Hemoglobin最新文献

{"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}

{"title":"A Rare Alpha-Globin Mutation: Detailed Analysis of the Hb Rogliano Variant (α1 Cod 108 Thr→Asn).","authors":"Alifia Nur Hidayah, Indra Lesmana, Tri Ratnaningsih, Nur Imma Fatimah Harahap, Nafis Muhimmatul 'Ulya, Vincentius Sw Budhyanto, Niken Satuti Nur Handayani","doi":"10.1080/03630269.2026.2715749","DOIUrl":"https://doi.org/10.1080/03630269.2026.2715749","url":null,"abstract":"<p><p>α-Thalassemia is an autosomal recessive disorder characterized by reduced synthesis of α-globin chains, most commonly due to deletions within the α-globin gene cluster. Non-deletional variants are less common and contribute to the molecular heterogeneity of the disease. Advances in long-read sequencing have improved the analysis of complex genomic regions, including highly homologous genes such as <i>HBA1</i> and <i>HBA2</i>. Targeted long-range PCR amplification of the <i>HBA1</i> and <i>HBA2</i> genes was followed by long-read sequencing on the PromethION 24 platform (Oxford Nanopore Technologies). Subsequently, the sequencing data were analyzed and visualized using the Integrative Genomics Viewer (IGV). Long-read sequencing achieved an average depth of >390x across all target regions, enabling reliable variant detection. This analysis identified five variants in the <i>HBA1</i> and <i>HBA2</i> genes, namely <i>HBA1</i>:c.326C > A (p.Thr108Asn; Hb Rogliano), <i>HBA1</i>:c.-41C > G, <i>HBA2</i>:c0.300 + 55T > G, <i>HBA2</i>:c0.301-24delinsCTCGGCCC, and <i>HBA2</i>:c.-41C > G. Based on ClinVar classification, <i>HBA1</i>:c.326C > A (p.Thr108Asn) was categorized as likely pathogenic, while the remaining variants were classified as benign or likely benign. To our knowledge, this is the first report of Hb Rogliano in Indonesia and highlights the utility of long-read sequencing for the molecular characterization of rare α-globin variants.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-6"},"PeriodicalIF":1.0,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148766127","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":"1-6"},"PeriodicalIF":1.0,"publicationDate":"2026-08-13","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":"Screening for the 'Silent' Burden of Menstrual and Mental Health Among Women with Sickle Cell Disease: A Prospective Study.","authors":"Zachary Ramsay, Nicki Chin, Deva Sharma, Margaret Wisdom-Phipps, Leroy Campbell, Jennifer Knight-Madden, Monika Asnani","doi":"10.1080/03630269.2026.2715007","DOIUrl":"https://doi.org/10.1080/03630269.2026.2715007","url":null,"abstract":"<p><p>This study screened for major depression and generalized anxiety disorder (GAD) across the menstrual cycle among women with sickle cell disease (SCD) and examined associations with heavy menstrual bleeding (HMB), dysmenorrhea, and sex hormones. A total of 125 Jamaican women aged 18 and over with SCD, regular menses, and no recent hormonal contraceptive use completed follicular- and luteal-phase visits including serum estradiol and progesterone measurements and validated mental and menstrual health and quality-of-life questionnaires. Higher Menstrual Symptom Questionnaire and Menstrual Bleeding Questionnaire scores reflect more severe menstrual pain and menstrual heaviness, respectively, including quality-of-life impact. Menstrual scores were standardized as z-scores and odds ratios represent the change in odds per one-standard deviation change from the sample mean. Major depression and GAD were screened using the Patient Health Questionnaire-9 and Generalized Anxiety Disorder-7. Screen-positive rates for major depression and GAD were 44.8% and 39.2% with no differences between phases; and 32% reported passive self-harm ideations. Marginal mean scores were HMB 11.6 ± 4.9 (scale: 0-24) and dysmenorrhea 62.9 ± 13.5 (scale: 24-120). Worse dysmenorrhea was associated with higher odds of major depression risk (odds ratio, OR = 2.6), whereas better quality-of-life in pain (OR = 0.9) and sleep (OR = 0.8) were associated with lower odds. Severe genotypes (OR = 0.1) and better quality-of-life in stiffness (OR = 0.9) and sleep (OR = 0.9) were associated with lower odds of GAD risk. Estradiol, progesterone, and HMB showed no significant adjusted effects. The high prevalence of GAD and major depression risk, and the association between depression and dysmenorrhea suggest that routine screening is needed in this vulnerable group.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-14"},"PeriodicalIF":1.0,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148705745","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":"Precision Medicine in Transfusion-Dependent and Non-Transfusion-Dependent β-Thalassemia: Toward Personalized Diagnosis and Therapy.","authors":"Abdelrahman A Karen, Omar Tluli, Ibrahim El-Arabi Hashem, Ali Mohamed Barhoma, Mohammed Abdel Hamid, Abdulaziz Omar AlQahtani, Awni Alshurafa, Ashraf T Soliman, Afaf H Albattah, Mohamed A Yassin","doi":"10.1080/03630269.2026.2709700","DOIUrl":"https://doi.org/10.1080/03630269.2026.2709700","url":null,"abstract":"<p><p>β-thalassemia comprises a clinically heterogeneous group of disorders in which anemia severity, transfusion exposure, iron loading, and organ complications