IF 1 4区医学

Hemoglobin Pub Date : 2026-05-06 DOI: 10.1080/03630269.2026.2664203

Mariana Raviola, Georgina Maroni, Arianna Pratti, German Alejandro Detarsio, María Ángela Cherichetti, María Victoria Schoepf, Osvaldo Stefan Gaggioli, Daniela Bonavita, Paulina Casesi, Mara Ojeda

{"title":"Hemoglobin Evans Associated with HBA1 Mutation: First Report from Rosario, Argentina.","authors":"Mariana Raviola, Georgina Maroni, Arianna Pratti, German Alejandro Detarsio, María Ángela Cherichetti, María Victoria Schoepf, Osvaldo Stefan Gaggioli, Daniela Bonavita, Paulina Casesi, Mara Ojeda","doi":"10.1080/03630269.2026.2664203","DOIUrl":"https://doi.org/10.1080/03630269.2026.2664203","url":null,"abstract":"Hemoglobin Evans is a rare, unstable α-chain variant resulting from a valine-to-methionine substitution at codon 62 (E11) of the α-globin gene, previously reported only in HBA2. We describe the first documented case involving the HBA1 gene (HBA1:c.187G > A), identified in a 3-year-old boy who was evaluated for persistent anemia. Laboratory findings revealed hemolytic anemia with low haptoglobin, a negative Coombs test, anisopoikilocytosis, basophilic stippling, and Heinz bodies. The isopropanol instability test was positive in the patient, his father, and his sister, while molecular analysis confirmed heterozygosity for the HBA1:c.187G > A variant in all three family members. This substitution, located in the heme crevice, likely disrupts heme binding and reduces hemoglobin stability, leading to hemolysis. The clinical phenotype was consistent with mild chronic hemolytic anemia, potentially related to the lower transcriptional activity of HBA1 compared with HBA2. This report expands the molecular spectrum of unstable hemoglobins and underscores the importance of α-globin gene analysis in the evaluation of unexplained hemolytic anemia.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-4"},"PeriodicalIF":1.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Beyond Diagnosis: A Systematic Review of Artificial Intelligence and Deep Learning in Monitoring Iron Overload and Organ Toxicity in Beta-Thalassemia. 超越诊断：人工智能和深度学习在监测-地中海贫血中铁超载和器官毒性方面的系统综述。

IF 1 4区医学

Hemoglobin Pub Date : 2026-05-06 DOI: 10.1080/03630269.2026.2653733

Abdulrahman Nasiri, Mostafa F Mohammed Saleh, Manal Alshammari, Ali Alahmari, Reem Alkharras, Fahad Almohareb

{"title":"Beyond Diagnosis: A Systematic Review of Artificial Intelligence and Deep Learning in Monitoring Iron Overload and Organ Toxicity in Beta-Thalassemia.","authors":"Abdulrahman Nasiri, Mostafa F Mohammed Saleh, Manal Alshammari, Ali Alahmari, Reem Alkharras, Fahad Almohareb","doi":"10.1080/03630269.2026.2653733","DOIUrl":"https://doi.org/10.1080/03630269.2026.2653733","url":null,"abstract":"Transfusion-dependent β-thalassemia (B-TM) is complicated by progressive iron overload, remaining a primary cause of organ toxicity and mortality despite chelation therapy advances. Accurate monitoring of hepatic and cardiac iron levels is crucial. Traditional methods, like serum ferritin and magnetic resonance imaging (MRI) T2* relaxometry, improved outcomes but suffer from biological variability, operator dependence, and reduced precision in severe iron overload. Artificial intelligence (AI), machine learning (ML), and deep learning (DL) show promise in overcoming these limitations by automating image analysis, enhancing measurement precision, and enabling earlier detection of organ damage. This systematic review examines current evidence on AI and DL applications for monitoring iron overload and organ toxicity in B-TM patients. A search of PubMed, Scopus, and Web of Science identified studies (2019-January 2026) using AI-based models to evaluate liver iron concentration, myocardial iron concentration, or iron-related complications. Eight studies met the inclusion criteria. Most focused on DL-driven analysis of MRI R2*/T2* data for hepatic and cardiac iron assessment. These demonstrated improved segmentation accuracy, decreased interobserver variability, and better performance in severe iron overload. Additionally, ML models utilizing clinical data effectively predicted skeletal issues. While reported performance metrics were generally positive, most studies were retrospective, single-center, and lacked external validation, resulting in a high risk of bias. AI and DL approaches hold significant potential to transform iron overload monitoring in β-thalassemia. However, prospective multicenter validation, standardized reporting, and explainable AI are strictly required before these technologies can be adopted for routine clinical use.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-9"},"PeriodicalIF":1.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hyperbaric Oxygen Therapy in Sickle Cell Disease: A Narrative Review of Mechanisms, Clinical Applications, and Future Directions. 高压氧治疗镰状细胞病：机制、临床应用和未来方向的叙述综述。

