A beta-talassemia (BT) major é uma forma grave de BT de início precoce, caracterizada por anemia grave que requer transfusões regulares de glóbulos vermelhos.
Introdução
O que você precisa saber de cara
A beta-talassemia (BT) major é uma forma grave de BT de início precoce, caracterizada por anemia grave que requer transfusões regulares de glóbulos vermelhos.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 50 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Involved in oxygen transport from the lung to the various peripheral tissues LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation
Heinz body anemias
Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
Medicamentos e terapias
Mecanismo: DNA (cytosine-5)-methyltransferase 3A inhibitor
Mecanismo: Voltage-gated L-type calcium channel blocker
Mecanismo: Tyrosine-protein kinase JAK1 inhibitor
Mecanismo: Inhibin beta A chain inhibitor
Mecanismo: Hemoglobin beta chain exogenous gene
Variantes genéticas (ClinVar)
615 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 7 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
10 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Talassemia beta major
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.204
Antioxidant Effects of CoQ10 in Transfusion-Dependent β-Thalassemia Major Patients: Implications for Ferroptosis-Related Pathways.
The role of oxidative stress and ferroptosis in the pathogenesis of thalassemia major have been established and have been shown to cause tissue damage and disease progression. The lipophilic antioxidant coenzyme Q10 (CoQ10) can protect against tissue damage by restoring antioxidant enzyme function and decreasing oxidative damage. This study evaluated the effect of CoQ10 supplementation on biomarkers of ferroptosis in patients with thalassemia major. In this single-arm pre-post study, patients with confirmed thalassemia major (48) received oral CoQ10 (100 mg/day) for 8 weeks. Peripheral blood samples were collected before and after the study period for assays to measure antioxidant enzyme activity: superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPx). Statistical analyses were conducted using paired T-test and Wilcoxon. CoQ10 supplementation significantly increased SOD and GPx activity compared to baseline, (p < 0.05). No significant change was seen in CAT activity. No statistically significant differences were observed in hematological parameters and ferritin level after using CoQ10. CoQ10 supplementation appears to exert protective effects against ferroptosis in patients with thalassemia major, primarily by enhancing antioxidant defenses. Our study findings support the hypothesis that CoQ10 may represent a potential adjunctive therapy in mitigating oxidative stress and ferroptotic damage.
Clinical integration of red cell genotyping in children with β-thalassemia major: a prospective observational study.
Blood group serology frequently fails in chronically transfused patients. Discrepancies between phenotype and genotype were reported for 51% of patients with β-thalassemia in 2013; however, red cell genotyping has not become clinical routine in Turkey. We evaluated the current situation by reviewing all patients with β-thalassemia major at the main pediatric hematology outpatient clinic in Ankara for 9 months. A commercial kit was used for red cell genotyping, along with nucleotide sequencing in 51 patients. A total of 1734 antigens were determined by genotyping and were compared with the phenotype on record for 306 antigens of the Rh and Kell systems. We found up to 3 discrepancies in reported phenotype vs the genotype in 25 patients (49%). Notably, the discrepancy rate has remained unchanged over the past 10 years. The 3 patients with alloantibodies received significantly more transfusions than those without (90 ± 9 vs 73 ± 19; P = .015). Patients with discrepancies trended toward hepatic iron overload (84% vs 58%; P = .071). Other clinical parameters, namely transfusion frequency, growth, ferritin levels, and liver and cardiac functions, were comparable between patients with and those without discrepancies. By assessing red cell genotyping for its possible clinical benefit, we immediately improved transfusion practice in half of the children with β-thalassemia major. The implementation of red cell genotyping, a high-throughput method with a rapid turnaround time, will enhance antigen matching. Our real-world data may serve as evidence in the decision processes for the implementation of genotyping in countries in which red cell genotyping is not yet common practice.
Altered cerebral morphometry and individual-based morphological brain network in children with beta-thalassaemia major.
Beta-thalassemia major (TM) is a severe genetic blood disorder that frequently leads to cognitive impairments in pediatric patients, yet its neurological impact remains insufficiently explored. This study investigates alterations in cerebral gray matter morphology and brain network topology in children with TM and their associations with cognitive performance. High-resolution brain MRI data were processed using FreeSurfer to extract cortical morphological features, from which individual-based Morphological Brain Networks (MBNs) were constructed based on vertex-wise similarity across gray matter regions. A cohort of 27 children with TM and 40 age-matched healthy controls underwent structural network analysis, standardized cognitive assessments, and comprehensive blood testing, including evaluations of hemoglobin and iron concentrations. Results revealed marked structural disruptions in the motor and temporal cortices of TM patients. Network-level analysis further identified topological abnormalities within fronto-parietal regions, suggesting altered structural connectivity patterns that may underlie observed cognitive deficits. Notably, iron overload was significantly correlated with both regional brain changes and impaired network organization, indicating a plausible mechanistic link between systemic iron dysregulation and neural dysfunction. These findings underscore the neurological vulnerability of children with TM and illuminate the structural basis of their cognitive challenges. The study highlights the need to integrate neuroimaging biomarkers with clinical hematological profiles to better understand TM's effects on brain development. Future work should aim to expand these findings through longitudinal designs and larger samples to inform early neurocognitive interventions and optimize treatment strategies for this vulnerable population.
