Hemoglobin最新文献

{"title":"Association Between IL-10 and Serum Hepcidin in Patients with β-Thalassemia Major: A Case-Control Study Using Multiple Statistical Modeling.","authors":"Dana Taha Mohammed Salih, Hevi Jawhar Hameed, Hemn Anwar Mohammed, Idrees Mohammed Ahmed","doi":"10.1080/03630269.2026.2707428","DOIUrl":"10.1080/03630269.2026.2707428","url":null,"abstract":"<p><p>β-thalassemia major is a chronic, transfusion-dependent disorder marked by severe iron overload and systemic inflammation. However, the interplay among inflammatory cytokines, iron chelation therapy, and hepcidin regulation remains incompletely understood. In this case-control study, 140 participants (100 patients, 40 healthy controls) were examined for associations between inflammatory and biochemical parameters and serum hepcidin. Hematological and biochemical parameters, inflammatory cytokines (IL-10 and TNF-α), and serum hepcidin levels were evaluated using nonparametric tests, Spearman's correlation, and bootstrapped multiple linear regression, with adjustment for serum ferritin, hemoglobin, TNF-α, and age to account for potential confounding. Patients had significantly higher levels of ferritin, liver enzymes, blood glucose, inflammatory cytokines, and hepcidin than controls (p < 0.05). IL-10 and hepcidin showed a strong positive correlation (r = 0.838, p < 0.001). Bootstrapped Multiple regression showed that IL-10 was significantly associated with serum hepcidin in the adjusted model (B = 1.078, 95% CI: 0.876-1.288, p < 0.001), whereas ferritin was not independently associated with hepcidin. The model explained 74.2% of the variance (Adjusted R² = 0.742). Moreover, significant variations in these parameters were observed across iron chelation therapy groups. These findings suggest a potential association between inflammatory activity and hepcidin-related iron regulation in β-thalassemia major, but longitudinal studies are needed to clarify the clinical relevance of this relationship.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"423-433"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148630248","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":"The Need for Standardization of MRI Methods for Measuring LIC for the Management of Iron Overload in Patients with Hemoglobinopathies.","authors":"Nandini Sadasivam, Manish Motwani, Devinda Karunaratne, Ivan Carrion, Tim St Pierre","doi":"10.1080/03630269.2026.2707629","DOIUrl":"10.1080/03630269.2026.2707629","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"473-475"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148630216","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":"Gender Pattern of Thyroid Dysfunction Among Patients with Beta-Thalassemia Intermedia: A Cross-Sectional Study from Yasuj, Iran.","authors":"Fariba Rad, Bahram Ansarian","doi":"10.1080/03630269.2026.2713647","DOIUrl":"10.1080/03630269.2026.2713647","url":null,"abstract":"<p><p>Although thyroid dysfunction (TD) is a known complication in patients with thalassemia major, data on patients with β thalassemia intermedia (βTI) are limited. Therefore, this study was conducted to investigate the prevalence and gender pattern of TD in βTI in Yasuj city. In this cross-sectional analytical study, 200 eligible patients with βTI were selected by the census method. Serum levels of triiodothyronine (T3), thyroxine (T4), and thyroid-stimulating hormone (TSH) were quantified using enzyme-linked immunosorbent assay (ELISA). Data were analyzed using SPSS version 27 at a significance level of 0.05. Of the 200 patients, 90 (45%) were male, and 110 (55%) were female, with a mean age of 34.6 ± 11 years. The mean serum levels of T3, T4, and TSH were 1.74 ± 0.53 ng/ml, 7.99 ± 1.6 µg/dl, and 3.23 ± 1.83 µIU/ml, respectively. The overall prevalence of hypothyroidism was 6.0% (<i>n</i> = 12), comprising 5.5% (<i>n</i> = 11) subclinical and 0.5% (<i>n</i> = 1) primary hypothyroidism. A significant gender-based difference was observed in hormone levels: women exhibited higher mean T3 (1.81 vs. 1.66 ng/ml, p = 0.04) and T4 (8.25 vs. 7.7 µg/dl, p = 0.01) compared to men. However, no significant gender disparity was found in TSH levels. T3 and T4 hormone levels are higher in female patients with βTI compared to males. The presence of hypothyroid cases underscores the necessity for regular monitoring of thyroid function in these patients, particularly within the framework of iron overload management. Timely diagnosis and treatment can improve clinical outcomes.