Hemoglobin最新文献

{"title":"Evaluating Health-Related Quality of Life in Thalassemia: Low-Dose Thalidomide vs. Standard Care-Insights from a Comparative Study.","authors":"Varsha Mishra, Pratibha Singh Yadav, Reema Singh, Sujay Rainchwar, Roy J Palatty, Tribikram Panda, Karuna Jha, Rohan Halder, Narendra Agrawal, Dinesh Bhurani","doi":"10.1080/03630269.2025.2473526","DOIUrl":"https://doi.org/10.1080/03630269.2025.2473526","url":null,"abstract":"<p><p>Thalassemia is a hemoglobinopathy that affects many people worldwide. Although treatments such as iron chelation and safe transfusions have improved life expectancy, patients still experience complications. Thalidomide, with its immunomodulatory and anti-angiogenic properties, has been found to increase the expression of the γ-globin gene and promote erythroid cell proliferation. Our study compared thalidomide-treated and standard therapy groups, assessing health-related quality of life in thalassemia patients using the SF-36 questionnaire tailored for the Indian population. A total of 84 patients (Thalidomide: 50, Standard: 34) were enrolled. Sixty-four percent of patients on thalidomide became transfusion-free within 4-6 months. The mean duration of transfusion requirement in the thalidomide group increased from 20 to 35 days in 30% of patients. Patients aged ≤ 20 years, without splenectomy, and unemployed had significantly better physical health component (PHC) scores with thalidomide therapy compared to standard therapy (<i>P</i> = 0.027, <i>P</i> = 0.0007, and <i>P</i> = 0.045, respectively). On the other hand, patients aged >20 years and with intact spleen had significantly better mental health component (MHC) scores with thalidomide therapy compared to standard therapy (<i>P</i> = 0.006 and <i>P</i> < 0.00001, respectively). Thalidomide therapy showed significantly better MHC scores than standard therapy on all four scales. Thalidomide therapy shows significant promise in improving the HRQoL for thalassemia patients, particularly in those with early initiation, as indicated by enhanced physical and mental health component scores and improved vitality, emotional well-being, role-emotional, and social functioning compared to standard care.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-7"},"PeriodicalIF":1.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556599","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 Effect of Single Nucleotide Polymorphisms on Clinical Phenotypes of Sabahan Transfusion-Dependent β-Thalassemia Patients with Homozygous Filipino β⁰-Deletion.","authors":"Latifah Suali, Falah Abass Mohammad Salih, Mohammad Yusof Ibrahim, Mohammad Saffree Bin Jeffree, Emma Suali, Fong Siew Moy, Yap Shook Fe, Caroline Sunggip","doi":"10.1080/03630269.2024.2448175","DOIUrl":"10.1080/03630269.2024.2448175","url":null,"abstract":"<p><p>Sabah has the highest prevalence of β-thalassemia in Malaysia, with the Filipino β⁰-deletion as the predominant mutation. Patients with the homozygous Filipino β⁰-deletion exhibit phenotypic heterogeneity due to various genetic modifiers, yet the effects of these modifiers on the clinical phenotype remain poorly understood. This study investigated the effects of the coinheritance of α-thalassemia, <i>Xmn</i>I-^Gγ rs7482144, <i>BCL11A</i> rs766432, and 5'HS4 rs16912979 polymorphisms on the clinical phenotype of homozygous Filipino β⁰-deletion patients in Sabah. Molecular analyses were performed on 124 homozygous Filipino β⁰-deletion patients using gap-PCR, PCR-RFLP, multiplex PCR, ARMS-PCR, gel electrophoresis, and DNA sequencing. Data showed that the coinheritance of the -α^3.7 deletion significantly affected the clinical phenotypes of homozygous Filipino β⁰-deletion patients (<i>p</i> < 0.05). Patients with the -α^3.7/-α^3.7 genotype (5.6%) had a less severe clinical phenotype compared to those with the αα/αα (71.8%) and -α^3.7/αα (22.6%) genotypes. Our data further revealed that the MAFs of the X<i>mn</i>I-^Gγ rs7482144 and <i>BCL11A</i> rs766432 polymorphisms in these patients were 0.032 and 0.194, respectively. Interestingly, none of these single nucleotide polymorphisms significantly influenced the clinical phenotype of the patients. The effect of the 5'HS4 rs16912979 polymorphism on the clinical phenotype could not be assessed due to its rarity (1.6%). However, a novel 5'HS4 c.733+G mutation was identified, warranting further investigation of its potential impact on β-thalassemia pathogenesis. Our findings indicate that the clinical phenotype of patients with the homozygous Filipino β⁰-deletion is strongly influenced by the coinheritance of the -α^3.7 deletion, but not by the <i>Xmn</i>I-^Gγ rs7482144 and <i>BCL11A</i> rs766432 polymorphisms.