Effect of Closed Kinetic Chain Exercise Via Telerehabilitation on Muscle Strength, Balance, Fatigue and Hemoglobin Levels in Beta Thalassemia Major Children: A Randomized Controlled Trial.
Children with thalassemia often suffer from complications such as muscle weakness, bone fragility, fatigue and reduced physical endurance. As strengthening exercises have the potential to enhance physical function, increase independence, and improve overall quality of life for thalassemic child and Closed Kinetic Chain (CKC) exercises are proven to be beneficial due to their ability to engage multiple muscle groups simultaneously, leading to improved muscle strength and balance. Therefore the aim of the study was to determine the effect of closed kinetic chain exercises via telerehabilitation on muscle strength, balance, fatigue, and haemoglobin levels in Beta Thalassemia Major children This study involved 32 children aged 8-15 years with Beta thalassemia major, divided into experimental group (n = 16) receiving CKC exercises via telerehabilitation for 30-40-minutes, twice a week for 8 weeks, the control group (n = 16) receiving education on importance of being physically activity. Outcome measures were assessed at baseline, 4th week and 8th week which included balance using Bruininks-Oseretsky Test of Motor Proficiency (BOT-2); muscle strength, measured via hand-held dynamometer; fatigue levels by (PQL-MFS); and haemoglobin levels via the spectrophotometric method The experimental group showed significant improvements in balance (p < 0.001), muscle strength (p < 0.001), and fatigue reduction (p < 0.005), but no significant changes were observed on haemoglobin levels. An 8-week CKC exercise program delivered via telerehabilitation significantly enhanced balance, muscle strength, and reduced fatigue in children with Beta Thalassemia Major, though it did not affect haemoglobin levels.
Role of Serum Apelin and Carotid Artery Intima Thickness in Predicting Early Atherosclerotic Changes in Children With Beta-Thalassemia Major.
This case-control study, which was performed at a tertiary care center in India, involved sixty children between the ages of 5 and 18 who were already being treated as case of beta thalassemia major. All participants underwent routine biochemical investigations encompassing complete hemogram, viral markers, LFT, KFT, serum ferritin as per treating unit protocol, and specific tests including a 12-hour fasting lipid profile, carotid artery intima thickness (CIMT), and serum apelin levels. Appropriate Statistical Analysis were performed and p value was calculated and set at < 0.05 for it to be statistically significant. The index study showed that children with beta thalassemia had significantly lower serum cholesterol, LDL and HDL levels when contrasted with age matched controls and were also found to have mean CIMT and serum apelin levels significantly higher with p value < 0.001. Children living with beta thalassemia major are more likely to develop early sub-clinical atherosclerosis, and measures of serum apelin level and carotid artery intima thickness can be used in addition to routine lab parameters to determine the early stages of atherosclerosis in these patients.
Publicações recentes
Non-invasive prenatal diagnosis of beta-thalassemia disease using digital PCR.
Reduced number of endothelial progenitor cells in adult patients with beta thalassemia major.
"Assessing Long-Term Health-Related Quality of Life in Children with β-Thalassemia Major Following Hematopoietic Stem Cell Transplantation" - A Cross-Sectional Comparative Study.
Comparative Study of Ferritin Levels between Two Generic Formulations of Deferasirox in Sri Lankan Patients with Beta-Thalassemia Major.
Assessment of Serum Ferritin, Thyroid Profile and Calcium Homeostasis in Beta-Thalassemia Major Patients.
📚 EuropePMC923 artigos no totalmostrando 199
Antioxidant Effects of CoQ10 in Transfusion-Dependent β-Thalassemia Major Patients: Implications for Ferroptosis-Related Pathways.
Journal of blood medicineCompound Heterozygous Hemoglobin E-Beta (HbE-β)-Thalassemia Presenting With Chipmunk or Rodent Facies, and a Severe Thalassemia Major Phenotype.
CureusClinical integration of red cell genotyping in children with β-thalassemia major: a prospective observational study.
Blood global hematologyAssociation Between Iron Overload and Glucose Metabolism in Children and Youth with Transfusion-Dependent Beta Thalassemia: The Role of Chelation Therapy.
Mediterranean journal of hematology and infectious diseasesComparative Analysis of Erythroferrone and Hepcidin as Emerging Biomarkers of Iron Homeostasis in Patients with β-Thalassemia Major: A Case-Control Study from Pakistan.
HemoglobinClinico-epidemiological Profile of Transfusion-dependent Thalassemia Patients in a Tertiary Care Children's Hospital in Nepal: An Observational Study.
JNMA; journal of the Nepal Medical AssociationManagement of CMV Pneumonia, DAH, and BOS Following HSCT in a Child with β-Thalassemia: A Case Report.