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"447-452"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148759251","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":"Tailoring Genetic Approaches for Easier Detection of Anti-3.7 Alpha-Globin Gene Triplication in the Iranian Population.","authors":"Samin Esmaeilian, Fatemeh Askarian-Sardari, Elham Siasi Torbati, Parisa Haghpour, Mina Hayat-Nosaeid, Morteza Karimipoor, Elham Davoudi-Dehaghani","doi":"10.1080/03630269.2026.2718854","DOIUrl":"https://doi.org/10.1080/03630269.2026.2718854","url":null,"abstract":"<p><p>In β-thalassemia carriers, the presence of one or two extra copies of the α-globin genes may exacerbate clinical manifestations and lead to a more severe phenotype than would normally be expected. Given the high prevalence of thalassemia in Iran and the limited number of studies on ααα^anti-3.7, the aim of this study was to conduct a population-based study in Iran and to develop a practical, cost-effective method to detect the most common ααα^anti-3.7 variants in the Iranian population. A total of 110 individuals with β-thalassemia minor whose hematological parameters were below the mean of the study population were analyzed for the ααα^anti-3.7 triplication, which was characterized in six carriers by MLPA. Based on these data, a novel PCR test was developed to detect the most common ααα^anti-3.7 variants and was evaluated using samples with known genotypes. Among β-thalassemia minor carriers with below-average hematological parameters, the frequency of ααα^anti-3.7 carriers was 5.5% (6/110). MLPA analysis identified D and F as the ααα^anti-3.7 variants in Iranian carriers. The newly developed PCR method successfully identified the triplication in all positive samples. This study provides a foundation for large-scale epidemiological investigations of the ααα^anti-3.7 triplication in Iran. The developed method has the potential for routine diagnostic screening of ααα^anti-3.7 in the Iranian population.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148864168","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":"The Efficiency of Capillarys 2 Flex Piercing, Premier Resolution-HPLC, and VARIANT II-HPLC for Hemoglobin Constant Spring Detection.","authors":"Thanathip Chaisonying, Wachiraporn Mongkham, Nathaphon Chaemmanee, Chedtapak Ruengdit, Manoo Punyamung, Wibhasiri Srisuwan, Sakorn Pornprasert","doi":"10.1080/03630269.2026.2723417","DOIUrl":"https://doi.org/10.1080/03630269.2026.2723417","url":null,"abstract":"<p><p>Hemoglobin Constant Spring (HbCS) is the most common non-deletional α-thalassemia mutation in Southeast Asia (SEA) and is frequently missed during routine Hb analysis because of its extremely low expression in peripheral blood. This study aims to evaluate the efficacy of three hemoglobin analysis systems: Capillarys 2 Flex Piercing (CE), Premier Resolution (PR)-HPLC, and VARIANT II-HPLC for the detection of HbCS. A total of 40 EDTA blood samples suspected of carrying HbCS were analyzed. Hb analysis was performed using the three analytical systems, while molecular confirmation of Hb CS/Paksé (PS) mutations was carried out using multiplex AS-PCR. In addition, α⁰-thalassemia deletions (-^SEA, -^THAI, and -^CR) were identified using real-time PCR with high-resolution melting analysis. Four Hb typing patterns were identified: CSA₂A (<i>n</i> = 26), CSA₂ABart'sH (<i>n</i> = 8), CSEABart's (<i>n</i> = 4), and CSEA (<i>n</i> = 2). Molecular analysis confirmed the presence of the HbCS mutation in all 40 samples. The correct identification rates were 90.0% for CE and 87.5% for both PR-HPLC and VARIANT II-HPLC. Misidentification occurred most frequently in the CSA₂A group, likely due to the extremely low proportion of HbCS in individuals without co-inherited α-thalassemia. In addition, PR-HPLC misidentified HbCS in one sample from each of the CSA₂ABart'sH, CSEABart's, and CSEA groups. These findings suggest that CE provides higher efficiency than HPLC systems for detection of HbCS. However, molecular confirmation remains essential for accurate diagnosis.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-7"},"PeriodicalIF":1.