IF 1 4区医学

Hemoglobin Pub Date : 2026-04-23 DOI: 10.1080/03630269.2026.2658568

Awni Alshurafa, Mohammed Abdulgayoom, Jamil R Wafi, Tarek Abouzeid, Jaffer Altooq, Mohamed A Yassin

引用次数: 0

miR-192-5p as a Potential Diagnostic Biomarker for β-Thalassemia and Its Regulatory Mechanism via Targeting BCL11A. miR-192-5p作为β-地中海贫血的潜在诊断生物标志物及其通过靶向BCL11A的调控机制

IF 1 4区医学

Hemoglobin Pub Date : 2026-04-15 DOI: 10.1080/03630269.2026.2639504

Juyi Gao, Yanwen Li, Weidan Li, Shasha Li, Shaoyun Li

{"title":"miR-192-5p as a Potential Diagnostic Biomarker for β-Thalassemia and Its Regulatory Mechanism via Targeting BCL11A.","authors":"Juyi Gao, Yanwen Li, Weidan Li, Shasha Li, Shaoyun Li","doi":"10.1080/03630269.2026.2639504","DOIUrl":"https://doi.org/10.1080/03630269.2026.2639504","url":null,"abstract":"To investigate the clinical value of miR-192-5p in β-thalassemia and its regulatory mechanism on BCL11A, a total of 109 patients with β-thal and 110 healthy controls were enrolled. miR-192-5p and BCL11A mRNA levels in peripheral blood were detected by RT-qPCR. Correlations between miR-192-5p and clinical indicators were analyzed via the Pearson coefficient. ROC curves evaluated their diagnostic value. Dual-luciferase reporter, RIP, and cell transfection assays verified the targeting relationship between miR-192-5p and BCL11A. miR-192-5p was upregulated in β-thal patients, with an AUC of 0.894 for distinguishing patients from controls. It was higher in the high HbF group than the low HbF group, and the AUC of 0.822 for subgroup distinction. miR-192-5p negatively correlated with MCV, MCH, HbA, and positively with HbF. BCL11A was downregulated in patients and negatively correlated with miR-192-5p. miR-192-5p targeted BCL11A 3'UTR to inhibit its expression. miR-192-5p is a potential diagnostic biomarker for β-thal and its targeted regulation of BCL11A provides new insights for therapy.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

HBA2 Gene Conversion Disrupts Reverse Dot-Blot Hybridization Genotyping: A Prenatal Case of Non-Deletional α-Thalassemia Misdiagnosis. HBA2基因转换干扰反向点印迹杂交基因分型：1例非缺失性α-地中海贫血产前误诊

IF 1 4区医学

Hemoglobin Pub Date : 2026-04-15 DOI: 10.1080/03630269.2026.2653219

Meiyu Zhang, Xiaoli Liu, Lizhu Chen, Dejian Yuan, Jun Huang, Xiaobao Wei, Cheng Huang, Qingyan Zhong

