Hemoglobin最新文献

{"title":"Hyperbaric Oxygen Therapy in Sickle Cell Disease: A Narrative Review of Mechanisms, Clinical Applications, and Future Directions.","authors":"Awni Alshurafa, Mohammed Abdulgayoom, Jamil R Wafi, Tarek Abouzeid, Jaffer Altooq, Mohamed A Yassin","doi":"10.1080/03630269.2026.2658568","DOIUrl":"10.1080/03630269.2026.2658568","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is characterized by recurrent vaso-occlusion, hemolysis, and chronic inflammation, leading to acute painful crises and progressive organ damage. Despite standard supportive and disease-modifying therapies, many complications remain difficult to manage. Hyperbaric oxygen therapy (HBOT) increases dissolved oxygen delivery to hypoxic tissues and may reduce sickling and ischemia-reperfusion injury. This narrative review summarizes the mechanistic rationale and available clinical evidence for HBOT in SCD-related complications, including bone disease, chronic leg ulcers, ophthalmic ischemia, and priapism. Current evidence is limited to case reports, small series, and early-phase studies with heterogeneous protocols. Reported benefits include improved pain control and tissue healing in selected patients. HBOT appears generally well tolerated, but its role remains undefined. Prospective, controlled trials are needed to establish efficacy and optimal use.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"256-263"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769870","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":"Hb Baise (<i>HBA2</i>: C.153_154insGACCTG): An Unexpectedly Discovered Novel Variant in Glycated Hemoglobin Testing.","authors":"Li Liang, Leping Ning, Lihong Zheng, Bin Li, Liang Liang, Youqiong Li","doi":"10.1080/03630269.2026.2669121","DOIUrl":"10.1080/03630269.2026.2669121","url":null,"abstract":"<p><p>We report a novel α-globin chain variant identified in a Chinese female. This variant was incidentally detected during routine Hb A_1c measurement. Analysis using the high-performance liquid chromatography (HPLC) D100 system yielded an Hb A_1c value of 4.2% and revealed an unidentified peak constituting 25.41% of the chromatogram. In contrast, analysis with the H50 system reported an Hb A_1c of 4.3% with no abnormal peaks detected. Subsequent hemoglobin fraction analysis by HPLC showed an abnormally elevated P3 peak (30.6%), while capillary electrophoresis (CE) resolved a distinct abnormal peak migrating to zone 12, accounting for 27.3% of the total hemoglobin. Sanger sequencing confirmed a heterozygous six-nucleotide insertion (+GACCTG) between codons 50 and 51 of the <i>HBA2</i> gene. This specific mutation has not been previously documented. In accordance with conventional nomenclature, the variant is designated as Hb Baise (<i>HBA2</i>: c.153_154insGACCTG) based on the proband's geographic origin. The carrier of Hb Baise presented with normal hematological parameters. Furthermore, the variant did not exhibit significant interference with Hb A_1c quantification in this case, as evidenced by the concordance between the measured Hb A_1c level and the patient's fasting blood glucose (4.51 mmol/L).</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"293-297"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147928910","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":"<i>HBA2</i> 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":"10.1080/03630269.2026.2653219","url":null,"abstract":"<p><p>This study reports a misdiagnosed case of non-deletional α-thalassemia caused by <i>HBA2</i> 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 <i>HBA2</i> 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 <i>HBA2</i> and <i>HBA1</i>, 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 α^QSα/α^{[IVS II-55 T>G, IVS II-119 (-G) (+CTCGGCCC)]}α and α^CSα/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.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"271-277"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","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}

