Raras
Buscar doenças, sintomas, genes...
Beta-talassemia
ORPHA:848CID-10 · D56.1CID-11 · 3A50.2OMIM 613985PCDT · SUSDOENÇA RARA

A beta-talassemia (BT) é caracterizada pela deficiência (Beta+) ou ausência (Beta0) da síntese das cadeias beta globina da hemoglobina (Hb).

Mantido por Agente Raras·Colaborar como especialista →

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).

Pesquisas ativas
29 ensaios
347 total registrados no ClinicalTrials.gov
Publicações científicas
11.185 artigos
Último publicado: 2026 Apr 15
Medicamentos
7 registrados
AZACITIDINE, AMLODIPINE, RUXOLITINIB

Tem tratamento?

7 medicamentos registrados
Ver detalhes, fases e interações →
AZACITIDINEAMLODIPINERUXOLITINIBHYDROXYUREASOTATERCEPTSAPABLURSENBETIBEGLOGENE AUTOTEMCEL

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.5
France
Início
Childhood
+ infancy
🏥
SUS: Cobertura parcialScore: 50%
PCDT disponível3 medicamentos CEAFTriagem neonatal (Fase 1)CID-10: D56.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (1)
0202010317
Eletroforese de hemoglobinaslab_test
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
12 sintomas
📏
Crescimento
10 sintomas
🦴
Ossos e articulações
7 sintomas
🩸
Sangue
7 sintomas
❤️
Coração
5 sintomas
😀
Face
3 sintomas

+ 28 sintomas em outras categorias

Características mais comuns

90%prev.
Esplenomegalia
Muito frequente (99-80%)
90%prev.
Palidez
Muito frequente (99-80%)
90%prev.
Hemoglobina anormal
Muito frequente (99-80%)
90%prev.
Anormalidade do sistema esquelético
Muito frequente (99-80%)
90%prev.
Anemia
Muito frequente (99-80%)
90%prev.
Anemia microcítica
Muito frequente (99-80%)
82sintomas
Muito frequente (6)
Frequente (9)
Ocasional (6)
Sem dados (61)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 82 características clínicas mais associadas, ordenadas por frequência.

EsplenomegaliaSplenomegaly
Muito frequente (99-80%)90%
PalidezPallor
Muito frequente (99-80%)90%
Hemoglobina anormalAbnormal hemoglobin
Muito frequente (99-80%)90%
Anormalidade do sistema esqueléticoAbnormality of the skeletal system
Muito frequente (99-80%)90%
Anemia
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico11.185PubMed
Últimos 10 anos200publicações
Pico2026112 papers
Linha do tempo
2026Hoje · 2026🧪 1978Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: TSH neonatal
Fase 1 do PNTN
Incidência no Brasil: 1:2.500

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

HBBHemoglobin subunit betaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Chaperone Mediated Autophagy
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
267405.0 TPM
Baço
3152.1 TPM
Pulmão
1300.8 TPM
Adipose Visceral Omentum
607.7 TPM
Rim - Medula
605.7 TPM
OUTRAS DOENÇAS (21)
sickle cell diseasebeta-thalassemia HBB/LCRBdominant beta-thalassemiahemoglobin M disease
HGNC:4827UniProt:P68871

Medicamentos e terapias

AZACITIDINEPhase 2

Mecanismo: DNA (cytosine-5)-methyltransferase 3A inhibitor

AMLODIPINEPhase 2

Mecanismo: Voltage-gated L-type calcium channel blocker

RUXOLITINIBPhase 2

Mecanismo: Tyrosine-protein kinase JAK1 inhibitor

HYDROXYUREAPhase 2

Mecanismo: Ribonucleoside-diphosphate reductase RR1 inhibitor

SOTATERCEPTPhase 2

Mecanismo: Inhibin beta A chain inhibitor

SAPABLURSENPhase 2

Mecanismo: Transmembrane protease serine 6 mRNA antisense inhibitor

BETIBEGLOGENE AUTOTEMCELPhase 1

Mecanismo: Hemoglobin beta chain exogenous gene

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

615 variantes patogênicas registradas no ClinVar.

🧬 HBB: NM_000518.5(HBB):c.127T>A (p.Phe43Ile) ()
🧬 HBB: NM_000518.5(HBB):c.-48A>T ()
🧬 HBB: NM_000518.5(HBB):c.325A>C (p.Asn109His) ()
🧬 HBB: NM_000518.5(HBB):c.331del (p.Leu111fs) ()
🧬 HBB: NM_000518.5(HBB):c.84_90del (p.Leu29fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 502 variantes classificadas pelo ClinVar.

