A beta-talassemia (BT) é caracterizada pela deficiência (Beta+) ou ausência (Beta0) da síntese das cadeias beta globina da hemoglobina (Hb).
Introdução
O que você precisa saber de cara
A beta-talassemia (BT) é caracterizada pela deficiência (Beta+) ou ausência (Beta0) da síntese das cadeias beta globina da hemoglobina (Hb).
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 28 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 82 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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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 dominant, 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: Ribonucleoside-diphosphate reductase RR1 inhibitor
Mecanismo: Inhibin beta A chain inhibitor
Mecanismo: Transmembrane protease serine 6 mRNA antisense inhibitor
Mecanismo: Hemoglobin beta chain exogenous gene
Variantes genéticas (ClinVar)
615 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 502 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 — Beta-talassemia
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
19 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
347 ensaios clínicos encontrados, 29 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 4.830
Clinical integration of red cell genotyping in children with β-thalassemia major: a prospective observational study.
Este estudo revela que a tipagem sanguínea tradicional em pacientes com beta-talassemia maior é imprecisa em quase metade dos casos (49%), resultando em discrepâncias significativas entre o fenótipo e o genótipo. A implementação da genotipagem de células vermelhas do sangue melhorou imediatamente a prática transfusional para metade dessas crianças, permitindo uma correspondência mais precisa de antígenos. Isso é crucial para evitar complicações como o desenvolvimento de aloanticorpos e pode ajudar a mitigar o acúmulo de ferro no fígado, tornando a genotipagem essencial para transfusões mais seguras e eficazes.
🇧🇷 traduzidoCRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.
Esta revisão sistemática destaca que a tecnologia CRISPR demonstrou sucesso no tratamento da beta-talassemia em ensaios clínicos, permitindo uma alta independência de transfusões e a eliminação das crises da doença. Isso oferece grande potencial para pacientes e médicos, sugerindo uma alternativa transformadora para essa condição hematológica. Contudo, desafios como a otimização dos sistemas de entrega e a minimização de efeitos secundários ainda precisam ser superados para sua aplicação generalizada.
🇧🇷 traduzidoCirc_0001428 regulates erythropoiesis and γ-globin expression via activating the ATF4-BCL11A axis in β-thalassemia.
Este artigo identifica que o RNA circular circ_0001428 é um novo regulador da produção de glóbulos vermelhos e da expressão da hemoglobina fetal (globina gama) em pacientes com beta-talassemia. Ele atua através de uma via molecular específica (circ_0001428/miR-32-3p/miR-325-3p/ATF4/BCL11A/γ-globin). Esta descoberta sugere que a modulação dessa via representa um potencial alvo terapêutico para aumentar os níveis de hemoglobina fetal, o que poderia beneficiar significativamente o tratamento da beta-talassemia.
🇧🇷 traduzidoGenetic variations and clinical implications of B-thalassemia in Iraqi population.
Este estudo sobre a betatalassemia no Iraque identificou 18 mutações genéticas, incluindo duas novas, e mostrou que quatro mutações patogênicas específicas estão fortemente associadas a problemas clínicos no sangue, metabolismo e saúde óssea. Essas descobertas são cruciais para médicos e pacientes, pois permitem aprimorar o diagnóstico, desenvolver tratamentos mais direcionados e otimizar o aconselhamento genético, visando reduzir as complicações a longo prazo nos indivíduos afetados.
🇧🇷 traduzidoRed Blood Cell Metabolomic Signatures in β-Thalassemia Heterozygotes With Elevated HbA1c: Implications for Biomarkers and Personalized Medicine.
Este estudo revelou que, em indivíduos com beta-talassemia heterozigótica, o exame de HbA1c (utilizado para monitorar o açúcar no sangue) pode subestimar os níveis reais de glicose, sendo significativamente mais baixo e afetando a interpretação do controle glicêmico. A pesquisa identificou assinaturas metabólicas distintas nos glóbulos vermelhos desses pacientes, com alterações no metabolismo redox e do heme. Essas descobertas abrem caminho para o desenvolvimento de novos biomarcadores complementares que possam avaliar a glicemia de forma mais precisa em pessoas com talassemia e outras hemoglobinopatias, auxiliando médicos no manejo e pacientes no controle da doença.
