Hemoglobin最新文献_第8页

Identification of Sickle Cell Disease and Its Associated Other Structural Variants of Hemoglobin Using High Performance Liquid Chromatography and Their Clinical Profiling. 用高效液相色谱法鉴定镰状细胞病及其相关的其他血红蛋白结构变异及其临床分析

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2026-01-28 DOI: 10.1080/03630269.2025.2590259

Dhirendra Kumar, Lokeswara Bala Krishna S, Sridevi Parikipandla

{"title":"Identification of Sickle Cell Disease and Its Associated Other Structural Variants of Hemoglobin Using High Performance Liquid Chromatography and Their Clinical Profiling.","authors":"Dhirendra Kumar, Lokeswara Bala Krishna S, Sridevi Parikipandla","doi":"10.1080/03630269.2025.2590259","DOIUrl":"https://doi.org/10.1080/03630269.2025.2590259","url":null,"abstract":"Sickle cell disease (SCD), a well known hemoglobinopathy, is a recessive inherited blood abnormality caused by point mutation in hemoglobin proteins, notably prevalent in the tribal belt of Madhya Pradesh, India. The study aims to identify the SCD-associated hemoglobinopathies related to α- and β-globin structural variants. Over 1,200 symptomatically positive SCD individuals were screened and 503 solubility test positive samples were identified and further complete blood count (CBC) analysis showed 382 participants with abnormal hemoglobins. Confirmatory tests were alkaline electrophoresis on cellulose acetate membrane and high performance liquid chromatography (HPLC). Our study identified Hb variants, including HbSS (21.26%), HbSF (11.39%), and HbAS (63.73%). Other prevalent variants are HbJ, Hb D-Punjab, and Hb Lepore. Moreover, based on the HPLC retention time, 99 β-variants, 115 α-variants, 12 tetramers, and eight δβ-hybrid Hb variants, with six samples serving as a control for comparative analysis. Additionally, clinical profiling showed that severities are increased in combination with HbS along with other hemoglobinopathies. Further, the study reveals that Hb variants are prevalent in females, between age group of 21-30 years showing highest frequency of SCD. This study emphasizes the effectiveness of complete hemoglobinopathy screening and clinical profiling for measuring the normal and pathological conditions of the sickle cell patients.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"50 1","pages":"1-10"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147289900","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

Alterations in Serum MAO Activity and Tau Levels in β-Thalassemia. β-地中海贫血患者血清MAO活性和Tau水平的变化。

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2026-02-03 DOI: 10.1080/03630269.2026.2621350

Işıl Yağmur, Ergül Belge Kurutaş, Erkan Öner

{"title":"Alterations in Serum MAO Activity and Tau Levels in β-Thalassemia.","authors":"Işıl Yağmur, Ergül Belge Kurutaş, Erkan Öner","doi":"10.1080/03630269.2026.2621350","DOIUrl":"10.1080/03630269.2026.2621350","url":null,"abstract":"β-Thalassemia is a hereditary hemoglobinopathy characterized by chronic anemia, iron overload, and sustained oxidative stress, leading to progressive multisystem complications. Although oxidative stress is well documented in β-thalassemia, its association with peripheral biomarkers reflecting mitochondrial oxidative metabolism and neuroaxonal protein homeostasis has not been sufficiently investigated. This study aimed to evaluate serum monoamine oxidase (MAO) activity and total Tau protein levels in patients with β-thalassemia major and minor compared with healthy controls, with an emphasis on phenotype-dependent peripheral biochemical alterations related to disease severity. A total of 90 participants were enrolled, including 20 patients with β-thalassemia major, 30 with β-thalassemia minor, and 40 healthy controls. Serum MAO activity and total Tau protein concentrations were measured using ELISA-based assays. Intergroup comparisons were performed using one-way analysis of variance followed by Tukey's post hoc test. Serum MAO activity was significantly higher in the β-thalassemia major group compared with both β-thalassemia minor patients and controls (p < 0.001). Total Tau protein levels were significantly reduced in β-thalassemia major patients, whereas no significant difference was observed between β-thalassemia minor patients and healthy controls. Subgroup analyses revealed positive correlations within both β-thalassemia major and minor groups, consistent with a phenotype-dependent divergence and indicative of Simpson's paradox. In conclusion, β-thalassemia major is characterized by elevated serum MAO activity and reduced total Tau protein levels, reflecting concurrent alterations in systemic oxidative metabolism and peripheral Tau homeostasis. These findings represent peripheral biochemical signatures associated with disease severity rather than direct evidence of central nervous system pathology.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"61-68"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146112802","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