{"title":"HBA2 Gene Conversion Disrupts Reverse Dot-Blot Hybridization Genotyping: A Prenatal Case of Non-Deletional α-Thalassemia Misdiagnosis.","authors":"Meiyu Zhang, Xiaoli Liu, Lizhu Chen, Dejian Yuan, Jun Huang, Xiaobao Wei, Cheng Huang, Qingyan Zhong","doi":"10.1080/03630269.2026.2653219","DOIUrl":"https://doi.org/10.1080/03630269.2026.2653219","url":null,"abstract":"This study reports a misdiagnosed case of non-deletional α-thalassemia caused by HBA2 gene conversion, whose inheritance pattern does not conform to the classical Mendelian inheritance model. Gap-polymerase chain reaction (Gap-PCR) combined with PCR-reverse dot-blot (PCR-RDB) revealed that the fetus was homozygous for HbQS, while the father was heterozygous for HbQS, and the mother was homozygous for HbCS and concurrently heterozygous for the β-globin CD41-42 mutation. Sanger sequencing confirmed that the fetus was heterozygous for the HbQS, while the mother was heterozygous for the HbCS. In addition, we identified two variants of the HBA2 gene in both the mother and fetus: IVS II-55 T > G and IVS II-119 (-G) (+CTCGGCCC). These variants suggest a gene conversion event between HBA2 and HBA1, which likely contributed to the misdiagnosis of RDB as homozygous. The multiplex ligation-dependent probe amplification (MLPA) results further substantiated the occurrence of gene conversion. Ultimately, we confirmed that the corrected α-thalassemia genotypes for the fetus and the mother are αQSα/α[IVS II-55 T>G, IVS II-119 (-G) (+CTCGGCCC)]α and αCSα/α[IVS II-55 T>G, IVS II-119 (-G) (+CTCGGCCC)]α, respectively. This study elucidated a molecular mechanism of gene conversion that complicates the diagnosis of α-globin gene clusters, providing critical evidence for clinical genetic counseling and prenatal diagnosis.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-7"},"PeriodicalIF":1.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Inflammatory Biomarkers in Sickle Cell Disease: Understanding Their Role in Predicting the Disease-Related Complications. 镰状细胞病中的炎症生物标志物：了解它们在预测疾病相关并发症中的作用

IF 1 4区医学

Hemoglobin Pub Date : 2026-04-14 DOI: 10.1080/03630269.2026.2655317

Faida Ouali, Ahlem Sahli, Amri Yessine, Rym Dabboubi, Sondess Hadj Fredj, Mariem Othmani, Siwar Chelbi, Leila Ben Salem, Ezzeddine Ghazouani, Taieb Messaoud

{"title":"Inflammatory Biomarkers in Sickle Cell Disease: Understanding Their Role in Predicting the Disease-Related Complications.","authors":"Faida Ouali, Ahlem Sahli, Amri Yessine, Rym Dabboubi, Sondess Hadj Fredj, Mariem Othmani, Siwar Chelbi, Leila Ben Salem, Ezzeddine Ghazouani, Taieb Messaoud","doi":"10.1080/03630269.2026.2655317","DOIUrl":"https://doi.org/10.1080/03630269.2026.2655317","url":null,"abstract":"Sickle cell disease (SCD) is characterized by a chronic inflammatory state that leads to various complications. In this investigation, we quantified circulating levels of select inflammatory biomarkers including white blood cell count (WBC), C-reactive protein (CRP), and pro-inflammatory cytokines (Interleukin-1 (IL-1), Interleukin-6 (IL-6), Interleukin-8 (IL-8), and Tumor Necrosis Factor-α (TNF-α)) in a cohort of 66 patients with SCD during the steady-state. These were compared to levels in a control group, and we analyzed the association between changes in these biomarkers and the risk of SCD-related complications using odds ratios. Thus we found elevated levels of those inflammatory biomarkers when compared to controls. High WBC count was significantly more common in SCD patients with a history of recurrent infections and with cholelithiasis, but significantly less common in patients who presented with repetitive vaso-occlusive crisis (VOC). The odds of high CRP were significantly higher in the patients who presented with acute splenic sequestration (ASS), but significantly less common in those with cholelithiasis, heart murmur, osteonecrosis of femoral heads and nephropathy. High levels of IL1 were less common in patients with repetitive VOC and acute chest syndrome. High levels of IL8 were significantly more common in patients with recurrent infections and with heart murmur, but significantly less commun in patients with ASS. High TNFα levels were significantly most common in patients who developed cholelithiasis. Consequently, the assessment of inflammatory biomarker profiles during the steady-state phenotype may serve as a prognostic indicator for the development of SCD-related complications.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-10"},"PeriodicalIF":1.0,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147672830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