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148864528","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":"Microcytic Anemia with Low HbA₂ and Normal HbA: Two Cases of Rare Thalassemia.","authors":"Aban Bahabri, Munira Alsadhan, Rand Alrefaie, Omar AlMugren","doi":"10.1080/03630269.2026.2722074","DOIUrl":"https://doi.org/10.1080/03630269.2026.2722074","url":null,"abstract":"<p><p>Thalassemia is a relatively common genetic blood disorder, diagnosed based on characteristic hemoglobin electrophoresis patterns, along with clinical and hematological findings. Here we present two siblings who were incidentally found to have persistent microcytic anemia (hemoglobin levels of 10.7 g/dL and 10.1 g/dL) despite normal ferritin levels. Initial hemoglobin electrophoresis showed an abnormal, non-diagnostic pattern with markedly reduced or absent HbA₂ (0-0.9%), mildly elevated HbF (1.9-2.2%), and normal HbA (∼97%). Finally, genetic testing revealed homozygous Hb Knossos (<i>HBB</i> c.82G > T; p.Ala28Ser) and a concurrent homozygous delta-globin gene frameshift mutation (<i>HBD</i> c.179del; p.Lys60Argfs*2). These cases highlight a distinctive hemoglobin electrophoresis pattern resulting from the co-inheritance of Hb Knossos and delta-globin gene mutations and describe the phenotypic presentation of this rare thalassemia genotype. Awareness of this combination is essential to avoid misdiagnosis and underscores the importance of genetic testing in patients with unexplained microcytic anemia.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-6"},"PeriodicalIF":1.0,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148827525","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":"Beta Thalassemia Carrier Detection in Individuals with Borderline Normal Hemoglobin A₂ Levels.","authors":"Hareem Alam, Zeeshan Ansar, Fatima Farhan, Bushra Moiz, Muhammad Shariq Shaikh","doi":"10.1080/03630269.2026.2718855","DOIUrl":"https://doi.org/10.1080/03630269.2026.2718855","url":null,"abstract":"<p><p>Transfusion-dependent β-thalassemia is a significant public health challenge in many countries. Prevention through carrier detection enables counseling for at-risk couples and informed decision-making. Beta-thalassemia carriers are identified by elevated hemoglobin A₂ levels (≥3.6%). However, individuals with borderline HbA₂ levels of 3.0-3.5% fall within a diagnostic gray zone. Identifying carriers in this group is crucial given the significant medical, financial, and psychosocial implications. Therefore, this study aimed to identify β-thalassemia carriers among individuals with borderline hemoglobin A₂ levels to enhance early detection and provide accurate clinical guidance for this population. Samples received for thalassemia screening by HPLC at Aga Khan University Clinical Laboratories were assessed. Those with HbA₂ levels of 3.0-3.5% were included, excluding individuals with iron deficiency. Informed consent was obtained for β-globin gene sequencing. HbA₂ was measured by HPLC, and pathogenic mutations identified by DNA sequencing were correlated with phenotype using the Hemoglobin Variant Database. Data were analyzed using SPSS. From July 2022 to December 2024, 85 individuals with borderline HbA₂ levels were identified. After excluding those with iron deficiency, 55 participants (median age 24 years; 54.5% female) were included in the analysis. Heterozygous β-globin mutations were detected in 6 cases (10.9%), most commonly CAP + 1 (A > C). No significant hematological differences were observed between mutation-positive and mutation-negative groups, and no mutations were found in individuals with HbA₂ <3.2%. In our study, β-thalassemia trait mutations were detected in 10.9% of subjects with borderline HbA₂ levels, underscoring the need to investigate such cases at the molecular level to avoid missing individuals at risk.