Identification of a Rare β-Globin Chain Hemoglobin Variant: HBB: C.24G > C (Glu7Asp). 一种罕见的β-珠蛋白链血红蛋白变异HBB: C. 24g > C （Glu7Asp）的鉴定

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2025-12-15 DOI: 10.1080/03630269.2025.2600554

Qianmei Zhuang, Meizhen Yan, Chunqiang Liu, Geng Wang, Yuying Jiang, Xiaolong Liu

{"title":"Identification of a Rare β-Globin Chain Hemoglobin Variant: HBB: C.24G > C (Glu7Asp).","authors":"Qianmei Zhuang, Meizhen Yan, Chunqiang Liu, Geng Wang, Yuying Jiang, Xiaolong Liu","doi":"10.1080/03630269.2025.2600554","DOIUrl":"10.1080/03630269.2025.2600554","url":null,"abstract":"We report the identification and characterization of a rare hemoglobin variant resulting from a mutation in the β-globin chain gene. The case involved a 36-year-old Han Chinese woman who was initially identified through a routine blood test that showed red blood cell microcytosis and hypochromia. Subsequent hemoglobin analysis using capillary electrophoresis revealed an unusual chromatographic pattern, characterized by a significant shoulder peak adjacent to the normal hemoglobin A (HbA), alongside the expected HbA and HbA2 peaks. To determine the genetic basis of this abnormality, HBB gene sequencing was performed. This analysis identified a heterozygous missense mutation, c.24G > C, located in exon 1. This mutation results in a GAG > GAC codon change, corresponding to a substitution of glutamic acid for aspartic acid at position 7 of the β-globin chain (Glu7Asp). This study represents the first detailed clinical and molecular description of this particular variant. The variant has been submitted to the IthaGenes global hemoglobin variant database with the submission ID 4156. In silico analysis using the PolyPhen-2 algorithm predicted this variant as 'probably damaging', with a score of 0.998. This report enriches the clinical and hematological information available for this HBB gene variant. Its accurate identification is crucial to prevent misdiagnosis and to ensure appropriate and reliable genetic counseling and prenatal diagnosis for affected individuals and their families.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"90-93"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145762797","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

The Impact of Region-of-Interest Selection on MRI T₂* Quantification of Hepatic Iron Overload in Thalassemia Major. 兴趣区选择对重度地中海贫血患者肝铁超载MRI T2*定量的影响。

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2026-01-06 DOI: 10.1080/03630269.2025.2609992

Bahareh Shahraki, Alireza Montazerabadi, Majid ValiZadeh, Pegah Lotfi, Farzaneh Ghorbani

{"title":"The Impact of Region-of-Interest Selection on MRI T2* Quantification of Hepatic Iron Overload in Thalassemia Major.","authors":"Bahareh Shahraki, Alireza Montazerabadi, Majid ValiZadeh, Pegah Lotfi, Farzaneh Ghorbani","doi":"10.1080/03630269.2025.2609992","DOIUrl":"10.1080/03630269.2025.2609992","url":null,"abstract":"Accurate quantification of hepatic iron overload is essential for managing patients with thalassemia major to prevent severe complications such as liver and cardiac failure. Magnetic resonance imaging (MRI) T2* has emerged as the noninvasive gold standard for assessing tissue iron concentration. This study aimed to localize and validate MRI T2* measurement protocols and to evaluate the impact of region-of-interest (ROI) selection on iron overload classification in patients with thalassemia. A cohort of 39 patients with confirmed thalassemia from Imam Ali Hospital, Zahedan, underwent liver MRI with T2* imaging. The effect of ROI variation on T2* values and patient classification was analyzed. Validation was performed using healthy volunteers and iron phantoms with known concentrations. Statistical analyses compared results with those from hospital reports and from phantom and healthy subjects. ROI selection significantly affected T2* values, resulting in reclassification in 35.9% of patients. Phantom studies demonstrated a strong linear correlation (R2 ≈ 0.98) between T2* values and iron concentration, confirming measurement accuracy. Healthy volunteers showed T2* values within normal ranges, consistent with published data. Discrepancies between hospital reports and study findings highlighted the necessity for standardized imaging protocols and automated data processing to reduce variability. ROI selection critically affects hepatic T2* measurements and the clinical classification of iron overload in patients with thalassemia. Standardized protocols, rigorous equipment calibration, and localized analytical tools are essential for enhancing diagnostic precision and patient management. This approach reduces dependence on external services and supports the provision of sustainable, high-quality care for patients with thalassemia.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"29-39"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145911123","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