"Assessing Long-Term Health-Related Quality of Life in Children with β-Thalassemia Major Following Hematopoietic Stem Cell Transplantation" - A Cross-Sectional Comparative Study. “评估造血干细胞移植后β-地中海贫血儿童的长期健康相关生活质量”——一项横断面比较研究。

IF 1 4区医学

Hemoglobin Pub Date : 2026-04-07 DOI: 10.1080/03630269.2026.2651547

Varsha Mishra, Reema Singh, Rohan Halder, Narendra Agarwal, Tribikram Panda, Dinesh Bhurani

{"title":"\"Assessing Long-Term Health-Related Quality of Life in Children with β-Thalassemia Major Following Hematopoietic Stem Cell Transplantation\" - A Cross-Sectional Comparative Study.","authors":"Varsha Mishra, Reema Singh, Rohan Halder, Narendra Agarwal, Tribikram Panda, Dinesh Bhurani","doi":"10.1080/03630269.2026.2651547","DOIUrl":"https://doi.org/10.1080/03630269.2026.2651547","url":null,"abstract":"This study aimed to compare the health-related quality of life (HRQoL) of children under 18 years with β-thalassemia major (β-TM) who are at least 2 years post-hematopoietic stem cell transplantation (HSCT) with that of children receiving conventional therapy. It was a cross-sectional comparative study involving 41 patients in the transplant (Tx) group and 59 patients in the non-transplant (NTx) group, both matched by age and sex. HRQoL was assessed using the PedsQL 4.0 Generic Core Scales. The median age at HRQoL assessment was 13 years for the Tx group and 10 years for the NTx group. In the Tx group, the median time from transplant to HRQoL assessment was 25.1 months, with a median follow-up of 38.2 months post-transplant (range 24.5-96.2 months). The Tx group had significantly higher HRQoL scores across all domains-physical, emotional, social, school functioning, psychosocial health, and overall health-compared to the NTx group (p < 0.05). Additionally, patients in the Tx group with serum ferritin levels below 2000 mg/dl reported better scores (p < 0.05). However, the presence of graft-versus-host disease negatively impacted HRQoL, especially in the social domain (p = 0.04). HSCT significantly improves long-term HRQoL in children with β-TM.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2026-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147627499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparative Study of Ferritin Levels between Two Generic Formulations of Deferasirox in Sri Lankan Patients with Beta-Thalassemia Major. 斯里兰卡乙型地中海贫血患者两种非专利配方铁蛋白水平的比较研究。

IF 1 4区医学

Hemoglobin Pub Date : 2026-04-06 DOI: 10.1080/03630269.2026.2652080

Janidu Karaunarathne, Saumya Warnakulasuriya, Chamodhi Perera, Hashini Premathilaka, Mega Rajapaksha, Shiromi Perera, Dileepa Ediriweera, Anuja Premawardhena

{"title":"Comparative Study of Ferritin Levels between Two Generic Formulations of Deferasirox in Sri Lankan Patients with Beta-Thalassemia Major.","authors":"Janidu Karaunarathne, Saumya Warnakulasuriya, Chamodhi Perera, Hashini Premathilaka, Mega Rajapaksha, Shiromi Perera, Dileepa Ediriweera, Anuja Premawardhena","doi":"10.1080/03630269.2026.2652080","DOIUrl":"https://doi.org/10.1080/03630269.2026.2652080","url":null,"abstract":"Generic deferasirox (DFX) formulations are increasingly used in resource-limited settings, but evidence of therapeutic equivalence remains limited. A study was designed to compare ferritin trends before and after the introduction of a new generic dispersible deferasirox formulation (2019) that replaced the previous dispersible generic deferasirox preparation among Sri Lankan patients with β-thalassemia major, and to evaluate compliance and adverse effects. A retrospective cohort study was conducted at the North Colombo Teaching Hospital, Sri Lanka, using patients aged 2 years and above with ferritin data before and after 2019. Patients were categorized into monotherapy and combination with desferrioxamine therapy (DFO+DFX) groups. Compliance was assessed using validated criteria. Of 213 patients, 89 met the inclusion criteria (30 monotherapy; 59 combination therapy). No significant differences in ferritin trends were observed before and after the 2019 brand switch in the overall cohort or subgroups. Compliance was strongly associated with ferritin levels, with medium and poor compliance associated with significantly higher ferritin levels. The new generic deferasirox formulation appears therapeutically comparable to the prior generic product. Compliance remains the dominant determinant of ferritin control.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147627567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Difficult Cases in the Diagnosis of Thalassemia Syndromes. 地中海贫血综合征诊断中的疑难病例。

