A hepcidina é uma proteína que, em humanos, é codificada pelo gene HAMP. A hepcidina é um regulador chave da entrada do ferro para a circulação em mamíferos.
Introdução
O que você precisa saber de cara
Doença genética rara caracterizada por produção deficiente de hemoglobina beta, levando a anemia hemolítica, palidez, anisocitose e possíveis complicações cardiovasculares. Afeta a produção de glóbulos vermelhos, resultando em fadiga e outros sintomas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 35 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 96 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
6 genes identificados com associação a esta condição.
Involved in oxygen transport from the lung to the various peripheral tissues
Gamma chains make up the fetal hemoglobin F, in combination with alpha chains
Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Abl
Nucleus
Anemia, congenital dyserythropoietic, 4A
An autosomal dominant blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals also have increased levels of fetal hemoglobin.
Transcriptional activator or repressor which serves as a general switch factor for erythroid development (PubMed:35030251). It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781)
Nucleus
X-linked dyserythropoietic anemia and thrombocytopenia
Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes.
Gamma chains make up the fetal hemoglobin F, in combination with alpha chains
Cyanosis transient neonatal
A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain.
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)
144 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
17 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 e doenças relacionadas
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Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Publicações mais relevantes
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.
Adult 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.
Recent advances in treatment and care have improved survival rates for children and young adults with severe blood disorders such as sickle cell disease (SCD), transfusion-dependent beta-thalassaemia (TDT) and acute leukaemia. However, their quality of life and reproductive and psychosocial outcomes are not yet well studied. For SCD and TDT, robust survival data are mainly limited to North America. Thus, there is a need to fill these knowledge gaps to guide improvements in care, address unmet clinical needs and rigorously assess the efficacy of emerging novel therapies. This is an observational population-based mixed-methods study of individuals diagnosed with SCD, TDT or acute leukaemia when under the age of 18 in England, involving a data linkage component and a patient-reported outcomes measures survey. Data linkage-eligible participants will be identified from national and regional databases, including the Hospital Episode Statistics, Yorkshire Specialist Register of Cancer in Children & Young People and the National Congenital Anomaly and Rare Diseases Registration Service. Data linkage will be processed within the NHS England and the University of Leeds' secure, trusted research environments. Data will be accessed without consent under section 251 and approval by the confidentiality advisory group. It will assess survival rates for SCD and TDT as well as clinical, educational and mental health outcomes for SCD, TDT and acute leukaemia diagnosed in childhood.Survey-eligible participants for SCD, TDT and acute leukaemia cohorts will be checked for their suitability to participate by the North of England clinical care teams. An NHS-approved survey provider will facilitate data checks with the NHS National Data Opt-Out Service. Consent is required for participation in the survey and for subsequent data linkage to existing databases. Surveys are conducted in various formats (online, paper and phone), with reminders sent after 21 days. The survey will assess quality of life and psychosocial and reproductive outcomes. Participants can withdraw at any time, and support is available via telephone helplines. The study has received ethical and information governance approval from the Health Research Authority (Reference 24/YH/0186) and the Confidentiality Advisory Group (CAG 24/CAG/0138) to process identifiable data without consent. Study results will be available to patients, physicians, researchers, stakeholders and others through open-access publishing, results sharing via media platforms and presentations at conferences and meetings.
Nonclinical evaluation of renizgamglogene autogedtemcel for SCD and TDT.