Prevalence and Diagnostic Prediction of Hemoglobin Variants in Neonates: A Study from Two Indian Hospitals Using Capillary Electrophoresis and Molecular Sequencing. 新生儿血红蛋白变异的患病率和诊断预测：来自印度两家医院的毛细管电泳和分子测序研究

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2026-01-25 DOI: 10.1080/03630269.2026.2612972

Sakshi Agarwal, Somesh Kumar, Shreshta S Prabhan, Seema Kapoor, Sarika Singh, Meenakshi Bothra

{"title":"Prevalence and Diagnostic Prediction of Hemoglobin Variants in Neonates: A Study from Two Indian Hospitals Using Capillary Electrophoresis and Molecular Sequencing.","authors":"Sakshi Agarwal, Somesh Kumar, Shreshta S Prabhan, Seema Kapoor, Sarika Singh, Meenakshi Bothra","doi":"10.1080/03630269.2026.2612972","DOIUrl":"10.1080/03630269.2026.2612972","url":null,"abstract":"Hemoglobinopathies are common genetic disorders that can affect neonates. This study aimed to evaluate the prevalence of various hemoglobin variants in newborns and identify diagnostic cutoff levels for predicting homozygosity for HbS and HbD using capillary electrophoresis and molecular sequencing. A total of 2,609 newborns were screened at Lok Nayak Hospital (LNH) and Swami Dayanand Hospital (SDH) between January 2020 and October 2021. Newborns with HbA levels ≤15% or preterm deliveries were excluded. Capillary electrophoresis was performed on dried blood spot samples. Follow-up cascade screening was done for parents and siblings of positive cases, with molecular confirmation by gene sequencing. ROC curve analysis was used to determine predictive cutoff levels for homozygosity. Of 2,163 eligible neonates, 67 (3.1%) had structural hemoglobinopathies, with the most common being HbD (1.4%), followed by HbS (0.8%). Homozygous HbD, HbS, and HbE were observed. ROC curve analysis indicated that neonatal HbD levels ≥17.6% predicted homozygosity with 100% sensitivity and 96% specificity (area under the curve = 0.984), while HbS levels ≥57.4% predicted homozygosity with 100% sensitivity and 92% specificity (area under the curve = 0.917). These structural hemoglobinopathies were present in 3.1% of neonates, with HbD being the most prevalent variant. The relative levels of various types of neonatal hemoglobins can serve as reliable predictors for homozygosity, providing an effective method for early diagnosis of hemoglobinopathies in neonates.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"40-48"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146046490","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

Mild Thalassemic Effect of Heterozygous Hb Sogn in a Large Cohort from Routine Hemoglobinopathy Investigation. 在常规血红蛋白病调查的大队列中，杂合Hb son对轻度地中海贫血的影响。

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2026-01-20 DOI: 10.1080/03630269.2026.2613682

Bente Fjeld, Markus Jørgensen, Paul Kjetel Soldal Lillemoen, Kristin Holstad, Olav Klingenberg