{"title":"Prenatal Counseling Conundrum: Unexpectedly Mild Phenotype in a Pregnant Woman with Homozygous CD41/42(-TTCT) β-Thalassemia.","authors":"Jing Guo, Teng Li, Liang Liang, Jialiang Huang, Youqiong Li","doi":"10.1080/03630269.2026.2664191","DOIUrl":"10.1080/03630269.2026.2664191","url":null,"abstract":"<p><p>We describe a pregnant woman with a genotype consistent with β-thalassemia major but a phenotype suggestive of the β-thalassemia trait. Routine genetic testing revealed a homozygous CD41/42(-TTCT) (<i>HBB</i>:c.126_129delCTTT) mutation in the β-globin gene. Hemoglobin electrophoresis showed an Hb F level of 98.9% and an Hb A₂ level of 1.1%, while the complete blood count indicated an Hb concentration of 98 g/L. Pedigree analysis confirmed that both parents were heterozygous CD41/42(-TTCT) carriers, consistent with their mild clinical presentations. Further investigations using multiplex ligation-dependent probe amplification excluded copy number variations in the α- and β-globin gene clusters, and third-generation sequencing ruled out potential cis-acting mutations. Sanger sequencing confirmed that the proband harbored two mutations in the γ-globin chain (^Gγ-158 C > T and ^Aγ + 25 G > A). Because her husband was also a heterozygous carrier of the same mutation, prenatal diagnosis was performed and indicated a homozygous CD41/42(-TTCT) genotype in the fetus. This marked genotype-phenotype discordance in the pregnant woman posed a significant challenge for prenatal genetic counseling. Ultimately, given the current limitations in understanding such phenotypic variations, the couple decided to terminate the pregnancy.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"282-287"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147928913","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":"Beyond Hypersplenism: Splenic Marginal Zone Lymphoma in an Older Adult with Hemoglobin E/Beta-Thalassemia.","authors":"Aaron N Cheng, Jennifer Cohen, Rachel K Lundberg, Farzana A Sayani, Elise A Chong, Scott A Peslak","doi":"10.1080/03630269.2026.2669119","DOIUrl":"10.1080/03630269.2026.2669119","url":null,"abstract":"<p><p>With improvements in blood safety and availability, along with broad access to safe and effective iron chelation, outcomes for patients with thalassemia have greatly improved over recent decades. Previously a predominantly pediatric condition, thalassemia is now increasingly encountered in an aging population. We describe an adult man with HbE/β-thalassemia whose course was complicated by progressive splenomegaly and cytopenias, initially attributed to his underlying thalassemia. Further evaluation, however, revealed splenic marginal zone lymphoma. After the initiation of anti-B-cell therapy, he experienced rapid clinical improvement and was able to avoid surgical splenectomy. This case highlights how complications ascribed to thalassemia can overlap with other diagnoses that may become more prevalent with age, and demonstrates the importance of maintaining a broad differential when symptoms progress despite appropriate thalassemia-directed management.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"288-292"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13297366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147928886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"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":"10.1080/03630269.2026.2652080","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"229-236"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","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}

{"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":"<p><p>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; <i>p</i> = 0.420). No significant correlation was found between serum B₁₂ and homocysteine levels (r = -0.128, <i>p</i> = 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.</p>","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}

{"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":"<p><p>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.</p>","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}