Sickle cell disease and transfusion-dependent β-thalassemia can be treated by fetal hemoglobin upregulation. Disruption of the distal BCL11A binding site at the HBG1/2 promoters to induce fetal hemoglobin using either SpCas9 or AsCas12a mimics multiple hereditary persistence of fetal hemoglobin mutations. AsCas12a showed higher editing efficiency, higher specificity, and increased fetal hemoglobin induction potential compared with SpCas9. AsCas12a-edited healthy donor CD34+ cells exhibited long-term, multi-lineage, and polyclonal engraftment in immunocompromised mice. High-level fetal hemoglobin induction was observed in erythroid progeny derived in vivo from edited healthy donor CD34+ cells and sickle cell disease or transfusion-dependent β-thalassemia donor CD34+ cells in vitro. In erythroid cells from patients with sickle cell disease, gene editing reduced sickling and improved rheological behaviors under deoxygenated conditions. In erythroid cells from patients with β-thalassemia, gene editing ameliorated ineffective erythropoiesis and significantly increased hemoglobin content per cell. A comprehensive off-target editing evaluation in edited CD34+ cells showed AsCas12a to be highly specific, with no off-target editing detected. In summary, editing CD34+ cells at the HBG1/2 promoter distal BCL11A binding site using AsCas12a phenocopied hereditary persistence of fetal hemoglobin mutations, demonstrating its potential as a gene editing approach for the treatment of β-hemoglobinopathies.
Elevated Fatty Acid Binding Protein 4 (FABP4) Associated With Liver Damage and Kidney Complications in Thalassemia Patients.
Thalassemia is considered a significant health concern. Previous studies had shown that numerous adipokines, including fatty acid binding protein 4 (FABP4), might contribute to the development of complications in thalassemia. This study is aimed at investigating FABP4 levels in thalassemia major patients receiving regular blood transfusions as well as to explore the association between FABP4 and target organ functioning as kidney and liver. Serum samples were collected from 154 individuals with thalassemia major and subjected to various analyses, including hematological assessments, biochemical evaluations (kidney and liver functions), and immunological screenings using enzyme-linked immunosorbent assay (ELISA). Examination of sociodemographic and disease-related factors indicated osteoporosis emerging as the predominant comorbidity. Elevated ferritin levels, an increased platelets (PLT) count, higher nucleated red blood cell (NRBC) count, and elevated bilirubin (BIL) levels in patient serum were observed. Conversely, creatinine levels were significantly low, with a mean of 21.7 and 25.4 μmol/L in females and males, respectively. FABP4 levels exhibited more frequent increases in females of p value = 0.03, particularly in the age groups of (13-18, 19-30) years; respectively, FABP4 levels had a significant difference of p value = 0.003 with the aspartate aminotransferase/alanine aminotransferase (AST/ALT) ratio. A significant difference was seen between serum FABP4 and bilirubin and AST/ALT ratio, showing a connection between serum FABP4 and liver injury and kidney complications. Consequently, while further studies are essential for a comprehensive exploration of this hypothesis, serum FABP4 may have a potential role in chronic diseases in thalassemia patients.
Patient-Reported Outcomes With Luspatercept Through 5 Years of Treatment in Patients With Non-Transfusion-Dependent β-Thalassemia Treated in the BEYOND Trial.
In the phase 2, double-blind, randomized controlled BEYOND trial (NCT03342404), luspatercept increased hemoglobin levels in patients with non-transfusion-dependent β-thalassemia (NTDT). This study assessed long-term effects of luspatercept on patient-reported outcomes (PROs), using data from BEYOND and patients who continued luspatercept treatment in the phase 3b long-term follow-up (LTFU) study (NCT04064060). In BEYOND, patients received luspatercept or placebo Q3W for ≥ 48 weeks. PRO instruments included NTDT-PRO (BEYOND only), Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F), and 36-Item Short Form Survey (SF-36). Mixed-effects models with repeated measures estimated least squares mean changes from baseline in PROs. PROs were evaluable in 144 patients (luspatercept 95, placebo 49) from BEYOND and 58 (luspatercept) from LTFU. Luspatercept improved NTDT-PRO tiredness/weakness and shortness of breath domain, FACIT-F fatigue subscale, and SF-36 vitality scores versus placebo through double-blind treatment (generally maintained through week 96). In LTFU patients, significant, meaningful improvements from baseline in FACIT-F fatigue subscale and SF-36 vitality scores were observed within 12 weeks of treatment initiation and maintained for up to 5 years. Other FACIT-F and SF-36 domains improved or were maintained throughout LTFU. Luspatercept offers rapid and durable benefits by improving anemia-related symptoms and quality of life in patients with NTDT. Trial Registration: ClinicalTrials.gov Identifier: NCT03342404; NCT04064060.
