, including thalassemias and structural hemoglobin variants, are among the most common monogenic disorders worldwide. In genetically heterogeneous populations such as India, screening programs occasionally detect rare hemoglobin variants that may mimic common abnormalities, leading to diagnostic uncertainty. During prenatal screening of an at-risk couple, we identified a rare β-globin gene variant, Hb Hoshida (HBB: c.130G > C), which results in a glutamic acid-to-glutamine substitution at codon 43 of the β-globin chain-reported here for the first time in India. The proband, a 23-year-old pregnant woman, was initially diagnosed as an HbE carrier by an external laboratory using high-performance liquid chromatography (HPLC), which showed a prominent peak in the HbA2 window. Her husband was a carrier of β-thalassemia (HBB: c.92+5G>C).Re-evaluation at our center showed an unusually high HbA2-window peak (47.1%) with normal red cell indices, raising suspicion of a rare structural variant. Subsequent Sanger sequencing identified heterozygous Hb-Hoshida, and family studies confirmed it was paternally inherited.Prenatal diagnosis by chorionic villus sampling revealed compound heterozygosity for Hb-Hoshida and β-thalassemia in the fetus. After genetic counseling about the uncertain clinical implications of this previously unreported genotype, the couple elected to terminate the pregnancy. In a subsequent pregnancy, prenatal testing showed that the fetus had not inherited either parental mutation, and the pregnancy progressed normally.The identification of this rare variant emphasizes the need for cautious interpretation of hemoglobinopathy screening results in genetically heterogeneous populations and has important implications for genetic counseling and prenatal management.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"264-270"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147972089","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

Inflammatory Biomarkers in Sickle Cell Disease: Understanding Their Role in Predicting the Disease-Related Complications. 镰状细胞病中的炎症生物标志物：了解它们在预测疾病相关并发症中的作用

IF 1 4区医学

Hemoglobin Pub Date : 2026-05-01 Epub Date: 2026-04-14 DOI: 10.1080/03630269.2026.2655317

Faida Ouali, Ahlem Sahli, Amri Yessine, Rym Dabboubi, Sondess Hadj Fredj, Mariem Othmani, Siwar Chelbi, Leila Ben Salem, Ezzeddine Ghazouani, Taieb Messaoud

{"title":"Inflammatory Biomarkers in Sickle Cell Disease: Understanding Their Role in Predicting the Disease-Related Complications.","authors":"Faida Ouali, Ahlem Sahli, Amri Yessine, Rym Dabboubi, Sondess Hadj Fredj, Mariem Othmani, Siwar Chelbi, Leila Ben Salem, Ezzeddine Ghazouani, Taieb Messaoud","doi":"10.1080/03630269.2026.2655317","DOIUrl":"10.1080/03630269.2026.2655317","url":null,"abstract":"Sickle cell disease (SCD) is characterized by a chronic inflammatory state that leads to various complications. In this investigation, we quantified circulating levels of select inflammatory biomarkers including white blood cell count (WBC), C-reactive protein (CRP), and pro-inflammatory cytokines (Interleukin-1 (IL-1), Interleukin-6 (IL-6), Interleukin-8 (IL-8), and Tumor Necrosis Factor-α (TNF-α)) in a cohort of 66 patients with SCD during the steady-state. These were compared to levels in a control group, and we analyzed the association between changes in these biomarkers and the risk of SCD-related complications using odds ratios. Thus we found elevated levels of those inflammatory biomarkers when compared to controls. High WBC count was significantly more common in SCD patients with a history of recurrent infections and with cholelithiasis, but significantly less common in patients who presented with repetitive vaso-occlusive crisis (VOC). The odds of high CRP were significantly higher in the patients who presented with acute splenic sequestration (ASS), but significantly less common in those with cholelithiasis, heart murmur, osteonecrosis of femoral heads and nephropathy. High levels of IL1 were less common in patients with repetitive VOC and acute chest syndrome. High levels of IL8 were significantly more common in patients with recurrent infections and with heart murmur, but significantly less commun in patients with ASS. High TNFα levels were significantly most common in patients who developed cholelithiasis. Consequently, the assessment of inflammatory biomarker profiles during the steady-state phenotype may serve as a prognostic indicator for the development of SCD-related complications.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"237-246"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147672830","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