🇧🇷 traduzidoPublicações recentes
G6PD variants but not Filipino beta-thalassemia are associated with reduced risk of Plasmodium knowlesi infection in Sabah, Malaysia.
miR-192-5p as a Potential Diagnostic Biomarker for β-Thalassemia and Its Regulatory Mechanism via Targeting BCL11A.
Luspatercept: From Bench to Bedside and Beyond in the Management of Ineffective Erythropoiesis.
Non-invasive prenatal diagnosis of beta-thalassemia disease using digital PCR.
Reduced number of endothelial progenitor cells in adult patients with beta thalassemia major.
📚 EuropePMC4.257 artigos no totalmostrando 199
Elevated Fatty Acid Binding Protein 4 (FABP4) Associated With Liver Damage and Kidney Complications in Thalassemia Patients.
BioMed research internationalExperience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India.
Indian journal of pediatricsA dual-modal machine learning framework integrating red blood indices and smartphone-captured microscopic images for β-thalassemia screening.
BMC medical informatics and decision makingHbS-β thalassemia mimicking HbSS on DdeI RFLP: Report of a pitfall circumventable by Sanger sequencing and parental testing.
Blood cells, molecules & diseasesCompound Heterozygous Hemoglobin E-Beta (HbE-β)-Thalassemia Presenting With Chipmunk or Rodent Facies, and a Severe Thalassemia Major Phenotype.
CureusMultimodal evidence chain of iron overload, inflammation, and dysfunction: an integrated predictive model of early cardiac injury in pediatric transfusion-dependent β-thalassemia.
Frontiers in cardiovascular medicinePatient-Reported Outcomes With Luspatercept Through 5 Years of Treatment in Patients With Non-Transfusion-Dependent β-Thalassemia Treated in the BEYOND Trial.
European journal of haematologyClinical integration of red cell genotyping in children with β-thalassemia major: a prospective observational study.
Blood global hematologyVamifeport, a clinical stage oral ferroportin inhibitor, alleviates murine lupus nephritis: A pilot study.
Clinical immunology (Orlando, Fla.)Genetics and Genomics in Sickle Cell Disease in Africa.
American journal of hematologyFrom Iron Deficiency to Overload: A Missing Link in the Mechanisms of Cardiac Autonomic Nervous System Dysfunction.
Journal of clinical medicineRegulation of BCL11A DNA binding and expression in human erythrocyte precursor HUDEP-2 cells.
bioRxiv : the preprint server for biologyClinical and Hematological Characteristics of Vietnamese Heterozygous Hb Tak/β-Thalassemia Patients: A Four-Case Series.
Mediterranean journal of hematology and infectious diseasesAssociation 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 diseasesCRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.
Human gene therapyComparative Analysis of Erythroferrone and Hepcidin as Emerging Biomarkers of Iron Homeostasis in Patients with β-Thalassemia Major: A Case-Control Study from Pakistan.
HemoglobinDiagnostic accuracy of hematological indices and logistic regression for β-thalassemia carrier screening in children.
MedicineCirc_0001428 regulates erythropoiesis and γ-globin expression via activating the ATF4-BCL11A axis in β-thalassemia.
Cellular and molecular life sciences : CMLSCRISPR in Thalassemia: Global Research Trend Analysis.
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 AssociationGenetic variations and clinical implications of B-thalassemia in Iraqi population.
PloS oneRed Blood Cell Metabolomic Signatures in β-Thalassemia Heterozygotes With Elevated HbA1c: Implications for Biomarkers and Personalized Medicine.
Journal of diabetes science and technologyDarbepoetin therapy for anaemia and orthostatic presyncope and palpitations in a woman with beta-thalassemia minor and possible postural orthostatic tachycardia syndrome.