{"title":"SickleInAfrica Consortium: A Seven-Country Study Evaluating the Performance of Dried Blood Spot Point-of-Care Testing in Newborn Screening for Sickle Cell Disease.","authors":"Obiageli Eunice Nnodu, Wilson Mupfururirwa, Sarah Kiguli, Lulu Chirande, Boubacar Ali Toure, Fred Stephen Sarfo, Patience Kuona, Aldiouma Guindo, Andrew Louden, Arthemon Nguweneza, Emmanuel Balandya, Catherine Chunda-Liyoka, Victoria Nembaware, Chandré Oosterwyk, Mario Jonas, Jack Morrice, Andre Pascal Kengne, Siana Nkya, Upendo Masamu, Julie Makani, Patrick Ohiani Moru, Abdulmalik Koya, Heriud Martin, Lawson Chikara, Evans Xorse Amuzu, Natasha Mupeta Kaweme, Mary Nakibirango, Chinwe Okeke, Maxwell Nwegbu, Yaa Oppong-Mensah, Deogratias Munube, Reuben Ikechukwu Chianumba, Anazoeze Madu, Ruth Namazzi, Gwendoline Kandawasvika, Nesla Mahenge, Bruno Mmbando, Agnes Jonathan, Josephine Mgaya, Janeth Manongi, Irene Minja, Emmanuel Peprah, Ambroise Wonkam","doi":"10.1080/03630269.2026.2630709","DOIUrl":"10.1080/03630269.2026.2630709","url":null,"abstract":"<p><p>Sickle cell disease (SCD) remains a major public health concern in sub-Saharan Africa (SSA), where approximately 200,000 newborns are affected annually. Without early diagnosis and access to care, up to 50% of these children may die before the age of five. Although newborn screening (NBS) programs have proven effective in improving survival, their implementation across Africa is constrained by logistical barriers associated with standard diagnostic methods such as isoelectric focusing (IEF), high-performance liquid chromatography (HPLC), and cellulose acetate electrophoresis. Dried blood spot point-of-care testing (DBS-POCT) offers a potentially scalable alternative due to its stability, simplicity, and suitability for centralized analysis. We evaluated the diagnostic accuracy of DBS-POCT using the HemoTypeSC test compared to both standard POCT and reference laboratory testing across 705 newborns (0-3 months old) in seven countries within the SickleInAfrica Consortium. DBS-POCT demonstrated high sensitivity and specificity for detecting HbAA and HbAS, moderate sensitivity for HbSS, and lower sensitivity for HbAC, with some variability across countries. In several countries, DBS-POCT outperformed standard POCT, particularly in detecting SCD subtypes. Our findings support the utility of DBS-POCT for expanding newborn screening programs in resource-limited settings.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"50 2","pages":"111-120"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13101935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147645153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CRISPR in Thalassemia: Global Research Trend Analysis.","authors":"Muhammad Saboor, Maryam Jasem Alblooshi, Alreem Adel Alkaabi, Fatemeh Ramazan Soozaei, Moza Hamad Alketbi","doi":"10.1080/03630269.2026.2634815","DOIUrl":"10.1080/03630269.2026.2634815","url":null,"abstract":"<p><p>β-Thalassemia is a prevalent inherited disorder of β-globin chains. The clustered regularly interspaced short palindromic repeats (CRISPR) genome editing system has emerged as a potential curative strategy. We conducted a bibliometric analysis to map global research trends in CRISPR-based thalassemia research. Original and review research articles were retrieved from the Scopus database using the search terms [TITLE-ABS-KEY ('βeta thalassemia' OR 'β thalassemia' OR thalassemia*) AND TITLE-ABS-KEY ('gene edit*' OR crispr* OR 'clustered regularly interspaced short palindromic repeats')] AND [LIMIT-TO (DOCTYPE, 're') OR LIMIT-TO (DOCTYPE, 'ar')] for analysis. Bibliometric mapping and network visualization were performed using VOSviewer to analyze publication trends, authorship networks, international collaborations, keyword clusters, and citation metrics. Major CRISPR-based therapeutic strategies for thalassemia were reviewed to place experimental and clinical developments within a translational framework. The analysis demonstrates a clear transition from foundational genomic studies to translational applications, with leading contributions from the United States and China. Two dominant therapeutic strategies have emerged: direct correction of the <i>HBB</i> gene in hematopoietic stem cells and fetal hemoglobin reactivation via <i>BCL11A</i> repression. The latter strategy culminated in regulatory approval of exagamglogene autotemcel (Casgevy). Advances in base editing, prime editing, and strategies to improve engraftment are expected to enhance the precision and long-term efficacy of next-generation approaches. Clustered regularly interspaced short palindromic repeats-based research on thalassemia continues to expand, supported by extensive international collaboration and growing clinical translation. Future large-scale implementation will require advances in bioprocess engineering, cost reduction for <i>ex vivo</i> manufacturing, and adaptable treatment models for diverse healthcare systems.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"141-155"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147365049","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}