Publicações recentes
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Evaluation of role of HPLC (Merits & Pitfalls), in the diagnosis of various hemoglobinopathies & thalassemic syndromes.
Diagnostic difficulty of beta-thalassemia syndrome in a multi-transfused patient: contribution of myelogram and studying parents.
[Sickle cell syndrome. Association between hemoglobin S and β thalassemia].
Etiopathological mechanisms and clinical characteristics of hyperhemolysis syndrome in Spanish patients with thalassemia.
📚 EuropePMCmostrando 200
Antioxidant Effects of CoQ10 in Transfusion-Dependent β-Thalassemia Major Patients: Implications for Ferroptosis-Related Pathways.
Journal of blood medicineElevated Fatty Acid Binding Protein 4 (FABP4) Associated With Liver Damage and Kidney Complications in Thalassemia Patients.
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Italian journal of pediatricsPotential applications of components of aged garlic extract in mitigating pro-inflammatory gene expression linked to human diseases (Review).
Experimental and therapeutic medicine[Delayed physical growth and related factors in pediatric patients with transfusion-dependent thalassemia].
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Current research in translational medicineA comprehensive case study of deep learning on the detection of alpha thalassemia and beta thalassemia using public and private datasets.
Scientific reportsHealth-related quality of life and economic impacts in adults with transfusion-dependent β-thalassemia: findings from a prospective longitudinal real-world study.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationEvaluated NSUN3 in reticulocytes from HbH-CS disease that reflects cellular stress in erythroblasts.
Annals of hematologyOutcome of Haematopoietic Stem Cell Transplant in Beta-Thalassaemia Major: Single Centre Experience from a Low- and Middle-Income Country.
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Molecular genetics and genomics : MGGA rare -α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple.
Hematology (Amsterdam, Netherlands)Rickettsia Felis Case Cluster in a Military Family.
Military medicineApplication value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review.
Orphanet journal of rare diseasesClinical Outcomes Among Patients With Sickle Cell Disease and Transfusion-Dependent Beta-Thalassemia Treated With Allogeneic Hematopoietic Stem Cell Transplantation: A Systematic Literature Review.
Journal of blood medicineBiosensing of single-nucleotide polymorphism: Technological advances and their transformative applications on health.
Biosensors & bioelectronicsUnusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H Variants.
HemoglobinA challenging convergence of conditions in a patient with thalassemia major presenting with thymoma and lymphangioleiomyomatosis: a case report.
Journal of medical case reportsKawasaki-like illness following COVID-19 infection in a minor β-thalassemic girl.
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Journal of Ayub Medical College, Abbottabad : JAMCCreating New Cis-Regulatory Elements of HBD to Reactivate Delta-Globin.
Human gene therapyComparative analysis of mortality patterns and treatment strategies in thalassaemia and sickle cell disease patients: A 12-year study.
British journal of haematologyExperiences of family caregivers of children living with thalassaemia-major in Karachi: a phenomenological study.
BMJ public healthNovel AK-1 gene variants combined with thalassemia causing rare hereditary non-spherocytic hemolytic anemia in a Chinese family.
Annals of hematologyRapid detection of genetic modifiers of β-thalassemia based on MALDI-TOF MS.
Annals of hematologyExperiences of traumatized mothers caring for their thalassemia children after the earthquakes in Turkey and their expectations from nurses: a qualitative study.
BMC nursingTwo Nonmyeloablative HLA-Matched Related Donor Allogeneic Hematopoietic Cell Transplantation Regimens in Patients with Severe Sickle Cell Disease.
Transplantation and cellular therapyExploratory Review and In Silico Insights into circRNA and RNA-Binding Protein Roles in γ-Globin to β-Globin Switching.
CellsLong-term efficacy and safety of luspatercept for the treatment of anaemia in patients with transfusion-dependent β-thalassaemia (BELIEVE): final results from a phase 3 randomised trial.
The Lancet. HaematologySuccessful Second Hematopoietic Stem Cell Transplantation Using Total Body Irradiation-Based Conditioning for Children With Transfusion-Dependent Beta-Thalassemia.