Obstetric medicineCurrent Status of Clinical Gene Therapy for Hemophilia and Globin Disorders.
Journal of blood medicineFirst Case of Hb City of Hope (HBB: c.208G > A) in Andalusia. A Molecular Update of β-Thalassemia in Southwestern Spain (Huelva Province).
HemoglobinManagement of CMV Pneumonia, DAH, and BOS Following HSCT in a Child with β-Thalassemia: A Case Report.
Journal of inflammation researchA novel HBD gene mutation associated with normal-range hb A2 in β-thalassemia carriers.
Annals of hematologyUtility of First-Line Diagnostic Tests and Molecular Methods for Accurate Characterization of Sickle Cell Disorders.
International journal of laboratory hematologyBehind the splenomegaly: a parasitic twist in siblings with beta thalassemia trait.
BMC pediatricsA Multifactorial Presentation of Infection and Thrombosis: Temporal Clustering of Pneumonia, Hepatic Abscess, Bilateral Deep Vein Thromboses (DVTs), and Appendicitis in a Child.
CureusReproductive Endocrine Stability Despite Persistent Hypogonadism in Well-Chelated Adult Women with Transfusion-Dependent β-Thalassemia.
Journal of clinical medicineCurative Approach to the Treatment of Beta-Thalassemia and Sickle Cell Disease with Hematopoietic Stem Cell Transplantation.
Journal of clinical medicineSystematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.
Journal of clinical medicineTherapeutic Potential of Deferiprone-Resveratrol Hybrid (DFP-RVT) Against Hepatic Iron Overload in β-Thalassemia Mice: A Proteomic Analysis.
BiomoleculesEmerging Considerations in Transfusion Medicine: Hematopoietic Stem and Progenitor Cell Collection for Gene Therapy for Sickle Cell Disease and Transfusion-Dependent Thalassemia.
Clinics in laboratory medicineAn Integrated Genotyping Strategy for α/β-Thalassemia: Based on the Analysis of the Coding Sequences and Expression Levels of HBA2, HBA1, and HBB in Peripheral Blood mRNA.
Journal of clinical laboratory analysisDifficult Cases in the Diagnosis of Thalassemia Syndromes.
HemoglobinVitamin B12 Deficiency Does Not Induce Homocysteine Increase in Transfusion-Dependent β-Thalassemia Major Patients Receiving Folic Acid Supplementation.
HemoglobinPulmonary hypertension in beta thalassemia: a prospective cohort study on treatment outcomes and cardiopulmonary function.
Acta cardiologicaImpact of Beta-Thalassemia Trait on Clinical Outcomes and Treatment Response in Chronic Myeloid Leukemia.
CureusMolecular Genetics and Recent Management Strategies of HB E-β Thalassemia.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionSynergistic Potential of Thalidomide and Hydroxyurea in Sickle Cell Disease Management: A Promising Combination Therapy.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionHow I manage luspatercept in transfusion-dependent beta-thalassemia.
HemaSpherePrediction of β-thalassemia carrier using federated learning and explainable AI.
Frontiers in medicineWhen HbA1c looks "too high": two practical clarifications for endocrine screening in chelated β-thalassemia major.
Therapeutic advances in endocrinology and metabolismSafety and efficacy of hemobeglogene autotemcel(hemo-cel) gene therapy in five patients with transfusion-dependent β-thalassemia.
Molecular therapy : the journal of the American Society of Gene TherapyMLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.
Journal of translational medicineMachine learning and AI-Assisted red blood cell morphology analysis for effective thalassemia screening.
Annals of hematologyEndothelial dysfunction and cardiac damage indicators in patients with β-thalassemia major under iron-chelation therapy.
Therapeutic advances in hematologymiRNA-Mediated Regulation of γ-Globin to β-Globin Switching: Therapeutic Potential in β-Hemoglobinopathies.