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-02-23 DOI: 10.1080/03630269.2026.2627028

Duran Canatan, Emel Altunsoy

{"title":"Difficult Cases in the Diagnosis of Thalassemia Syndromes.","authors":"Duran Canatan, Emel Altunsoy","doi":"10.1080/03630269.2026.2627028","DOIUrl":"10.1080/03630269.2026.2627028","url":null,"abstract":"Thalassemia syndromes result from a significant reduction in the synthesis of globin chains (α, β, γ, δ). An imbalance between α- and non-α-globin chains underlies β-thalassemia. α-Globin tetramers accumulate and precipitate in erythroid precursors (ineffective erythropoiesis). Hemolysis also plays an important role, shortening the erythrocyte lifespan. α-Thalassemia syndromes are caused by approximately 200 deletions and point mutations, as well as rare large deletions. More than 350 mutations have been identified in β-thalassemia syndromes, the majority of which are point mutations, with rare large gene deletions. Molecular genetic diagnostic methods include the amplification refractory mutation system (ARMS), reverse dot blot (RDB) for known mutations, Gap-PCR, multiplex ligation-dependent probe amplification (MLPA) for unknown deletion mutations, and Sanger sequencing for point mutations. In recent years, next-generation sequencing (NGS) methods such as targeted panel tests allow rapid, high-throughput detection of genetic variants; whole exome sequencing (WES) and whole genome sequencing (WGS) are also used. We use a diagnostic algorithm in our center as follows: β sequencing, α MLPA, α sequencing, β MLPA. If a diagnosis cannot be made with these tests, we use an anemia panel containing 214 genes, WES, or WGS. In this study, we present difficult cases encountered at our center and discuss methods used for cases with genetic diagnostic challenges reported in the literature.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"192-196"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147276252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Vitamin B12 Deficiency Does Not Induce Homocysteine Increase in Transfusion-Dependent β-Thalassemia Major Patients Receiving Folic Acid Supplementation. 维生素B12缺乏不会导致输血依赖性β-地中海贫血患者补充叶酸后同型半胱氨酸升高。

IF 1 4区医学

Hemoglobin Pub Date : 2026-03-01 Epub Date: 2026-02-23 DOI: 10.1080/03630269.2026.2631711

Arash Arya, Saeid Jokar

{"title":"Vitamin B12 Deficiency Does Not Induce Homocysteine Increase in Transfusion-Dependent β-Thalassemia Major Patients Receiving Folic Acid Supplementation.","authors":"Arash Arya, Saeid Jokar","doi":"10.1080/03630269.2026.2631711","DOIUrl":"10.1080/03630269.2026.2631711","url":null,"abstract":"Vitamin B12 deficiency is a frequent but underdiagnosed complication in patients with transfusion-dependent β-thalassemia. Folic acid supplementation, commonly prescribed in this population, may mask hematological signs and alter homocysteine metabolism, complicating diagnosis. We conducted a cross-sectional study of 80 patients with transfusion-dependent β-thalassemia receiving daily folic acid supplementation (1 mg). Fasting serum vitamin B12 and plasma homocysteine levels were measured, and the correlation between B12 status and homocysteine was analyzed. Nineteen patients (23.8%) had biochemical vitamin B12 deficiency (<200 pg/mL). However, the mean homocysteine concentration did not differ significantly between B12-deficient and non-deficient patients (7.5 ± 4.2 vs. 6.39 ± 3.73 µmol/L; p = 0.420). No significant correlation was found between serum B12 and homocysteine levels (r = -0.128, p = 0.267). In patients with transfusion-dependent β-thalassemia receiving folic acid supplementation, homocysteine may not reliably reflect vitamin B12 deficiency, and normal levels should not be used to exclude deficiency. Routine screening with more specific markers, such as methylmalonic acid, may be necessary to prevent undetected B12 deficiency and its neurological complications.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"203-206"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147276254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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