vary widely among individuals. This structured narrative review summarizes practical applications of precision medicine in transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT), with explicit attention to which strategies apply to each clinical category. Literature indexed in PubMed and Scopus from 2000 to 2025 was reviewed using terms related to thalassemia, precision medicine, magnetic resonance imaging (MRI), chelation tailoring, next-generation sequencing (NGS), fetal hemoglobin (HbF) modifiers, luspatercept, mitapivat, hepcidin, gene therapy, gene editing, and artificial intelligence (AI). Evidence was synthesized descriptively because interventions, outcomes, and populations were heterogeneous, and no pooled meta-analysis was performed. In TDT, precision care is centered on individualized transfusion planning, extended red-cell antigen matching, MRI-guided cardiac and hepatic iron monitoring, organ-directed chelation intensification, and selection of disease-modifying or curative approaches. In NTDT, precision care emphasizes accurate phenotype classification, MRI liver iron concentration, because serum ferritin may underestimate iron burden, selective chelation, surveillance for NTDT-specific complications, and individualized use of agents that improve anemia. Personalized chelation should include deferiprone, either alone or in combination, when cardiac iron is increased. Comprehensive molecular diagnosis should include <i>HBB</i> together with <i>HBA1</i> and <i>HBA2</i> assessment, while secondary and tertiary modifiers help explain phenotypic variability and complication risk. Hepcidin and growth differentiation factor 15 (GDF-15) are discussed as investigational biomarkers; transferrin saturation is not recommended for routine iron-overload assessment in thalassemia. AI currently has its strongest role in screening and diagnosis, whereas risk-stratification models remain exploratory. Equitable implementation requires standardized TDT/NTDT pathways, regional MRI and genomics access, longitudinal registries, and multidisciplinary interpretation.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-9"},"PeriodicalIF":1.0,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148701206","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 Silent Epidemic: A Scoping Review of Chronic Pain Etiology and Management Strategies in Transfusion-Dependent Thalassemia.","authors":"Abdulrahman Nasiri, Mostafa F Mohammed Saleh, Manal Alshammari, Ali Alahmari, Reem Alkharras, Fahad Almohareb, Hazza Alzahrani","doi":"10.1080/03630269.2026.2712396","DOIUrl":"https://doi.org/10.1080/03630269.2026.2712396","url":null,"abstract":"<p><p>Advances in transfusion regimens and iron chelation have transformed transfusion-dependent thalassemia (TDT) into a chronic condition, revealing chronic pain as an important but under-recognized morbidity. Despite its substantial effect on health-related quality of life, pain in TDT remains poorly characterized and is rarely addressed in clinical protocols. We systematically searched PubMed/MEDLINE, EMBASE, Scopus, Google Scholar, and the Cochrane Library from inception to January 2026 for original studies, reviews, and guidelines addressing chronic pain in TDT. Two independent reviewers screened studies, extracted data, and synthesized evidence on prevalence, pathogenesis, and management. Chronic pain affects approximately 32% to 55% of adults with TDT, and more than 90% of affected patients report moderate-to-severe pain. Its pathogenesis is multifactorial, with major contributors including thalassemia-associated osteoporosis, chelation-related arthropathy, extramedullary hematopoiesis, iron-overload-related endocrinopathies, and treatment-associated abdominal pain, particularly with deferasirox. Management remains empirical and fragmented. Bisphosphonates, including zoledronic acid, may improve skeletal pain, whereas NSAID and opioid use is often limited by hepatic and renal comorbidities. A disease-specific approach should combine correction of metabolic abnormalities, targeted anti-resorptive therapy, validated pain assessment, and cautious pharmacological treatment. Chronic pain is a major but neglected component of the contemporary TDT phenotype. Randomized trials and standardized clinical guidelines are needed to support effective pain management and improve quality of life.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-9"},"PeriodicalIF":1.0,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148678608","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":"Identification of a Novel Compound Heterozygous <i>SEC23B</i> in a Chinese Child with Congenital Dyserythropoietic Anemia Type II.","authors":"Ya-Fang Li, Ti-Long Huang, Tian-Yao Zhang, Chun-Yan Song, Zhong-Yu Shi, Yun-Bi Lin, Xian-Wen Zhang","doi":"10.1080/03630269.2026.2708944","DOIUrl":"https://doi.org/10.1080/03630269.2026.2708944","url":null,"abstract":"<p><p>Congenital dyserythropoietic anemia type II (CDA II) is a rare hyporegenerative inherited anemia, resulting from a mutation in <i>SEC23B</i>. In the present case, our patient exhibited moderate anemia, jaundice, hepatosplenomegaly, tea-colored urine, hyperbilirubinemia, and iron overload. Whole exome sequencing revealed