International journal of molecular sciencesComprehensive expression of long non-coding RNAs and association with iron and erythropoiesis regulatory proteins in transfusion-dependent β-thalassemia.
Archives of medical science : AMSAssessing Cardiac Mechanical Dysfunction in Transfusion-Dependent β-Thalassemia With History of Atrial Fibrillation: The Role of Speckle Tracking Echocardiography.
Echocardiography (Mount Kisco, N.Y.)Beta-Thalassemia Major Complicated by Streptococcal Toxic Shock Syndrome: A Rare Case of Survival and Successful Management.
Case reports in hematologyMesangial sclerosing glomerulopathy following luspatercept treatment - a case report.
BMC nephrologyOvercoming transfusion-refractory anemia: partial splenic embolization to facilitate orthopedic surgery in β-thalassemia.
Annals of hematologyTherapeutic potential of polyphenols in managing thalassemia: A comprehensive review.
Avicenna journal of phytomedicine[Genetic screening and typing study of Thalassemia among ethnic Miao Group in Qianxinan area of China].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsImpact of iron chelation therapy on thyroid function in beta-thalassemia major patients from Pakistan.
Scientific reportsSubtype Distribution and Mutation Spectrum of Thalassemia in Children Under 10 Years in Northern Vietnam.
Mediterranean journal of hematology and infectious diseasesEnd-of-Life Care in Sickle Cell Disease and Transfusion-Dependent β-Thalassemia: Clinical, Psychosocial, and Ethical Considerations.
Mediterranean journal of hematology and infectious diseasesVoluntary thalassemia screening: behaviours and constructs among youths from a thalassemia hot spot in Sri Lanka.
BMC research notesRed 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 hematologyMany faces of non‑deletional α‑thalassaemia variants in neonate and early childhood.
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.
HemoglobinEconomic burden of non-transfusion-dependent thalassemia in the United States.
Journal of medical economicsFunctional correction and genome integrity with duplex base editing of β-thalassemic hematopoietic stem cells.
Genome biologyAdult survivors of sickle cell disease, transfusion-dependent beta-thalassaemia and childhood acute leukaemia in England: protocol for a mixed methods data linkage and health-related quality of life survey study.
BMJ openUGT1A6 variants and deferiprone-induced ADRs: a complication-specific analysis in Iranian thalassemia patients.
PharmacogenomicsDetection of β-Thalassemia Mutations in Term Neonates with HbA ≤15% Using Capillary Electrophoresis and Molecular Analysis.
Fetal and pediatric pathologyAltered cerebral morphometry and individual-based morphological brain network in children with beta-thalassaemia major.
NeuroscienceBeyond the Exome: The Role of Noncoding and Regulatory Variants in Monogenic Diseases.
Current issues in molecular biologyInterpretable machine learning models for beta thalassemia prediction: an explainable AI approach for smart healthcare 5.0.
Frontiers in medicinePrevalence of Severe Thalassemia and Performance of Prenatal Screening Tests Among Pregnant Women at Siriraj Thalassemia Center in Thailand.
Clinical and translational scienceEffect of Epigallocatechin-3-Gallate on Depression-Related Cytokines in Thalassemia Patients: Molecular and Cellular Evaluation.
Journal of clinical laboratory analysisAssociation of CYP2C19 gene single nucleotide polymorphisms (rs12248560 and rs4244285) with response to thalidomide in transfusion dependent β-thalassemia patients- a 12-months follow-up study.
PharmacogenomicsTaurine intake ameliorates lactic acidosis and hyperferritinemia occurring after mRNA SARS-CoV-2 vaccination in a patient with β-thalassemia trait: a case report and review of literature.
Journal of medical case reportsTwo Novel SUPT5H Variants Causing β-Thalassemia Trait Phenotypes.
HemoglobinFunctional Abnormalities of the Endocrine System in Beta-Thalassemia Major Patients: Insights From a Hospital-Based Observational Study.