Journal of inflammation researchReproductive Endocrine Stability Despite Persistent Hypogonadism in Well-Chelated Adult Women with Transfusion-Dependent β-Thalassemia.
Journal of clinical medicineVitamin B12 Deficiency Does Not Induce Homocysteine Increase in Transfusion-Dependent β-Thalassemia Major Patients Receiving Folic Acid Supplementation.
HemoglobinWhen HbA1c looks "too high": two practical clarifications for endocrine screening in chelated β-thalassemia major.
Therapeutic advances in endocrinology and metabolismEndothelial dysfunction and cardiac damage indicators in patients with β-thalassemia major under iron-chelation therapy.
Therapeutic advances in hematologyBeta-Thalassemia Major Complicated by Streptococcal Toxic Shock Syndrome: A Rare Case of Survival and Successful Management.
Case reports in hematologyImpact of iron chelation therapy on thyroid function in beta-thalassemia major patients from Pakistan.
Scientific reportsRed blood cell alloimmunization in transfusion-dependent β-thalassemia major patients in Eastern Iran.
Annals of hematologyThe impact of the expression signatures of LncRNAs HBBP1 and XIST on the diagnostic significance of patients with β-Thalassemia.
Annals of hematologyA Case Report of HLA 5/10 Cord Blood Cell Engraftment in a Patient with Severe β Thalassemia after Haplo-Cord Stem Cell Transplantation.
Annals of clinical and laboratory scienceAlterations in Serum MAO Activity and Tau Levels in β-Thalassemia.
HemoglobinUGT1A6 variants and deferiprone-induced ADRs: a complication-specific analysis in Iranian thalassemia patients.
PharmacogenomicsAltered cerebral morphometry and individual-based morphological brain network in children with beta-thalassaemia major.
NeuroscienceFunctional Abnormalities of the Endocrine System in Beta-Thalassemia Major Patients: Insights From a Hospital-Based Observational Study.
CureusFirst Report of Hb Oslo [HBB:c.127T>A; β42(CD1)Phe→Ile] from India and its Novel Compound Heterozygous Combination with IVS1-5 G>C [HBB:c.92+ 5G> C] Leading To β-Thalassemia Major.
Cell biochemistry and biophysicsAdult-Onset β-Thalassemia Major as Acquired Imprinting Disorder.
American journal of hematologyEffect of Closed Kinetic Chain Exercise Via Telerehabilitation on Muscle Strength, Balance, Fatigue and Hemoglobin Levels in Beta Thalassemia Major Children: A Randomized Controlled Trial.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionRole of Serum Apelin and Carotid Artery Intima Thickness in Predicting Early Atherosclerotic Changes in Children With Beta-Thalassemia Major.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionThe second reported case of a hemolytic transfusion reaction caused by anti-Sc2: a clinical diagnosis.
ImmunohematologyOvarian function compromise in pediatric beta-thalassemia major: a consequence of iron overload-induced mitochondrial and fibrotic damage.
Human reproduction (Oxford, England)Nutritional deficiencies among adults with beta thalassemia major in Vietnam.
Public health nutritionEndocrine complications in patients with β-thalassemia major receiving iron-chelation therapy.
Therapeutic advances in endocrinology and metabolismFragmented QRS duration as a marker of cardiac and hepatic iron overload: across-sectional study.
Scientific reportsAlterations in iron status predict cardiac response to blood transfusion in β-thalassemia major.
Scientific reportsEffects of fluconazole and voriconazole on cyclosporine levels and toxicity in allogenic hematopoietic stem cell transplant recipients: A comprehensive analysis.
Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy PractitionersFrequency of Zinc Deficiency Among Thalassemia Major Patients: A Comparative Cross-Sectional Study.
CureusA pilot study on the prevalence and patterns of haemoglobinopathies in Datia District, Madhya Pradesh, India.
Scientific reportsAssessment of Adherence to Iron Chelation Therapy Among Thalassemia Patients in Palestine.
AnemiaCardiovascular magnetic resonance derived pulmonary capillary wedge pressure in beta-thalassemia major: Clinical correlates and association with cardiac complications.
International journal of cardiologyPlacenta Percreta in the Absence of a Previous Uterine Scar.
CureusAssessment of β-Thalassemia Trait Occurrence in an Outpatient Sample from Southern Chile: A Retrospective Study.
Diagnostics (Basel, Switzerland)Genetic Analysis of a Patient with β-Thalassemia Major and Homozygous Hb Constant Spring in a Chinese Family.
Clinical laboratoryB-Type Natriuretic Peptides Levels in Patients With Beta-Thalassemia Major and Correlations With Biomarkers: A Systematic Review and Meta-Analysis.
Health science reportsImmune cell reconstitution after allogeneic hematopoietic stem cell transplantation in children with β-thalassemia major.
Translational pediatricsComplete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major.
PloS oneA Case Series on Beta Thalassemia Major With Secondary Diabetes Mellitus Due to Iron Overload and Other Complications.
CureusGenetically Confirmed Dual Hematologic Disorder: A Case of β-Thalassemia with Frameshift Mutation and Type 3 von Willebrand Disease in a Pediatric Patient.