Journal of hematologyMale reproductive phenotype alterations in heterozygous β-globin gene knockout thalassemia (BKO) mice as a model for β-thalassemia patients.
Scientific reportsEvaluation of β-thalassemias in the premarital hemoglobinopathy screening program: A retrospective study.
Pakistan journal of medical sciencesAutomated Quantitative Assessment of Retinal Vascular Tortuosity in Patients with Sickle Cell Disease.
Ophthalmology scienceNavigating Hope and Complexity: Turkish Parents’ Experiences with Savior Siblings.
Turkish journal of haematology : official journal of Turkish Society of HaematologyDual α-globin-truncated erythropoietin receptor knockin restores hemoglobin production in α-thalassemia-derived erythroid cells.
Cell reportsAssociation of Serum Ferritin With Growth and Endocrine Function in Thalassemia Major Children in North India: An Observational Study.
CureusFirst clinical and pedigree study of rare HBB: c.316-90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.
Annals of hematologyBone and Joint Involvement in Beta Thalassemic Patients: A Cross-sectional Study.
Indian journal of orthopaedics[Clinical characteristics of cytokine release syndrome after haploidentical hematopoietic stem cell transplantation for thalassemia major].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsEarly Engraftment and Immune Kinetics Following Allogeneic Transplant Using a Novel Reduced-Toxicity Transplant Strategy in Children/Adolescents with High-Risk Transfusion-Dependent Thalassemia: Early Results of the ThalFAbS Trial.
Transplantation and cellular therapyMutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globin.
BloodStandardization of hemoglobin A2 and hemoglobin F: Achievements and perspectives.
Clinica chimica acta; international journal of clinical chemistryConvolutional neural networks for automatic MR classification of myocardial iron overload in thalassemia major patients.
European radiologyBurden of illness of non-hematopoietic stem cell transplant-related hepatic sinusoidal obstruction syndrome: A systematic review.
HeliyonTherapeutic potential of synthetic and natural iron chelators against ferroptosis.
Naunyn-Schmiedeberg's archives of pharmacologyExploring Novel Strategies to Alleviate Symptoms of β-Globinopathies: Examining the Potential Role of Embryonic ε-globin Induction.
Transfusion medicine reviewsThe Validation of Whole β-Globin Gene Sequencing for Detecting β-Thalassemia Mutations Found in Thailand Using Next-Generation Sequencing (NGS).
HemoglobinBetibeglogene autotemcel gene therapy in patients with transfusion-dependent, severe genotype β-thalassaemia (HGB-212): a non-randomised, multicentre, single-arm, open-label, single-dose, phase 3 trial.
Lancet (London, England)Association of age to nutritional status and muscle mass in children with transfusion-dependent β-thalassemia: a cross-sectional study.
Frontiers in nutritionWhole Blood Transcriptome Analysis in Congenital Anemia Patients.
International journal of molecular sciencesGenetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies.
International journal of molecular sciencesMemantine treatment in sickle cell disease: A 1-year study of its effects on cognitive functions and neural processing.
British journal of haematologyExisting Tubular Injury in β-Thalassemia Major Patients Receiving Iron Chelating Agents with Normal Creatinine Level in East Java, Indonesia.
HemoglobinClinical Burden and Healthcare Resource Utilization Associated With Managing Transfusion-dependent β-Thalassemia in England.
Clinical therapeuticsHealth-related quality of life and associated factors among children with Transfusion-dependent β-thalassaemia: a cross-sectional study in Guangxi Province.
Health and quality of life outcomesHealth-Related Quality of Life of Adolescents With Non-transfusion-Dependent Thalassemia in Basrah, Iraq.
CureusGene Therapy: A Revolutionary Step in Treating Thalassemia.
Hematology reportsImpact of Empagliflozin on the Outcomes of β-Thalassemia Major in Patients With Type 2 Diabetes Mellitus: The THALEMPA Observational Study.
CureusDifferential gut microbiota composition in β-Thalassemia patients and its correlation with iron overload.