CureusAdaptation of lentiviral vectors for viral gene therapy and their impact on host cell biology.
Journal of translational medicineVaso-Occlusive Thrombotic Ischemic Colitis Presenting With Large-Volume Hematochezia in Sickle Cell Beta+-Thalassemia.
ACG case reports journalQuantification of Myocardial Iron and Fat - An Experimental Study with Photon-Counting Detector CT.
The British journal of radiologyErythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis.
HemaSphereAtrial fibrillation prevalence and its management in aging transfusion-dependent thalassemia patients: the FATHAL study.
Blood advancesCase series: a rare dominant form of β-thalassemia successfully treated by luspatercept.
Annals of hematologyFirst 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 biophysicsEnhanced induction of fetal hemoglobin by the combination of decitabine with RN-1 in β-thalassemia/HbE erythroid progenitor cells.
Molecular medicine (Cambridge, Mass.)HbE/β-thalassemia presenting with Moyamoya angiopathy-associated ischemic stroke and noncompressive intrathoracic extramedullary hematopoiesis.
Neurology perspectivesT1 mapping and speckle tracking echocardiography for the assessment of early mechanical dysfunction in transfusion-dependent β-thalassemia with normal T2.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance[Epidemiological, clinical, angiographic and therapeutic features of sickle cell retinopathy in Burkina Faso].
Journal francais d'ophtalmologieAdult-Onset β-Thalassemia Major as Acquired Imprinting Disorder.
American journal of hematologyNanopore long-read sequencing reveals a novel 3.4-kb HBB deletion causing β-thalassemia in prenatal diagnosis: a case report.
QJM : monthly journal of the Association of PhysiciansEstablishing hemoglobin A, F, A2 reference intervals in neonatal cord blood and clinical decision values for β-thalassemia genetic testing.
Current research in translational medicineLong-term efficacy and safety results of betibeglogene autotemcel gene therapy for transfusion-dependent β-thalassemia.
BloodEffect 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 TransfusionGenetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.
The Indian journal of medical researchIneffective Erythropoiesis Markers in β-Thalassemia: A Systematic Review.
Journal of clinical medicineA Retrospective Analysis of Blood Component Utilization and Transfusion-Related Factors in a Diverse Patient Population.
Healthcare (Basel, Switzerland)A New Method for Screening Thalassemia Patients Using Mid-Infrared Spectroscopy.
Diagnostics (Basel, Switzerland)The second reported case of a hemolytic transfusion reaction caused by anti-Sc2: a clinical diagnosis.
ImmunohematologyBeta-thalassemia and a missing malaria landscape.
Trends in parasitology[The Role of MiR-709 in Erythroid Development and Its Correlation with Multiple Hematological Diseases].
Zhongguo shi yan xue ye xue za zhi[Analysis of Gene Types and Clinical Characteristics of Thalassemia in Children in Nanchong Area].
Zhongguo shi yan xue ye xue za zhi[Screening Results of Thalassemia and Analysis of Rare Genotypes].
Zhongguo shi yan xue ye xue za zhiClosing the gap: do we need a framework for embedding equity in health technology assessment?
International journal of technology assessment in health careThe Utility of HbA1c and Fructosamine in Evaluating the Glucose Tolerance in Adult Patients with Transfusion-Dependent Beta-Thalassemia.
Indian journal of endocrinology and metabolism[Beta thalassaemia: a surprising radiological image].
Nederlands tijdschrift voor tandheelkundeClinical Applications of Ligand Traps Targeting Activin Type II Receptors.
Anti-inflammatory & anti-allergy agents in medicinal chemistryRising Star Engineering the Genome for Curative Futures.
Journal of molecular biologyManagement of transfusion-dependent β-thalassaemia in the era of novel therapies: a prioritisation-based matrix for settings with limited resources.
The Lancet. HaematologyOvarian function compromise in pediatric beta-thalassemia major: a consequence of iron overload-induced mitochondrial and fibrotic damage.