HemoglobinExcellent Outcome of 1-Day Nonmyeloablative Salvage Regimen for Pediatric Patients with Graft Failure following Haploidentical Hematopoietic Stem Cell Transplantation.
Transplantation and cellular therapyLow rate of red cell alloimmunization among multiply transfused beta-thalassemia major patients in the Wasit province of Iraq.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisEvaluating Dried Blood Spot and Dried Blood Matrix as Alternatives to Venipuncture for Diagnosing Haemoglobinopathies in Adults: A Mass Spectrometric Approach.
Journal of mass spectrometry : JMSGlymphatic dysfunction as an imaging biomarker for cognitive impairment in patients with β-thalassemia major: A multimodal MRI study.
European journal of radiology openChelation: The Double-Edged Sword. A Case Report of Invasive, Disseminated Mucor Mycosis in a Beta Thalassemia Major During Transplant.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionEvaluation of osteoporosis in adult patients with beta-thalassemia major and its relation to serum sclerostin level.
Clinics and research in hepatology and gastroenterologyIron Overload and Its Impact on Liver Function and Lipid Profiles in Transfusion-Dependent β-Thalassemia Patients in Sana'a City.
Journal of blood medicineImpact of SNP Variants in PON-1 or UGT1A1 on Iron Chelation Therapy Outcomes and Zinc Status in Thalassemia Major Patients.
Biological trace element researchEffect of Therapy Reminder Application on Treatment Adherence in Adults with Beta-Thalassemia Major: A Randomized Clinical Trial.
Iranian journal of medical sciencesLate renal, liver, endocrine, and cardiac outcomes of bone marrow transplantation in Kurdish children with β-thalassemia major.
International journal of hematologyAssessment of natural killer cell subpopulations in pediatric patients with transfusion-dependent β-thalassemia major.
Clinical and experimental pediatricsMachine and deep learning for MRI-based quantification of liver iron overload: a systematic review and meta-analysis.
Radiologie (Heidelberg, Germany)Abatacept improves posttransplant survival and reduces endothelial injury syndromes in β-thalassemia major.
Blood advancesChallenges Associated with the Identification of Abnormal Hemoglobin Variants Utilizing the High-performance Liquid Chromatograph Technique: A Prospective Study in a Hospital Setting in Gujarat.
International journal of applied & basic medical researchBeta-Thalassemia Major With Iron Overload Cardiomyopathy and Refractory Cardiogenic Shock Requiring Mechanical Circulatory Support.
JACC. Case reportsEvaluation of hepatotoxicity due to conditioning regimens in beta thalassemia major and aplastic anemia patients undergoing bone marrow transplantation.
Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy PractitionersPopulation-adjusted cut-off: A new approach for enhancing the diagnostic efficacy of hematological discrimination formulae for screening β-Thalassemia trait.
Clinica chimica acta; international journal of clinical chemistryDietary Patterns Among Patients With Beta-Thalassemia Major in Vietnam.
Journal of human nutrition and dietetics : the official journal of the British Dietetic AssociationAssessment of health-related quality of life in transfusion dependent beta thalassemia.
Scientific reportsErythroid activity modulates iron regulation in pathological erythropoiesis: A cross-sectional case-control study.
The Indian journal of medical researchSalvage Structures, Known as Iron Chelating Agents, Acquired from the Nature and Matured in the Labs.
Current medicinal chemistryEfficacy of combination chelation with deferasirox and deferiprone in children with beta-thalassemia major: an audit from a unit in the developing world.
Clinical and experimental medicineMagnitude of Beta-Hemoglobinopathies through Biomarkers among the Selected Tribes of Dharmapuri, Tamil Nadu: A Community-Based Cross-Sectional Study.
International journal of hematology-oncology and stem cell researchUnveiling success: determinants of a successful haematopoietic stem cell transplant: a case report.
JPMA. The Journal of the Pakistan Medical AssociationEvaluation of Immune Functions in Transfusion-Dependent Thalassemia Patients with Alloimmunization.
Turkish journal of haematology : official journal of Turkish Society of HaematologyPrevalence of Candida albicans in the oral cavity of Beta Thalassemia Major and Thalassemia Minor Patients.
F1000ResearchLeptin and thyroid hormones in beta-thalassemia major: A cross-sectional study.
Caspian journal of internal medicineThe Association between β-Thalassemia Major (β-TM) and Cardiac Complications: Recent Insights.
Current cardiology reviewsAssociation of healthy eating behaviours and comorbidity on quality of life among adults with beta-thalassemia major: a moderation analysis.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationHyperhomocysteinemia in pediatric β-thalassemia: links to vitamin cofactor deficiencies and oxidative stress.
Clinical and experimental pediatricsPrediction model for cytomegalovirus infection following hematopoietic stem cell transplantation in patients with β-thalassemia major.
SAGE open medicineRisk-Stratified Pretransplant Immunosuppressive Strategy Improves Outcomes of Unrelated Cord Blood Transplantation in Pediatric β-Thalassemia Major.