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"10-19"},"PeriodicalIF":1.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978321","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":"Hypersplenism Affects Growth and Haematology in HbSS: Observations from the Jamaican Birth Cohort.","authors":"Ian Hambleton, Karlene Mason, Beryl Serjeant, Graham Serjeant","doi":"10.1080/03630269.2025.2461075","DOIUrl":"10.1080/03630269.2025.2461075","url":null,"abstract":"<p><p>In 296 patients with homozygous sickle cell disease (HbSS) detected during the screening of 100,000 deliveries between 1973-1981, chronic hypersplenism defined as a spleen measuring ≥4 cm below the costal margin with evidence of prolonged red cell sequestration occurred in 30 (10.1%) subjects, 23 resolved by splenectomy and 7 resolved spontaneously. Median age at splenectomy was 4.8 years and following splenectomy, median values for hemoglobin increased by 2.3 g/dL, reticulocytes fell by 8.3%, total nucleated cells fell by 2.2%, and platelets increased by 29,813 × 10⁹/dL. Mean splenic weight at splenectomy was 340 g representing 0.5%-4.9% of post-splenectomy body weight. Following splenectomy, height increased at a greater rate than in a matching period for controls (95% CI 0.11-4.06. <i>p</i> = 0.04). Risk factors for hypersplenism, did not differ among commonly used determinants of sickling, fetal hemoglobin (HbF), α globin gene number, or β globin haplotype. A history of acute splenic sequestration preceded hypersplenism more commonly among splenectomized cases (20/23 compared with 0 of 7 resolving spontaneously (Fishers exact test <i>p</i> < 0.001). Factors causing hypersplenism remain largely unknown but splenectomy after a period of monitoring for spontaneous regression, improves hematology and growth.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"47-53"},"PeriodicalIF":1.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467858","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":"Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.","authors":"Meaad K Hassan, Raghad A Abbas, Riyad A Hassan, Israa M Taghlubee, Sara S Abd Al Majeed, Ghassan A Khaleel, Huda H Mohammed, Sundus J Hassoon, Hassan S Hatem, Hanan H Hasan, Ashwaq T Judi, Wisam J Mohammed, Dina Sami, Thamir A Hussein, Nawras A Al-Kareem, Nasir Al-Allawi","doi":"10.1080/03630269.2024.2446360","DOIUrl":"10.1080/03630269.2024.2446360","url":null,"abstract":"<p><p>The knowledge of the prevalence and molecular basis of β-hemoglobinopathies constitutes an important prerequisite for an effective prevention program. To address this issue in Iraq's capital, Baghdad, a total of 12526 individuals (6263 couples) attending three main Premarital Screening centers were enrolled. Individuals were labeled as β-hemoglobin disorders based on full blood counts and high-performance liquid chromatography. For those identified as β-thalassemia trait, molecular characterization was achieved by multiplex PCR and reverse hybridization, followed by next-generation sequencing where appropriate. The prevalence of β-thalassemia and δβ-thalassemia traits were 3.5% and 0.01% respectively. For structural variants: sickle cell, hemoglobin D, C, and E traits were documented in 0.37%, 0.07%, 0.05%, and 0.04% respectively. Twenty-two couples were identified as couples at risk of having affected babies with hemoglobinopathies (3.5/1000). A total of 23 different β-thalassemia mutations were identified in studied samples, the eight most frequent of which were IVS-II-I (G > A), IVS-I-110 (G > A), IVS-I-6 (T > C), Codon 44 (-C), IVS-I-5 (G > C), IVS-I-1 (G > A), IVS-I-130 (G > C), and IVS-II-745 (C > G), accounting for 74.7% of the total mutations. In conclusion, the study illustrates the heterogeneity of β-thalassemia mutations in Iraq's capital, and identified several service indicators for prevention. Accordingly, it constitutes an important step in the setup for an effective prevention program of hemoglobinopathies.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"31-37"},"PeriodicalIF":1.