that the patient carried a compound heterozygous genotype in <i>SEC23B</i> consisting of a previously unreported missense variant c.181T > C (p.C61R) and a known pathogenic variant c.1832G > A (p.R611Q). Bone marrow aspirate demonstrated erythroid hyperplasia with abnormal erythroblast morphology. Bioinformatic analysis predicted the protein structures, indicating that p.C61R and p.R611Q mutations induce structural changes in their surrounding regions. <i>SEC23B</i> mRNA and protein levels in peripheral blood mononuclear cells (PBMCs) were significantly reduced compared with those in normal control cells, supporting their pathogenicity. Accordingly, a diagnosis of CDA II was considered. In this study, we identified a compound heterozygous <i>SEC23B</i> genotype in the patient and demonstrated that missense mutations of p.C61R and p.R611Q resulted in reduced levels of SEC23B mRNA and protein, suggesting the association of this genotype with CDA II.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668476","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":"Low Prevalence of the <i>HBB</i> c.20A > T (HbS) Allele in a Turkish Cypriot Cohort: A Molecular Screening Study.","authors":"Emine Kandemis, Saadatu Sani Sulamain, Havva Cobanogullari, Umut Fahrioglu, Mahmut Cerkez Ergoren","doi":"10.1080/03630269.2026.2709697","DOIUrl":"https://doi.org/10.1080/03630269.2026.2709697","url":null,"abstract":"<p><p>Sickle cell disease is caused by the <i>HBB</i> c.20A > T (p.Glu6Val; HbS) variant. Although Cyprus has a long-standing hemoglobinopathy prevention program, current population-specific data on HbS among Turkish Cypriots remain limited. Two hundred unrelated Turkish Cypriot adults were included. The <i>HBB</i> c.20A > T variant was genotyped by PCR-RFLP and confirmed by allele-specific real-time PCR. Genotype distribution was evaluated for Hardy-Weinberg equilibrium. No homozygous HbS genotype was detected. Three individuals were heterozygous carriers (AS), corresponding to a carrier frequency of 1.5%. The HbS allele frequency was 0.7%, and the genotype distribution was consistent with Hardy-Weinberg equilibrium (<i>p</i> = 0.916; chi-square = 0.011). HbS was uncommon in this Turkish Cypriot cohort. These findings support continued hemoglobinopathy surveillance and the integration of HbS counseling into existing premarital and population screening strategies, particularly as migration may alter local carrier frequencies over time.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-4"},"PeriodicalIF":1.0,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148669197","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":"α- and β-Thalassemia Show Distinct Bone Microarchitectural Phenotypes in Southeast Asian Adults: Associations with Marrow Expansion Phenotype.","authors":"Nattiya Teawtrakul, Dueanchonnee Sribenjalak, Daris Theerakulpisut, Nipith Charoenngam, Chatlert Pongchaiyakul","doi":"10.1080/03630269.2026.2708953","DOIUrl":"10.1080/03630269.2026.2708953","url":null,"abstract":"<p><p>Bone disease is well recognized in β-thalassemia, but bone microarchitecture in α-thalassemia remains poorly characterized. We prospectively studied 86 adults with thalassemia at a tertiary center in northeast Thailand: 16 with α-thalassemia and 70 with β-thalassemia. Lumbar spine (LS) and femoral neck bone mineral density (BMD) and trabecular bone score (TBS) were measured using the same DXA platform. A prespecified Marrow Expansion Phenotype Score (MEPS; 0-3), comprising thalassemic facies, scoliosis, and hepatomegaly, served as an exploratory marker of chronic ineffective erythropoiesis. Sequential linear regression assessed attenuation of genotype effects after adjustment for transfusion-dependent thalassemia status and MEPS. Compared with β-thalassemia, α-thalassemia was associated with higher LS BMD (0.822 ± 0.130 vs. 0.754 ± 0.117 g/cm²; <i>p</i> = 0.039), higher LS Z-score (-1.27 ± 0.65 vs. -1.99 ± 0.99; <i>p</i> = 0.009), and a trend toward higher TBS (1.318 ± 0.102 vs. 1.255 ± 0.128; <i>p</i> = 0.071). Low LS Z-score (<-2) was less frequent in α-thalassemia (12.5% vs. 45.7%; <i>p</i> = 0.021). Mean MEPS was lower (0.88 ± 0.62 vs. 1.84 ± 0.88; <i>p</i> < 0.001). Genotype associations with TBS, LS BMD, and LS Z-score persisted after adjustment for transfusion status but were attenuated and no longer significant after MEPS adjustment. Ferritin adjustment did not materially change the estimates but cannot exclude effects of total iron burden. Adults with α-thalassemia had better lumbar bone density and microarchitecture than those with β-thalassemia. Attenuation after MEPS adjustment is consistent with, but does not prove, a role for marrow-expansion phenotype. Formal mediation was not performed. Given the small α-thalassemia group, these findings are exploratory and require replication.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-13"},"PeriodicalIF":1.0,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148630251","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":"https://doi.org/10.1080/03630269.2026.2707629","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-3"},"PeriodicalIF":1.0,"publicationDate":"2026-07-31","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}