Transplantation and cellular therapyStudy of Thyroid Function in Children With Beta-Thalassemia Major.
CureusRetinal Complications in a Patient With Pediatric Thalassemia: A Case Report.
CureusSurvey of Red Cell Transfusion Therapy and Immunohematology Services for Patients with Hemoglobinopathies in Türkiye.
Turkish journal of haematology : official journal of Turkish Society of HaematologyCoagulation and Fibrinolysis Dysregulation in β-Thalassemia Major: Potential Impact of Splenectomy and Medications on Thrombotic Risk.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisVitamin D Deficiency among Blood Transfusion Dependent Beta Thalassemia Children Admitted to Tertiary Level Pediatric Hospital in Nepal: A Descriptive Cross-sectional Study.
JNMA; journal of the Nepal Medical AssociationChronic myeloid leukemia in a patient with beta thalassemia major: a rare presentation.
Therapeutic advances in hematologyThe direct costs of transfusion-dependent beta-thalassemia in Saudi Arabia: A cost of illness analysis study.
MedicineKLF1 Knockdown Differentially Regulates γ-Globin Expression: Inhibition in K562 Cells but Reactivation in β-Thalassemia Major Erythrocytes with Erythropoiesis Disruption.
HemoglobinOutcomes of Unrelated Donor Stem Cell Transplantation with Partial T Cell Depletion for Pediatric Patients with Hemoglobinopathies.
Transplantation and cellular therapySeroepidemiology of Toxoplasma gondii infection among patients with beta-thalassemia major: a case-control study in Southeastern Iran.
BMC infectious diseasesImpacts of Hematopoietic Stem Cell Transplantation on Quality of Life and Behavioral Outcomes in Pediatric Patients with Leukemia and Thalassemia.
Current oncology (Toronto, Ont.)Optical coherence tomography findings in beta-thalassemia major: a systematic review and Meta-analysis.
International journal of ophthalmologyStudy on Large-Scale Brain Network Abnormalities in Patients With Beta-Thalassemia.
Brain and behaviorCorrelation between vitamin D level and left ventricular myocardial function demonstrated by speckle tracking echocardiography among β-thalassemia major children.
European journal of pediatricsMoyamoya syndrome in a 6-year-old β-thalassemia major patient: A case report.
Radiology case reportsClinical course and management of hypertriglyceridemia thalassemia syndrome: A case-based systematic review.
World journal of clinical pediatricsThe role of iron in normal and impaired testicular function.
AndrologyLiver Function Parameters and Validation of Health-Related Quality of Life Assessment of β-Thalassemia Cases at a Tertiary Care Hospital, Lumbini Province, Nepal.
Kathmandu University medical journal (KUMJ)Using Blood Group Genotyping to Predict Hemolysis in Patients With β-Thalassemia Major With Frequent Transfusions: Protocol for a Cross-Sectional Study.
JMIR research protocolsClinical Image-Vertebral artery beading in a child with Beta Thalassemia major.
Oxford medical case reportsThe diagnosis of GH deficiency in adult β-thalassemic patients: are two different stimulation tests necessary to improve specificity?
PituitarySpectrum of Ophthalmic Manifestations in Patients With Transfusion-Dependent Thalassemia.
CureusPrevalence and Significance of Pancreatic Iron in Transfusion-Dependent Sickle Cell Disease.
Pediatric blood & cancerNovel, potent, and orally bioavailable LSD1 inhibitors induce fetal hemoglobin synthesis in a sickle cell disease mouse model.
BloodClinical Profile and Vitamin D Status in Beta Thalassemia Major Children at a Tertiary Care Institute of Central India: A Cross-Sectional Study.
Nigerian journal of clinical practiceExperiences of Iranian Patients with Thalassemia Major Regarding Their Palliative and Supportive Care Needs: A Qualitative Content Analysis.
International journal of community based nursing and midwiferyFACTORS AFFECTING HEALTH RELATED QUALITY OF LIFE IN ADULT PATIENTS WITH BETA-THALASSEMIA MAJOR.
Georgian medical newsThe Possibilities and Importance of Assessing the Left Atrioventricular Coupling Index Using Various Diagnostic Imaging Methods in an Adult Population: A Comprehensive Review.
Journal of cardiovascular development and diseaseAwareness About Thalassemia Among the Parents of Thalassemic Children in Balochistan: A Cross-Sectional Study.
Health science reportsAssessment of ferritin and hepcidin levels in splenectomised and non-splenectomised β-thalassemia major patients and exploring a potential correlation with von Willebrand factor and ADAMTS-13.
Annals of hematologyInvestigation of alloimmunization in beta-thalassemia major patients: a cross-sectional study.
Annals of medicine and surgery (2012)The effect of aqueous extract of Iranian oak (Quercus brantii) on lipid profile and liver enzymes in beta-thalassemia patients: a randomized controlled trial, double-blind, placebo-controlled.
Frontiers in nutritionHow bad can vision get in beta-thalassemia? A case report and review of the literature.
