Hemoglobin最新文献

{"title":"Psychometric Performance of the Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me) in Jamaicans with Sickle Cell Disease.","authors":"Nicki Chin, Antoinette Barton-Gooden, Monika Parshad-Asnani","doi":"10.1080/03630269.2026.2717272","DOIUrl":"https://doi.org/10.1080/03630269.2026.2717272","url":null,"abstract":"<p><p>The Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me), developed in the USA, assesses disease-specific health-related quality of life in adults with sickle cell disease (SCD). This study aims to evaluate the psychometric properties of ASCQ-Me for use among adults with SCD in Jamaica. Cronbach's α assessed the internal consistency reliability of each ASCQ-Me impact domain. Convergent validity was evaluated using Pearson's correlations between ASCQ-Me impact scores and the previously validated 36-item short-form health survey (SF-36 version 2) scale and component summary scores. Known-groups validity was examined using t-tests comparing ASCQ-Me impact scores between study-designated more-severe and less-severe disease groups. Confirmatory factor analysis (CFA) using structural equation modeling was conducted to investigate the construct validity of the ASCQ-Me. The study enrolled 366 adult participants (60.1% females; mean age 34.5 ± 12.2 years; 74.6% SS). Cronbach's α (range: 0.80-0.94) indicated excellent consistency across all ASCQ-Me impact domains. Pearson's correlations tested were all statistically significant (<i>p</i>-value < 0.01), except for the ASCQ-Me sleep impact with the SF-36 physical component summary. Persons with 'less severe disease' scored higher on ASCQ-Me impact in all five domains than those with 'more severe disease.' On CFA, the standardized coefficients for all items ranged from 0.61 to 0.95, with <i>p</i>-values < 0.001. All model fit indices showed moderate fit (Comparative Fit Index: 0.915; Tucker-Lewis Index: 0.904; Root Mean Squared Error of Approximation: 0.076; and Standardized Root Mean Square Residual: 0.047). The study confirms the ASCQ-Me is a reliable and valid tool for use in Jamaica.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-7"},"PeriodicalIF":1.0,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148919776","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":"Hematologic Indices of Hemoglobin D Co-Inheritance with α and β Thalassemia: A Comparative Study of 202 Patients.","authors":"Ilia Mirzaei, Majid Naderi, Abolfazl Parsi-Moud, Saeedeh Yaghoubi","doi":"10.1080/03630269.2026.2722072","DOIUrl":"https://doi.org/10.1080/03630269.2026.2722072","url":null,"abstract":"<p><p>To characterize the hematologic effects of hemoglobin D (HbD) alone and in the presence of co-inherited α- or β-thalassemia, and to quantify associations with anemia, microcytosis, and hypochromia relative to normal-CBC controls. This retrospective comparative study included 202 adults with molecularly confirmed HbD-Punjab, HbD only (<i>n</i> = 79), HbD plus β-thalassemia (<i>n</i> = 78), and HbD plus α-thalassemia (<i>n</i> = 45), and 100 normal-CBC controls. Hematologic indices were compared using Welch's one-way ANOVA or the Kruskal-Wallis test, with appropriate post hoc analyses. Case-control analyses evaluated anemia (Hb <12 g/dL), microcytosis (MCV <80 fL), and hypochromia (MCH <26 pg). A post hoc analysis used sex-specific anemia thresholds. WBC, RBC, Hb, MCV, MCH, HCT, and MCHC differed across the four groups (all <i>p</i> ≤ 0.002), whereas HCT did not (<i>p</i> = 0.523). HbD plus β-thalassemia had the lowest MCV (65.67 ± 6.85 fL) and MCH (21.12 ± 2.55 pg), which were significantly lower than in the HbD-only and HbD plus α-thalassemia groups (all <i>p</i> < 0.01). Hemoglobin did not differ significantly among the three HbD subgroups. Compared with controls, anemia was associated with HbD only (OR = 8.3, 95% CI 3.22-25.74), HbD plus β-thalassemia (OR = 11.9, 95% CI 4.68-36.59), and HbD plus α-thalassemia (OR = 11.5, 95% CI 4.16-37.68). Microcytosis and hypochromia also differed significantly between HbD groups and controls (Fisher's exact <i>p</i> < 0.001). Sex-specific sensitivity analyses preserved all associations with anemia. β-Thalassemia co-inheritance produced the most pronounced microcytic-hypochromic phenotype, whereas α-thalassemia had a less pronounced effect. HbD alone was associated with relatively mild changes in red-cell indices, but co-inherited thalassemia, particularly β-thalassemia, substantially altered the hematologic phenotype. Integrated hematologic, electrophoretic, and molecular assessment is important for accurate classification.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-9"},"PeriodicalIF":1.0,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148880052","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 E Associated with Hemoglobin Constant Spring: Diagnostic Challenges in Heterozygous and Homozygous States.","authors":"Paloma Ropero, Silvia Escribano, Mariola Abío, Belén Ortega Montero, Fernando Ataulfo González, Jorge Martínez Nieto, Celina Benavente","doi":"10.1080/03630269.2026.2723419","DOIUrl":"https://doi.org/10.1080/03630269.2026.2723419","url":null,"abstract":"<p><p>Hemoglobin E (HbE) is a common structural hemoglobin variant with a β⁺-thalassemic effect. Hemoglobin Constant Spring (HbCS) is the most prevalent non-deletional α-thalassemia variant and is characterized by low expression and marked instability, making detection difficult. The coexistence of both variants may produce atypical hematologic and electrophoretic profiles, complicating diagnosis. We describe two patients with combined HbE and HbCS: a 12-month-old girl heterozygous for HbE and a 58-year-old man homozygous for HbE. Both presented with microcytosis and characteristic patterns on capillary electrophoresis and high-performance liquid chromatography, which were performed simultaneously as part of routine diagnostic testing. Molecular analysis using StripAssay, MLPA (multiplex ligation-dependent probe amplification), and next-generation sequencing (NGS) confirmed heterozygous HbCS in both cases, with no additional alterations in the α- and β-globin gene clusters. The association of HbE and HbCS poses significant diagnostic challenges. These cases highlight the limitations of phenotypic techniques used in isolation and underscore the value of an integrated diagnostic approach that incorporates complementary molecular methods, such as NGS-based platforms.