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142947965","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":"Alpha Thalassemia Major: From a Lethal to a Treatable Condition.","authors":"Cornelis Harteveld","doi":"10.1080/03630269.2025.2476243","DOIUrl":"https://doi.org/10.1080/03630269.2025.2476243","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"49 1","pages":"1-2"},"PeriodicalIF":1.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647912","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":"Coexisting β-Thalassemia Trait, Gilbert Syndrome and Alpha-Globin Gene Triplication in a Child with Non-Transfusion Dependent Thalassemia Phenotype.","authors":"Ajmeera A Azeez, Prashant Sharma, Jasbir Kaur Hira, Deepak Bansal","doi":"10.1080/03630269.2024.2449450","DOIUrl":"10.1080/03630269.2024.2449450","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"60-62"},"PeriodicalIF":1.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978320","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":"First Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation (<i>HBA2</i> c.244delT) in a Chinese Family.","authors":"Jian-Ying Zhou, Chen-Yu Wang, Jian Li, Gui-Lan Chen, Xue-Wei Tang, Fa-Tao Li, Fan Jiang","doi":"10.1080/03630269.2024.2444360","DOIUrl":"10.1080/03630269.2024.2444360","url":null,"abstract":"<p><p>Microcytosis of red cells and mild anemia are common in thalassemia carriers but those phenotypes are not specific. It is really a challenge for clinical interpretation of those variants. Co-segregation with disease in affected family members or specific phenotypes such as the abnormal Hb H are very helpful to assess the pathogenicity of rare variants. <i>HBA2</i> c.244delT was only reported in a 19-year-old woman with mild microcytosis and hypochromia. There was no other information about this variant reported before. We first described the case of this variant compounded with SEA deletion who presented with moderate anemia. Co-segregation analysis was confirmed by Sanger sequencing. Our study gave evidence for predicting the pathogenicity of this rare missense variant.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"69-71"},"PeriodicalIF":1.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921367","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":"Rapid Identification of β-Thalassemia, Hb E, and High Hb F Determinants Using a High-Resolution Melting Analysis: Application in Prenatal Diagnosis in Southern Thailand.","authors":"Wanicha Tepakhan, Natwadee Attakan, Sataron Kanjanaopas, Korntip Srewaradachpisal","doi":"10.1080/03630269.2025.2458822","DOIUrl":"10.1080/03630269.2025.2458822","url":null,"abstract":"<p><p>β-thalassemia (thal), hemoglobin (Hb) E, and high Hb F determinants, which are caused by mutations in the β-globin gene cluster, are common genetic disorders in Thailand and Southeast Asia. Prenatal diagnosis is essential for couples at risk to identify severe forms, including homozygous β-thal and Hb E/β-thal. Conventional methods, including reverse dot-blot hybridization and gap-polymerase chain reaction (PCR) for genotyping of point and large deletion mutations, require post-PCR steps, which are time-consuming and costly. This study aimed to develop a rapid and efficient method using monoplex high-resolution melting (HRM) analysis for genotyping of Hb E and 11 β-thal mutations; multiplex HRM analysis for identifying six deletional mutations, including two β⁰-thal mutations (3.5 and 45 kb deletion); and a novel method for detecting four high Hb F determinants, namely, δβ⁰-thal (12.5 kb deletion), HPFH6, Indian inv-del (^Aγδβ)⁰-thal, and Thai del-inv-ins (^Aγδβ)⁰-thal. The developed assays were validated using 182 blinded fetal DNA samples with 41 β-thal genotypes. Different HRM patterns were observed among wild-type, heterozygote, homozygote, and compound heterozygote genotypes. Six deletional mutations showed specific melt curves. This technique demonstrated 100% concordance with conventional methods. The assay showed 100% sensitivity, specificity, and positive and negative predictive values within the limit of detection at DNA concentrations of 8.0 ng/reaction. Finally, this developed assay was efficient in identifying both point mutations and large deletion, convenient, rapid, and cost-effective and did not require post-PCR steps. Thus, this technique has potential for application in prenatal diagnosis of thal and can inform prevention and control programs.