BMC ophthalmologyControlled release of deferiprone using iron-responsive nanoparticles integrated with dissolving microneedle for novel alternative treatments of β-thalassemia major.
European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.VA challenging convergence of conditions in a patient with thalassemia major presenting with thymoma and lymphangioleiomyomatosis: a case report.
Journal of medical case reportsResearch on iron regulatory erythroid factors in children with β-thalassemia.
Journal of investigative medicine : the official publication of the American Federation for Clinical ResearchPancreatic Volume in Thalassemia: Determinants and Association with Alterations of Glucose Metabolism.
Diagnostics (Basel, Switzerland)Iron Overload-Related Oxidative Stress Leads to Hyperphosphorylation and Altered Anion Exchanger 1 (Band 3) Function in Erythrocytes from Subjects with β-Thalassemia Minor.
International journal of molecular sciencesCorrelation of Klotho Protein with Troponin-I as a Marker of Myocardial Damage in Iraqi Beta-Thalassemia Major Patients.
Reports of biochemistry & molecular biologyPelvic extramedullary hematopoiesis with life-threatening hemorrhage: a case report.
International journal of emergency medicineFactors associated with phosphate homeostasis in children with beta-thalassemia major: An analytical cross sectional study from Pakistan.
PloS onePrevalence of Alloimmunization Events in Thalassemia Patients With Repeated Transfusions in the Rhesus Blood Group System: A Systematic Review and Meta Analysis.
Journal of clinical medicine researchEffects of Thalidomide on Metabolism and Lifespan of Red Blood Cell in Patients With β-Thalassemia Major: A Post Hoc Analysis of a Randomized Controlled Trial.
Clinical therapeuticsLessons from Beta-Thalassemia for Improving Iron Overload Monitoring and Management in Kidney Failure.
CureusEvaluation and Effect of Transfusion on Respiratory Functions in Patients with β-Thalassemia Major.
Pediatric allergy, immunology, and pulmonologyCardiac injury caused by iron overload in thalassemia.
Frontiers in pediatricsSystematic identification and validation of ceRNA-driven regulatory mechanisms in pediatric β-Thalassemia major.
Annals of hematologyLeft ventricular diastolic and systolic functions by cardiac magnetic resonance in beta-thalassemia major: correlation with clinical findings and cardiac complications.
The international journal of cardiovascular imagingCorrelation study between magnetic resonance imaging-quantitated cardiac iron deposition and left ventricular function in patients with β-thalassemia major in China.
Science progressAssessment of cardiac iron deposition and genotypic classification in pediatric beta-thalassemia major: the role of cardiac MRI.
BMC medical imagingFamily Planning practices among the parents of beta thalassemia major patients in Makran division, Balochistan: A cross-sectional study.
Pakistan journal of medical sciencesComparison of Asymptomatic Brain Lesions Between Thalassemia Major and Sickle Cell Anemia Patients.
Medicina (Kaunas, Lithuania)Beta-thalassemia major presenting as rachitic rosary in young adult.
BMJ case reportsPregnancy, delivery, and neonatal outcomes among women with beta-thalassemia major: a population-based study of a large US database.
Archives of gynecology and obstetricsRed blood cell alloimmunization among transfusion-dependent thalassemia major patients in Northeastern Iran.
Asian journal of transfusion scienceA scoping review on the obstacles faced by beta thalassemia major patients in Pakistan- Matter of policy investment.
AIMS public healthReproductive Health in Women with Major β-Thalassemia: Evaluating Ovarian Reserve and Endocrine Complications.
MetabolitesCardiovascular Effects of Splenomegaly and Splenectomy in Beta-Thalassemia Major.
CureusAssessing the auditory effects of oral chelation therapy drug Deferasirox in individuals with β-thalassemia major.
World journal of otorhinolaryngology - head and neck surgeryThe role of miR-129-5p in regulating γ-globin expression and erythropoiesis in β-thalassemia.
Human molecular geneticsThe growth and development of children with β-thalassemia major one year after allogeneic hematopoietic stem cell transplantation.
Translational pediatricsIron-responsive nanoparticle-loaded bilayer dissolving microneedles for selective and controlled transdermal delivery of deferasirox in β-thalassemia major treatment.
Colloids and surfaces. B, BiointerfacesComparison of the effects of deferasirox film-coated tablets (Jadenu®) and deferasirox dispersible tablets (Exjade®) in patients with beta thalassemia major: a preliminary report of the effects on the satisfaction, convenience, cardiac/liver MRI T2*, serum ferritin level, and biochemical profiles.
Frontiers in pharmacologyShear Wave Elastography in the Assessment of Liver Iron Overload in Children With Beta Thalassemia Major.
Ultrasound quarterlySerum lipid profile abnormalities among beta-thalassemia patients: a systematic review and meta-analysis.
Lipids in health and diseaseCOMPARISON OF DIFFERENT TREATMENT MODALITIES OF CHELATION THERAPY IN BETA-THALASSEMIA MAJOR PATIENTS.