Human reproduction (Oxford, England)Hb Yongning [β1 (NA1) Val→Leu; HBB:C.4G > C]: A Novel Hemoglobin Variant Causing Significant Interference in Common Glycated Hemoglobin Assays.
HemoglobinTherapeutic applications of CRISPR-Cas9 gene editing.
Frontiers in genome editingEpidemiological Profile of Haemoglobinopathies in Different Districts of West Bengal: A Retrospective Study.
Nigerian medical journal : journal of the Nigeria Medical AssociationAssociation of IL28B Polymorphisms With Hepatitis C Susceptibility in Southern Iran's β-Thalassemia Population: A Cross-Sectional Study.
Health science reportsHost Immunogenetics and Chronic HCV Infection Shape Atopic Risk in Pediatric Beta-Thalassemia: A Genotype-Phenotype Study.
GenesGene Therapy of Beta Hemoglobinopathies.
BiomedicinesA Rare Combination of Hereditary Folate Malabsorption (SLC46A1 Gene Variant) and Beta-Thalassemia Trait.
EJIFCCTargeting LncRNAs with CRISPR/Cas9 for Kidney Therapeutics: A Review.
International journal of biological macromoleculesHaematological indices as screening tool in distinguishing beta thalassemia trait and iron deficiency anaemia: Insights from a tertiary hospital study.
The Medical journal of MalaysiaIdentification of RBM3 as a novel regulator of human fetal hemoglobin expression.
International immunopharmacologyNutritional deficiencies among adults with beta thalassemia major in Vietnam.
Public health nutritionCarrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.
Human genomicsEndocrine complications in patients with β-thalassemia major receiving iron-chelation therapy.
Therapeutic advances in endocrinology and metabolismAnalysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.
International journal of general medicineCRISPR editing of HPFH3 genotype induces γ-globin expression and reverses sickle cell disease and β-thalassemia phenotypes.
Stem cell research & therapyNovel LRF/ZBTB7A variants and known HbF-modulating SNPs in transfusion-dependent β-thalassemia.
BMC medical genomicsLowering cyclosporine trough concentration threshold effectively mitigates acute graft-versus-host disease in children with severe β-Thalassemia post hematopoietic stem cell transplantation.
European journal of clinical pharmacologyp27Kip1 regulates γ-globin production.
BloodFragmented 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 PractitionersGenosomes: An Introspection into Transfection, Future Perspectives and Applications.
Advanced pharmaceutical bulletinPatra index and Mentzer index - A retrospective comparative study to differentiate Beta-Thalassemia Trait from iron deficiency anemia.
Journal of family medicine and primary careFrequency of Zinc Deficiency Among Thalassemia Major Patients: A Comparative Cross-Sectional Study.
CureusIron-associated central macular ganglion cell complex thinning and choroidal vascularity index elevation in transfusion-dependent β-thalassemia: potential OCT/OCTA biomarkers.
BMC ophthalmologyPerformance of the automated DNA extraction with MagNA Pure 24 for further genetic testing for hemoglobinopathies with Globin StripAssays.
Wiener klinische WochenschriftFamily trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi.
BMC medicineIdentification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of HBB: C.84_85insC and Common Linked Intronic Variants in HBB.
HemoglobinA Cross-Sectional Study on Pain and Quality of Life of Adult Patients with Transfusion-Dependent Thalassemia in a Tertiary Hospital In Malaysia.
HemoglobinLiver Tissue Mapping in Transfusion-Dependent β-Thalassemia: Reproducibility and Clinical Insights from Multiparametric MRI.
Diagnostics (Basel, Switzerland)Determinants of intertransfusion interval in children with transfusion-dependent thalassemia: a retrospective single-center cohort study in China.
Translational pediatricsConfounding Factors in the Diagnosis of Hereditary Spherocytosis and Gallstone Formation in Related Hemolytic Disorders From a Tertiary Care Center in North India.