Scientific reportsCharacterization of a novel 8.2 kb deletion causing beta-thalassemia.
Clinical biochemistryInsulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1) in hematological diseases.
Molecular medicine (Cambridge, Mass.)Relationship between hemoglobinopathies and male infertility: a scoping review.
International journal of hematologyCase report: A rare heterozygous Hb CS with heterozygous HbE in a family with thalassemia in China.
HeliyonTrans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.
Annals of hematologySystematic literature review of the indirect costs and humanistic burden of β-thalassemia.
Therapeutic advances in hematologyRhabdomyolysis in a Case of Mild Coronavirus Disease 2019 and β-Thalassemia Minor.
The Journal of the Association of Physicians of IndiaIn vivo silencing of intestinal DMT1 mitigates iron loading in β-thalassemia intermedia (Hbbth3/+) mice.
Blood advancesATG-Thymoglobulin Versus ATG-Fresenius for Conditioning in Thalassemia Patients Who Underwent Allogenic Stem Cell Transplantation from Matched-Sibling Donor: A Tertiary Cancer Care Center Short-Term Experience.
HemoglobinAcute Pancreatitis in Individuals with Sickle Cell Disease: A Systematic Review.
Journal of clinical medicineRegulatory Assessment of Casgevy for the Treatment of Transfusion-Dependent β-Thalassemia and Sickle Cell Disease with Recurrent Vaso-Occlusive Crises.
Current issues in molecular biologyCauses of Death and Mortality Trends in Individuals with Thalassemia in the United States, 1999-2020.
Journal of blood medicineAssessing NESTROFT as a preliminary screening tool for thalassemia in the Malayali tribes of Dharmapuri district, Tamil Nadu, India.
Journal of family medicine and primary careAssessing Psychological Disorders in Turkish Adolescents with Transfusion-Dependent Thalassemia.
Children (Basel, Switzerland)A comprehensive review on the current status of CRISPR based clinical trials for rare diseases.
International journal of biological macromoleculesManuka combinations with nigella sativa and hydroxyurea in treating iron overload of pediatric β-thalassemia major, randomized clinical trial.
HeliyonMultisystem inflammatory syndrome in children with COVID-19 in a multitransfused patient.
Asian journal of transfusion scienceOvarian Tissue Cryopreservation for Fertility Preservation in Patients with Hemoglobin Disorders: A Comprehensive Review.
Journal of clinical medicineAppropriateness of the EQ-5D-5L in capturing health-related quality of life in individuals with transfusion-dependent β-thalassemia: a mixed methods study.
Health and quality of life outcomesHealth-related Quality of Life of Omani Adult Patients with β-Thalassemia Major at Sultan Qaboos University Hospital.
Oman medical journalInternational Society for Cell & Gene Therapy Stem Cell Engineering Committee report on the current state of hematopoietic stem and progenitor cell-based genomic therapies and the challenges faced.
CytotherapyOptimizing the management of inherited blood disorders in a changing market: Findings from the AMCP Market Insights Program.
Journal of managed care & specialty pharmacyHydroxyurea to prevent brain injury in children with sickle cell disease (HU Prevent)-A randomized, placebo-controlled phase II feasibility/pilot study.
American journal of hematologyPrevalence of HIV, hepatitis B and hepatitis C infections among patients with thalassemia attending a tertiary care (rural) hospital.
Journal of family medicine and primary care[Overview of new approaches to β-thalassemia treatment].
Sheng li xue bao : [Acta physiologica Sinica]Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches.
BiomedicinesA New Formula Based on Simple Blood Indices to Differentiate Beta Thalassemia Trait from Iron Deficiency Anemia.
Iranian journal of public healthExploring the perceptions and experiences of female's with ß-thalassemia major in a Tertiary Care Private Hospital in Pakistan.
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguineMurine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.
BloodSystematic review and evidence gap assessment of the clinical, quality of life, and economic burden of alpha-thalassemia.
EJHaemHow Age, Sex and Transfusion Affects the Incidence of Endocrine and Bone Density Disorders in Major Thalassemic Patients.