Journal of Ayub Medical College, Abbottabad : JAMCGut microbiota-derived TMAO and SIRT1/HMGB1 Axis: unveiling mechanisms of renal impairment in beta-thalassemia major.
Pediatric researchEffects of Thalidomide on Endothelial Activation and Stress Index in Children with β-Thalassemia Major.
Mediterranean journal of hematology and infectious diseasesAssessment of diagnostic accuracy of Gazelle: A point-of-care testing device for screening β-thalassemia trait.
The Indian journal of medical researchCardiovascular magnetic resonance in β-thalassemia major: beyond T2.
La Radiologia medicaCase report: Acute liver failure during deferasirox therapy and the potential role of pharmacogenetics.
Frontiers in pharmacologyExisting Tubular Injury in β-Thalassemia Major Patients Receiving Iron Chelating Agents with Normal Creatinine Level in East Java, Indonesia.
HemoglobinHealth-Related Quality of Life of Adolescents With Non-transfusion-Dependent Thalassemia in Basrah, Iraq.
CureusGenetic Study for Identifying Beta Thalassemia Trait in Relatives of Children with Beta Thalassemia Major.
CureusA Rare Case of Pulmonary Neuroendocrine Carcinoma in Transfusion-dependent Thalassemia Patient: Clinical Presentation, Management, and Implications.
Acta medica IndonesianaImpact of met-haemoglobin and oxidative stress on endothelial function in patients with transfusion dependent β-thalassemia.
Scientific reportsUpregulation of miR‑6747‑3p affects red blood cell lineage development and induces fetal hemoglobin expression by targeting BCL11A in β‑thalassemia.
Molecular medicine reportsGene Therapy: A Revolutionary Step in Treating Thalassemia.
Hematology reportsThe gut microbiota metabolite trimethylamine-N-oxide in children with β-thalassemia: potential implication for iron-induced renal tubular dysfunction.
Pediatric researchEVALUATION OF PROTEIN C AND S IN Β-THALASSEMIA MAJOR.
Georgian medical newsImpact of Empagliflozin on the Outcomes of β-Thalassemia Major in Patients With Type 2 Diabetes Mellitus: The THALEMPA Observational Study.
Cureusβ-Thalassemia Major Complicated by Acute Myeloid Leukemia.
CureusIron overload and liver function in patients with beta thalassemia major: A cross sectional study.
Pakistan journal of medical sciencesBone Mineral Density, Osteoporosis Prevalence and Influential Factors in Osteogenesis in Patients with Beta Thalassemia Major: A Cross-Sectional Study.
Iranian journal of public healthKnowledge, attitude and acceptance regarding bone marrow transplantation in caregivers of beta-thalassemia major patients.
Journal of community geneticsHistone modifications of circulating nucleosomes are associated with changes in cell-free DNA fragmentation patterns.
Proceedings of the National Academy of Sciences of the United States of AmericaAn Unexpected Detection of the Rare 48,XXYY in the Prenatal Diagnosis of a Fetus with β-Thalassemia Major.
Clinical laboratoryAntioxidative effects of N-acetylcysteine in patients with β-thalassemia: A quick review on clinical trials.
Health science reportsEarly detection of myocardial iron overload in patients with β-thalassemia major using cardiac magnetic resonance T1 mapping.
Magnetic resonance imagingA rare glimpse of Fessas bodies in a patient with β-thalassemia major postsplenectomy.
BloodThe effect of applying emotional intelligence components on coping strategies in adolescents with beta-thalassemia major: a randomized clinical trial.
BMC pediatricsEffectiveness of topical 25% silver nitrate solution followed by 5% fluoride varnish compared to 38% silver diamine fluoride in arresting and preventing dental caries among beta-thalassemia major patients: A randomized clinical trial.
Journal of dentistryAcute and Chronic Effects of Interval Aerobic Exercise on Hepcidin, Ferritin, and Liver Enzymes in Adolescents With Beta-Thalassemia Major.
Pediatric exercise scienceEvaluation of myocardial strain using cardiovascular magnetic resonance imaging in patients with β-thalassemia major.
Journal of cardiovascular imagingAssessment of Serum Vitamin D and Parathyroid Hormone in Children With Beta Thalassemia Major: A Case-Control Study.
CureusComparison of oral iron chelators in the management of transfusion-dependent β-thalassemia major based on serum ferritin and liver enzymes.
F1000ResearchRed Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report.
CureusAn Investigation of Group-Based Mobile Learning on Stress, Anxiety, Depression, and Pain Among Beta-Thalassemia Major Patients: A Randomized Control Trial.
Turkish archives of pediatricsCorrelation of Electrocardiographic and Echocardiographic Changes with Serum Ferritin Level in Multi-Transfused β-Thalassemia Major Patients.
Indian journal of pediatricsBeta-Thalassemia Major and Myocardial Iron Overload: A Longitudinal Study with Magnetic Resonance Imaging.
Cardiology research and practiceGlobal and regional cardiac magnetic resonance feature tracking left ventricular strain analysis in assessing early myocardial disease in β thalassemia major patients.