Cureus[Application of the failure mode and effects analysis (FMEA) to the pharmaceutical process of Casgevy®, an ex vivo gene therapy medicinal product for beta-thalassemia].
Annales pharmaceutiques francaisesThalassemia and hypercoagulability.
Hematology. American Society of Hematology. Education ProgramDiscovery of a Novel DNMT1 Inhibitor with Improved Efficacy in Treating β-Thalassemia.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Downregulation of ZBTB7A/LRF increases fetal hemoglobin expression in β0-thalassemia/hemoglobin E erythroid cells.
Scientific reportsTrabecular bone score in the assessment of bone health in thalassemia major.
Frontiers in endocrinologyRare variant hemoglobin Köln in Southern India-an underdiagnosed entity?
Journal of hematopathologyMAZ regulates fetal hemoglobin repression by activating MYB transcription.
Scientific reportsThe Application of Machine-Learning Algorithms for Multiclass Classification of Microcytic Anemia Revealed That a Minimum Required Number of Hematological Parameters Is Enough to Achieve High Diagnostic Accuracy.
International journal of laboratory hematologyA 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.
AnemiaEpidemiology and economic burden of selected rare genetic diseases in Germany - a claims database study.
Orphanet journal of rare diseasesBase editing of β0-thalassemia mutations as a therapeutic strategy for severe β-hemoglobinopathies.
Science translational medicineMetabolomic Investigation of Myelodysplastic Syndromes, Multiple Myeloma, and Homozygous β-Thalassemia.
CellsDeep Vein Thrombosis in a Patient With Thalassemia Minor: A Case Report.
Clinical case reportsSafety and pharmacodynamics of the ferroportin inhibitor vamifeport in patients with non-transfusion-dependent β-thalassemia: results from a randomized phase 2a study.
Orphanet journal of rare diseasesBlood that was far from red: hypertriglyceridaema thalassaemia syndrome: case report.
Paediatrics and international child healthPredicting the Double Heterozygotes of HbE and α-Thalassemia-1 (Southeast Asian Type) Using RapidMiner-Generated Hematologic Algorithm.
HemoglobinIFN-γ increases δ-globin gene expression through activation of the JAK/STAT pathway in erythroid cells.
BloodCord Blood-Based Neonatal Screening for Hemoglobinopathies in Northern Tunisia.
International journal of neonatal screeningGenotypic and hematological profiling of thalassemia in reproductive-age and pediatric populations.
Biomedical reportsImpact of transferrin levels on iron accumulation in transfusion-dependent beta-thalassemia: A genotype-specific analysis.
Journal of medical biochemistryReproductive Considerations of Gene Therapies for Sickle Cell Disease and Beta-Thalassemia.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCMolecular and structural characterization of a novel β-hemoglobinopathy caused by in Cis β-globin mutations in a Thai individual.
Scientific reportsMulti-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.
Nature communicationsThe development of an advanced lentiviral gene therapy for beta-thalassemia.
Biochemical and biophysical research communicationsBiventricular and bia-trial strain by cardiac magnetic resonance in thalassaemia intermedia: patterns and correlates.
Clinical radiologyCase Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing.
Frontiers in geneticsCardiovascular magnetic resonance derived pulmonary capillary wedge pressure in beta-thalassemia major: Clinical correlates and association with cardiac complications.
International journal of cardiologyQuantitative MRI iron load assessment in β-thalassemia patients beyond the liver and heart: A systematic review.
European journal of radiologyThe Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.
The application of clinical geneticsAdministration of green tea polyphenols mitigates iron-overload-induced bone loss in a β-thalassemia mouse model.
NPJ science of foodGene therapy for hemoglobinopathies: Clinical trial results and biology of hematopoietic stem cell and the bone marrow niche.
Cell reports. MedicinePredictive value of hepcidin and HIF1α protein levels for iron deposition in β-thalassemia.
