Hemoglobin最新文献

{"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":"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":"https://doi.org/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":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2026-09-03","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}

{"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":"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":"https://doi.org/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":"1-10"},"PeriodicalIF":1.0,"publicationDate":"2026-08-24","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":"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}