Iranian journal of public healthTherapeutic Relevance of Inducing Autophagy in β-Thalassemia.
CellsA moonlighting job for α-globin in blood vessels.
BloodComparison of Yearly Cost Related to Complications Between Deferasirox and Deferiprone Monotherapy in Thalassemia.
Journal of pediatric hematology/oncologyLiver disease in patients with transfusion-dependent β-thalassemia: The emerging role of metabolism dysfunction-associated steatotic liver disease.
World journal of hepatologyIron burden and endocrine complications in transfusion-dependent thalassemia patients In Sarawak, Malaysia: a retrospective study.
The Medical journal of MalaysiaApplication of short tandem repeats (STRs) in the preimplantation genetic diagnosis (PGD) of α-thalassemia.
Taiwanese journal of obstetrics & gynecologyDual α-globin and truncated EPO receptor knockin restores hemoglobin production in α-thalassemia-derived red blood cells.
bioRxiv : the preprint server for biologyNutritional and Body Composition Changes in Paediatric β-Thalassemia Patients Undergoing Hematopoietic Stem Cell Transplantation: A Retrospective Study Using Bioelectrical Impedance Analysis.
Journal of multidisciplinary healthcarePulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology.
International journal of molecular sciencesPharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications.
International journal of molecular sciencesScreening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.
Frontiers in geneticsDetection of CRISPR/Cas9-Mediated Fetal Hemoglobin Reactivation in Erythroblasts Derived from Cord Blood-Hematopoietic Stem Cells.
Molecular biotechnologyBone marrow Tfr2 deletion improves the therapeutic efficacy of the activin-receptor ligand trap RAP-536 in β-thalassemic mice.
American journal of hematologyGood engraftment after reduced intensity targeted busulfan-based conditioning and matched related donor hematopoietic cell transplantation in hemoglobinopathies.
Pediatric blood & cancerSurvival and causes of death in patients with alpha and beta-thalassemia in Northern Thailand.
Annals of medicineProportion of Hypogonadism in Transfusion-Dependent Thalassemia Patients and Its Contributing Factors.
Acta medica IndonesianaPrevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
Scientific reportsHealth-Related Quality-of-Life Impacts Associated with Transfusion-Dependent β-Thalassemia in the USA and UK: A Qualitative Assessment.
The patientSpanish registry of hemoglobinopathies and rare anemias (REHem-AR): demographics, complications, and management of patients with β-thalassemia.
Annals of hematologyOutcomes of Haematopoietic Stem Cell Transplantation in Beta Thalassemia Major with Fully Matched Parents as Donor.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPCompound heterozygosity for Southeast Asian hereditary persistence of fetal hemoglobin and β0-thalassemia results in thalassemia intermedia: Pedigree analysis and genetic research in a family from South China. A case report.
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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.
- Adult 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.
- Nonclinical evaluation of renizgamglogene autogedtemcel for SCD and TDT.Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 40994008mais citado
- Elevated Fatty Acid Binding Protein 4 (FABP4) Associated With Liver Damage and Kidney Complications in Thalassemia Patients.
- Patient-Reported Outcomes With Luspatercept Through 5 Years of Treatment in Patients With Non-Transfusion-Dependent β-Thalassemia Treated in the BEYOND Trial.
- Nontrauma-Associated Cerebral Fat Embolism Syndrome in Sickle Cell-Related Hemoglobinopathies: A Case Series and Systematic Review.
- Evaluation of role of HPLC (Merits & Pitfalls), in the diagnosis of various hemoglobinopathies & thalassemic syndromes.
- Diagnostic difficulty of beta-thalassemia syndrome in a multi-transfused patient: contribution of myelogram and studying parents.
- [Sickle cell syndrome. Association between hemoglobin S and β thalassemia].
- Etiopathological mechanisms and clinical characteristics of hyperhemolysis syndrome in Spanish patients with thalassemia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:275749(Orphanet)
- MONDO:0017145(MONDO)
- Talassemia(PCDT · Ministério da Saúde)
- GARD:21023(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55786862(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