European journal of pediatricsSingle-Position Peptide Clustering for Peptidomics Reveals Novel Disease Biomarkers and Dysregulated Proteolytic Characteristics.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)A direct multiplex isothermal amplification-reverse dot blot hybridization system for β-thalassemia diagnosis.
Annals of hematologyCellular and molecular targets in β-Thalassemia: advances in iron Regulation, Erythropoiesis, and Gene-Based therapies.
Functional & integrative genomicsPlacenta Percreta in the Absence of a Previous Uterine Scar.
CureusAssessment of Hepcidin-25 and Iron Status Profiles in Pregnant Women With Thalassemia Minor.
Journal of pregnancyMolecular identification and phenotypic study of a novel HBB: c.-23A>G mutation in the 5' untranslated region.
Frontiers in medicineCRISPR/Cas12a-SERS biosensor based on sea urchin-like AuNPs for the detection of β-thalassemia mutant gene CD31.
Mikrochimica actaGenetic Analysis and Clinical Relevance of HBA1:c.305T > C (Leu > Pro): A Novel Variant Linked to α-Thalassemia.
HemoglobinAccurate diagnosis of hemoglobinopathies with machine learning based on high-throughput proteomics.
HemaSphereFasting Plasma Glucose Levels within the High Normal Range are Associated with a Significantly Increased Risk of Future Dysglycemia in Transfusion-Dependent β Thalassemia: A Decade-Long Multicenter Retrospective Analysis.
Mediterranean journal of hematology and infectious diseasesPost-Load Plasma Glucose Increase (PG-gap) as a Risk Factor for Developing Dysglycemia in Patients with Transfusion-Dependent β-Thalassemia (β-TDT): Retrospective Analysis over 8 Years.
Mediterranean journal of hematology and infectious diseases[The Impact of Iron Overload on the Immune System in Patients with β-Thalassemia and Treatment Recommendations --Review].
Zhongguo shi yan xue ye xue za zhi[Analysis of Thalassemia Gene Variants in the Wuhan Region].
Zhongguo shi yan xue ye xue za zhiThe cognitive profiles of people with β - Thalassemia across the life span: a systematic review.
Psychology, health & medicineGenotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.
Frontiers in immunologyScreening, genetic analysis, and clinical transfusion implications of thalassaemia and glucose-6-phosphate dehydrogenase deficiency in blood donors.
Transfusion medicine (Oxford, England)Assessment of β-Thalassemia Trait Occurrence in an Outpatient Sample from Southern Chile: A Retrospective Study.
Diagnostics (Basel, Switzerland)Gene Therapies for Hemoglobinopathies: Efficacy, Cell Collection & Transfusion Support.
Transfusion medicine reviewsGenetic 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 reportsBeyond anemia: unraveling neutrophil defects and infection susceptibility in β-Thalassemia.
Blood researchAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Talassemias.
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.
- Clinical integration of red cell genotyping in children with β-thalassemia major: a prospective observational study.
- CRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.
- Circ_0001428 regulates erythropoiesis and γ-globin expression via activating the ATF4-BCL11A axis in β-thalassemia.
- Genetic variations and clinical implications of B-thalassemia in Iraqi population.
- Red Blood Cell Metabolomic Signatures in β-Thalassemia Heterozygotes With Elevated HbA1c: Implications for Biomarkers and Personalized Medicine.
- G6PD variants but not Filipino beta-thalassemia are associated with reduced risk of Plasmodium knowlesi infection in Sabah, Malaysia.
- miR-192-5p as a Potential Diagnostic Biomarker for β-Thalassemia and Its Regulatory Mechanism via Targeting BCL11A.
- Luspatercept: From Bench to Bedside and Beyond in the Management of Ineffective Erythropoiesis.
- Non-invasive prenatal diagnosis of beta-thalassemia disease using digital PCR.
- Reduced number of endothelial progenitor cells in adult patients with beta thalassemia major.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:848(Orphanet)
- MONDO:0019402(MONDO)
- Talassemia(PCDT · Ministério da Saúde)
- GARD:871(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q3616632(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