Journal of cardiovascular imagingSoluble Fms-like tyrosine kinase-1 as an endothelial dysfunction biomarker associated with pulmonary hypertension in adult patients with beta-thalassemia major.
Journal of investigative medicine : the official publication of the American Federation for Clinical ResearchMultidisciplinary Management of Oral Manifestations in Pregnant Women with Beta-Thalassemia Major: A Case Report.
International medical case reports journalAssociation of serum ferritin trends with liver enzyme patterns in β-thalassemia major: A longitudinal correlational study.
Journal of family medicine and primary careAssessing Psychological Disorders in Turkish Adolescents with Transfusion-Dependent Thalassemia.
Children (Basel, Switzerland)Manuka combinations with nigella sativa and hydroxyurea in treating iron overload of pediatric β-thalassemia major, randomized clinical trial.
HeliyonSerum visfatin level in β-thalassemia and its correlation with disease severity.
Journal of medicine and lifeNeuroimaging in the diagnosis and treatment of cerebral toxoplasmosis in children with severe β-thalassemia after allo-HSCT.
Biomolecules & biomedicineThe effect of blood transfusion on serum hepcidin levels in chronically transfused patients of β-thalassemia major: An observational study in a tertiary care centre in Western Maharashtra.
Asian journal of transfusion scienceMultisystem inflammatory syndrome in children with COVID-19 in a multitransfused patient.
Asian journal of transfusion scienceHematopoietic Stem Cell Transplantation in Children with Sickle Cell Disease and Thalassemia Major: A National Database Study.
Pediatric hematology and oncologyHealth-related Quality of Life of Omani Adult Patients with β-Thalassemia Major at Sultan Qaboos University Hospital.
Oman medical journalGlobal longitudinal strain by cardiac magnetic resonance is associated with cardiac iron and complications in beta-thalassemia major patients.
International journal of cardiologyCross-sectional study on the impact of cardiac and hepatic iron overload, as measured by MRI T2*, on the quality of life in children with severe beta-thalassemia major.
MedicineGenetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.
Biochemical geneticsPrevalence of HIV, hepatitis B and hepatitis C infections among patients with thalassemia attending a tertiary care (rural) hospital.
Journal of family medicine and primary careOutcome of Cyclophosphamide Treatment Following Hematopoietic Stem Cell Transplantation in a Thalassemia Patient: A Case Study.
Iranian journal of immunology : IJIExploring the Clinical and Hematological Characteristics of Beta-Thalassemia Trait: A Comprehensive Analysis in a Tertiary Care Hospital Setting.
CureusHow Age, Sex and Transfusion Affects the Incidence of Endocrine and Bone Density Disorders in Major Thalassemic Patients.
Iranian journal of public healthBeta-Thalassemia in Adulthood Previously Suspected as Treatment-Resistant Iron Deficiency Anemia: A Case Report.
CureusCapnocytophaga canimorsus Meningitis Complicated by Septic Shock: The Use of Extracorporeal Blood Purification Techniques.
CureusHHV6-Associated Hydrocephalus in a Pediatric Hematopoietic Stem Cell Transplant Recipient: An Unusual Presentation.
Journal of pediatric hematology/oncologyEffects of Splenectomy on Natural Killer Cell Levels in β-Thalassemia Major Patients.
Journal of clinical laboratory analysisCOMPARATIVE STUDY OF OXIDATIVE STRESS IN PATIENTS WITH Β -THALASSEMIA MAJOR ON DEFERASIROX VERSUS DEFEROXAMINE THERAPY.
Georgian medical newsAssociações
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Antioxidant Effects of CoQ10 in Transfusion-Dependent β-Thalassemia Major Patients: Implications for Ferroptosis-Related Pathways.
- Clinical integration of red cell genotyping in children with β-thalassemia major: a prospective observational study.
- Altered cerebral morphometry and individual-based morphological brain network in children with beta-thalassaemia major.
- Effect of Closed Kinetic Chain Exercise Via Telerehabilitation on Muscle Strength, Balance, Fatigue and Hemoglobin Levels in Beta Thalassemia Major Children: A Randomized Controlled Trial.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41522555mais citado
- Role of Serum Apelin and Carotid Artery Intima Thickness in Predicting Early Atherosclerotic Changes in Children With Beta-Thalassemia Major.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41522554mais citado
- Non-invasive prenatal diagnosis of beta-thalassemia disease using digital PCR.
- Reduced number of endothelial progenitor cells in adult patients with beta thalassemia major.
- "Assessing Long-Term Health-Related Quality of Life in Children with β-Thalassemia Major Following Hematopoietic Stem Cell Transplantation" - A Cross-Sectional Comparative Study.
- Comparative Study of Ferritin Levels between Two Generic Formulations of Deferasirox in Sri Lankan Patients with Beta-Thalassemia Major.
- Assessment of Serum Ferritin, Thyroid Profile and Calcium Homeostasis in Beta-Thalassemia Major Patients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:231214(Orphanet)
- MONDO:0016486(MONDO)
- Talassemia(PCDT · Ministério da Saúde)
- GARD:17162(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56013833(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