{"title":"Mild Thalassemic Effect of Heterozygous Hb Sogn in a Large Cohort from Routine Hemoglobinopathy Investigation.","authors":"Bente Fjeld, Markus Jørgensen, Paul Kjetel Soldal Lillemoen, Kristin Holstad, Olav Klingenberg","doi":"10.1080/03630269.2026.2613682","DOIUrl":"10.1080/03630269.2026.2613682","url":null,"abstract":"Hemoglobin (Hb) Sogn is a rare Hb variant discovered in Norwegians and their descendants. Previous reports suggested no clinical symptoms in the heterozygote, but mild in vitro instability of the variant. Our recent clinical observations prompted suspicion of mild hematological abnormalities. This study aimed to evaluate hematological parameters and Hb fractions in individuals heterozygous for Hb Sogn, compared with those with Hb D-Punjab, to confirm or refute this suspicion. Data from 105 individuals with Hb Sogn and 145 with Hb D-Punjab were evaluated. Hematological parameters (Hb, RBC, MCH) and Hb fractions were compared using Mann-Whitney U tests. Different exclusion criteria were applied in the analysis for different parameters due to age- and sex-dependent reference intervals. In silico tools were used to predict pathogenicity. Individuals with Hb Sogn had lower MCH (median 28 pg vs 29 pg) and a lower variant fraction (median 33.6% vs 40.9%) compared with Hb D-Punjab. The HbA2 fraction was higher in the Hb Sogn group (median 3.3% vs 2.9%). In silico prediction suggested a functional impact of Hb Sogn but did not reveal an effect on splicing. This study, involving the largest cohort of Hb Sogn carriers to date, suggests that heterozygous Hb Sogn exhibits a mild thalassemic phenotype. These findings may explain slightly reduced MCH values in affected individuals and could reduce the need for extended α-thalassemia investigation.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"49-55"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146010159","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

Two Novel SUPT5H Variants Causing β-Thalassemia Trait Phenotypes. 两种新的SUPT5H变异导致β-地中海贫血性状表型。

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2026-01-28 DOI: 10.1080/03630269.2025.2599259

Qingfeng Xie, Tizhen Yan, Zhao Ying, Youqing Fu, Jiwu Lou

引用次数: 0

Two Novel δ-Globin Chain Variants Identified in the Chinese Population. 在中国人群中发现的两种新的δ-珠蛋白链变异。

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2026-01-08 DOI: 10.1080/03630269.2025.2603085

Zhenping Su, Rui Ji, Hui Yu

引用次数: 0

Hb Yongning [β1 (NA1) Val→Leu; HBB:C.4G > C]: A Novel Hemoglobin Variant Causing Significant Interference in Common Glycated Hemoglobin Assays. Hb永宁[β1 (NA1) Val→Leu；HBB: C。在普通糖化血红蛋白检测中引起显著干扰的一种新的血红蛋白变异。

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2026-01-02 DOI: 10.1080/03630269.2025.2609994

Li Liang, Yongguang Du, Lihong Zheng, Youqiong Li

引用次数: 0

Risk Factors for Anemia in Silent Carrier or Minor α-Thalassemia. 沉默携带者或轻微α-地中海贫血患者贫血的危险因素

IF 1 4区医学

Hemoglobin Pub Date : 2026-01-01 Epub Date: 2026-01-25 DOI: 10.1080/03630269.2026.2615739

Hui Rao, Ping Li

{"title":"Risk Factors for Anemia in Silent Carrier or Minor α-Thalassemia.","authors":"Hui Rao, Ping Li","doi":"10.1080/03630269.2026.2615739","DOIUrl":"10.1080/03630269.2026.2615739","url":null,"abstract":"Silent carrier or minor α-thalassemia (α-thal) is generally considered asymptomatic or associated with mild anemia in only a few cases. However, it is not uncommon for individuals with these conditions to seek outpatient care because of anemia. Which factors contribute to the development of anemia in this population? We retrospectively observed the individuals at a general hospital in central China, a non-endemic area for thalassemia. A total of 142 participants confirmed by thalassemia genetic testing were enrolled, including 54 cases of silent carrier and 88 cases of minor α-thal. Among the participants, 88 cases (62%) were diagnosed with anemia, as their hemoglobin (Hb) concentrations were below the lower limit of the reference range recommended by the World Health Organization (WHO) for their respective gender and age groups. Multivariate analysis of anemia revealed that the -SEA/αα genotype (P = 0.014, OR = 2.503, 95%CI: 1.203-5.204) was an independent risk factor for anemia and deserves proactive anemia management. Iron deficiency (serum ferritin <30 ng/ml) has not been identified as a risk factor, but it is found to have a high incidence (18.2%) in the anemic group and requires further investigation with a larger sample size in this population.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"56-60"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146046409","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