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"38-46"},"PeriodicalIF":1.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122821","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":"Diagnosis and Treatment of Alpha Thalassemia Major.","authors":"Beth Apsel Winger, Ayotola Ajayi, Elliott Vichinsky","doi":"10.1080/03630269.2024.2432899","DOIUrl":"10.1080/03630269.2024.2432899","url":null,"abstract":"<p><p>Alpha thalassemia major (ATM) is the most severe form of α-thalassemia, with thousands of cases annually throughout the world. It was historically incompatible with life, with almost all affected individuals dying at or before birth. Recent advances utilizing early, serial intrauterine transfusions have resulted in improved outcomes, including improved neurocognitive functioning and less congenital anomalies. At-risk families should be identified pre-conceptually for counseling and options such as preimplantation genetic testing. ATM, when diagnosed prenatally, requires counseling about termination options and transfusion therapy. Postnatally, aggressive transfusion, in contrast to standard thalassemia transfusion protocols, suppresses ineffective erythropoiesis and hemoglobin Barts formation. These advances have changed the course of ATM <i>in utero</i> and postnatally. Preliminary results suggest iron chelation may be safely administered after one year of age with monitoring, including quantitative liver iron measurements. Patients with ATM can now survive on chronic transfusion therapy and potentially be cured by hematopoietic cell transplantation (HCT). New therapies continue to emerge, including <i>in-utero</i> stem cell transplantation using maternal stem cells and Phase 1 gene therapy trials evaluating reactivation of the embryonic α-globin (zeta) gene and encoding the α-globin gene. Globally, an international working group has been formed to address ATM, which should lead to advances worldwide.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"3-9"},"PeriodicalIF":1.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556598","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":"Long-Term Survival Rates of a Sickle Cell Disease Cohort in Saudi Arabia: A 2009-2023 Observational Study.","authors":"Tamader A Aloofy, Aamer Aleem, Farjah H Algahtani, Ali Al-Shehri, Abdulrahman Alsultan","doi":"10.1080/03630269.2025.2462174","DOIUrl":"10.1080/03630269.2025.2462174","url":null,"abstract":"<p><strong>Background: </strong>Sickle cell disease (SCD) is prevalent in Saudi Arabia. This study evaluates the long-term survival rates of a cohort of SCD patients.</p><p><strong>Methods: </strong>This observational cohort study was conducted at King Saud University Medical City from January 2009 to September 2023. We enrolled 223 SCD patients between 2009 and 2014, collecting comprehensive data at baseline and during follow-up. The primary endpoint was overall survival.</p><p><strong>Results: </strong>The cohort had a median follow-up of 11.5 years, totaling 2,118 patient-years. The recent median age was 28.9 years (12.2-63.8). The survival rates at ages 20, 30, 40, and 50 years were 100%, 98.4%, 95.1%, and 89.0%, respectively, with no mortality observed before the age of 20 years. The incidence of mortality was 0.28 deaths per 100 patient-years. Among the six deaths (2.7%), causes included non-Hodgkin lymphoma, acute chest syndrome, and a sepsis-like condition, with three unknown causes. The median age of death was 36.3 years. The increased use of hydroxyurea, from 47% to 80%, was associated with reduced pain crises and acute chest syndrome, and improved hemoglobin and HbF levels. Of the patients, 43 (19.2%) were lost to follow-up, 16 (7.2%) were referred for stem cell transplant, and 16 (7.2%) were followed at other institutions.</p><p><strong>Conclusions: </strong>This study highlights excellent survival rates for SCD patients in our cohort. Nonetheless, the considerable loss to follow-up highlights the need for strategies to address this issue and larger multicenter studies to confirm our results.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"54-59"},"PeriodicalIF":1.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363946","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}