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-7"},"PeriodicalIF":1.0,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148879980","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":"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":"453-460"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","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":"Pain Assessment and Management in Patients with Beta-Thalassemia Major: A Systematic Review.","authors":"Bahareh Ahmadian, Monir Ramezani","doi":"10.1080/03630269.2026.2708907","DOIUrl":"10.1080/03630269.2026.2708907","url":null,"abstract":"<p><p>In recent years, pain has become a common and emergent complication in patients with β-thalassemia major. This systematic review investigates the assessment and management of pain in patients with β-thalassemia major. The Medline (via PubMed), Cochrane Library, and Web of Science databases were searched electronically in English up to September 2, 2023, using Mesh-based keywords. Two independent reviewers screened all titles and abstracts of articles using eligibility criteria and excluded repetitive, irrelevant, and qualitative articles. The review included cross-sectional studies, case-control studies, randomized trials, and systematic reviews on pain assessment or management in patients with β-thalassemia major. The quality of the studies was investigated using JBI checklists. 17 studies were included in this study. 12 studies assessed pain including the prevalence (6 studies), severity (4 studies), location (2 studies), related factors (7 studies), causes of pain (1 study), and interference with quality of life (6 studies). 5 studies investigated the use of pharmacological pain management. However; we could not find any studies examining non-pharmacological pain treatment for patients with β-thalassemia major. Further research is needed to comprehensively explore and expand our knowledge of how to properly assess and manage pain in these patients. This will enable us to establish a baseline health status and evaluate future improvements in care and health-related quality of life. The first limitation of this study is that it did not consider other databases. Additionally, the heterogeneity of the included studies, even when the bias assessment is considered.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"395-404"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148808441","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":"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":"414-422"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","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":"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":"434-446"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","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":"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":"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":"405-413"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","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":"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":"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":"461-464"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","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":"An Unusual Presentation of Erythrocytosis Resulting in the Identification of a Novel Unstable Hemoglobin Variant: Hb Koskullskulle <i>HBB</i>: C.311T > C (p.Phe104Ser).","authors":"Malin Hultcrantz, Britta Landin","doi":"10.1080/03630269.2026.2703226","DOIUrl":"10.1080/03630269.2026.2703226","url":null,"abstract":"<p><p>Elevated hemoglobin (Hb) concentration, erythrocytosis, is a common phenomenon that can be caused by primary or secondary underlying conditions. In this report, we describe a previously unknown mutation in the β globin gene resulting in high Hb concentrations combined with elevated reticulocytes in two family members spanning two generations. In the index patient the variant was first noted during HbA1c monitoring. While both ion-exchange chromatograms used for HbA1c analysis and isoelectric focusing indicated the presence of a β globin variant, the chromatographic method used for hemoglobinopathy screening mostly failed to detect the variant. Mass spectrometry demonstrated a -60 Da β globin variant and Sanger sequencing revealed a previously unknown p.Phe104Ser substitution in the <i>HBB</i> gene [<i>HBB:</i>c.311T > C]. This mutation affects the interaction with heme and results in increased oxygen affinity as well as instability. Common causes of acquired as well as congenital erythrocytosis were ruled out. This novel variant was named Hb Koskullskulle (IthaID 4114) from the place of origin of the family in which it was found.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"465-472"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148880059","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}