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-6"},"PeriodicalIF":1.0,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148808514","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 Decade‑Long Genetic Epidemiological Profile of Thalassemia in the Childbearing‑Age Population of Huizhou, a Major Hakka Center in Guangdong, China.","authors":"Hai-Lin He, Zhi-Yang Guan, Ze-Yan Zhong, Guo-Xing Zhong, Kun-Xiang Yang, Di-Na Chen, Zhi-Yong Wu, Zhi-Bang Xu, Jian-Hong Chen, Yan-Hui Liu","doi":"10.1080/03630269.2026.2718408","DOIUrl":"https://doi.org/10.1080/03630269.2026.2718408","url":null,"abstract":"<p><p>This retrospective study established the first comprehensive genetic epidemiological profile of thalassemia in the childbearing‑age population (n = 343,580) of Huizhou, a major Hakka center in Guangdong, China, over a decade (2015-2024). The overall carrier rate was 12.23%, comprising 8.04% α‑thalassemia, 3.58% β‑thalassemia, and 0.60% concurrent α‑ and β‑thalassemia. The α‑thalassemia spectrum was dominated by the --^SEA deletion (71.11%), while the β‑thalassemia profile featured a distinctive local signature with significantly elevated frequencies of β‑28 (A > G), βCD41‑42, and βIVS‑II‑654. HbH disease was identified in 698 individuals (0.20%), with genotypes --^SEA/-α^3.7 (428), --^SEA/-α^4.2 (146), --^SEA/α^WSα (98), and --^SEA/α^CSα (26). Rare variants included SEA‑HPFH (162, 0.047%) and Chinese ^Gγ+(^Aγδβ) 0 δβ‑thalassemia (145, 0.042%); co‑inheritance with β‑thalassemia occurred in 2.47% of SEA‑HPFH carriers and 1.38% of δβ‑thalassemia carriers. Hematological characterization across common genotypes revealed a clear severity gradient: --^SEA/αα carriers exhibited the most marked microcytic hypochromia, while α^WSα/αα and β^CD26/β^N (HbE) carriers showed the mildest phenotypes, highlighting inter‑genotypic heterogeneity with direct implications for genetic counseling. Geographic analysis revealed widespread core genotypes alongside spatially clustered rare alleles. Based on these integrated molecular and hematological findings, we propose a pragmatic two‑tiered prevention strategy: primary high‑throughput screening focused on five core genotypes, followed by mandatory reflex comprehensive genotyping for high‑risk subgroups and a dedicated diagnostic pathway for complex cases, tailored to enhance diagnostic accuracy and reduce severe thalassemia incidence in this region.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-9"},"PeriodicalIF":1.0,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148808509","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":"Incidence and Laboratory Differentiation of Hb S/D-Punjab and Hb S/Korle-Bu in Newborn Screening in Minas Gerais, Brazil: A 10-Year Prospective Study.","authors":"Lucas Campos Pereira, Patrícia Karla Fontes Bergerhoff, Roberto Vagner Puglia Ladeira, José Nelio Januario, Marcos Borato Viana","doi":"10.1080/03630269.2026.2718410","DOIUrl":"https://doi.org/10.1080/03630269.2026.2718410","url":null,"abstract":"<p><p>HbSD hemoglobinopathy is considered a rare condition worldwide, and the FSD pattern detected by isoelectric focusing (IEF) during newborn screening is uncommon. Previous studies have demonstrated that newborns with this pattern may present distinct clinical outcomes depending on the associated variant. This study aimed to estimate the incidence of Hb S/D-Punjab and Hb S/Korle-Bu in Minas Gerais, Brazil, and to characterize their laboratory profiles using IEF and high-performance liquid chromatography (HPLC). Between January 2015 and December 2024, 2,177,336 newborns were screened. Ten cases of Hb S/D-Punjab and nine of Hb S/Korle-Bu were identified, corresponding to an overall incidence of the FSD pattern in IEF of 1:114,000 newborns. Both genotypes exhibited the FSD pattern by IEF; however, HbD-Punjab showed slightly more anodic migration than Hb Korle-Bu. By HPLC, HbD-Punjab eluted in the HbD window, whereas Hb Korle-Bu eluted in the HbA₂/E window, allowing clear differentiation. Given the distinct clinical implications of these genotypes, accurate identification during newborn screening is essential to ensure appropriate clinical follow-up.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-3"},"PeriodicalIF":1.0,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148792527","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":"Hemoglobin P-Nilotic in an Indian Male: Expanding the Geographic Distribution of a Rare Hemoglobin Variant.","authors":"Tuphan Kanti Dolai, Ekta Jajodia, Kaustav Ghosh","doi":"10.1080/03630269.2026.2718857","DOIUrl":"https://doi.org/10.1080/03630269.2026.2718857","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-4"},"PeriodicalIF":1.0,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148792441","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}