176
276
50
Patogênica (35.1%)
VUS (55.0%)
Benigna (10.0%)
VARIANTES MAIS SIGNIFICATIVAS
HBB: NM_000518.5(HBB):c.127T>A (p.Phe43Ile) [Likely pathogenic]
LOC110006319: NM_000518.5(HBB):c.346del (p.Ala116fs) [Pathogenic]
HBB: NM_000518.5(HBB):c.268_281del (p.Leu89_Ser90insTer) [Pathogenic]
HBB: NM_000518.5(HBB):c.219_220delinsAT (p.Ser73_Asp74delinsArgTyr) [Pathogenic]
HBB: NM_000518.5(HBB):c.43del (p.Leu15fs) [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 33
2Fase 213
1Fase 14
·Pré-clínico7
Medicamentos catalogadosEnsaios clínicos· 7 medicamentos · 20 ensaios
Carregando informações de tratamento...

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

🟢 Recrutando agora

19 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT03937817 · Collection of Human Biospecimens for Basic and Clinical Rese…Recrutando
NCT06364774 · ALS20-101 Lentiviral Gene Therapy for Beta ThalassemiaRecrutando
PHASE1, PHASE2
NCT05736419 · A Study of Immune Suppression Treatment for People With Sick…Recrutando
PHASE2
NCT05477563 · Evaluation of Efficacy and Safety of a Single Dose of CTX001…Recrutando
PHASE3
NCT06421636 · A Study to Test the Safety, Tolerability, and Efficacy of an…Recrutando
PHASE2
NCT05508932 · Atrial Fibrillation in Beta-ThalassemiaRecrutando
NCT07215975 · A Real-World Study to Evaluate Luspatercept in Adults With T…Recrutando
NCT05904093 · Study to Evaluate the Safety and Tolerability of Escalating …Recrutando
PHASE1
NCT06647979 · Hematopoietic Stem Cell BCL11A Enhancer Gene Editing for Sev…Recrutando
PHASE1
NCT04143724 · Study of Safety & PK of Luspatercept (ACE-536) in Pediatric …Recrutando
PHASE2
NCT07292259 · Combination of Thalidomide and Hydroxyuria in Transfusion De…Recrutando
PHASE2
NCT06308159 · An Open-label Study of a Gene Therapy Product (Vebeglogene A…Recrutando
PHASE1, PHASE2
NCT04064060 · A Study to Evaluate Long-term Safety in Participants Who Hav…Recrutando
PHASE3
NCT04208529 · A Long-term Follow-up Study in Participants Who Received CTX…Por convite
PHASE3
NCT06717932 · A Follow-up Study to Evaluate the Long-term Safety and Effic…Por convite
NCT06685536 · A Long-term Follow-up Study in Participants Who Received CS-…Por convite
NCT06328764 · CS-101 in Patients With β-thalassemiaPor convite
EARLY_PHASE1
NCT05577312 · Safety and Efficacy Evaluation of BRL-101 in Subjects With T…Por convite
PHASE1, PHASE2
NCT07055503 · Use of the Hemanext One® Hypoxic Red Blood Cell Storage Syst…Por convite

Outros ensaios clínicos

347 ensaios clínicos encontrados, 29 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Divulgue para pacientes e familiares que acompanham esta doença.
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Publicações mais relevantes

Timeline de publicações
4.830 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 4.830

#1

Clinical integration of red cell genotyping in children with β-thalassemia major: a prospective observational study.

Blood global hematology2026 Mar

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.

🇧🇷 traduzido
#2

CRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.

Human gene therapy2026 Mar

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.

🇧🇷 traduzido
#3

Circ_0001428 regulates erythropoiesis and γ-globin expression via activating the ATF4-BCL11A axis in β-thalassemia.

Cellular and molecular life sciences : CMLS2026 Mar 06

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.

🇧🇷 traduzido
#4

Genetic variations and clinical implications of B-thalassemia in Iraqi population.

PloS one2026

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.

🇧🇷 traduzido
#5

Red Blood Cell Metabolomic Signatures in β-Thalassemia Heterozygotes With Elevated HbA1c: Implications for Biomarkers and Personalized Medicine.

Journal of diabetes science and technology2026 Mar 03

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.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC4.257 artigos no totalmostrando 199

2026

Elevated Fatty Acid Binding Protein 4 (FABP4) Associated With Liver Damage and Kidney Complications in Thalassemia Patients.

BioMed research international
2026

Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India.

Indian journal of pediatrics
2026

A dual-modal machine learning framework integrating red blood indices and smartphone-captured microscopic images for β-thalassemia screening.

BMC medical informatics and decision making
2026

HbS-β thalassemia mimicking HbSS on DdeI RFLP: Report of a pitfall circumventable by Sanger sequencing and parental testing.

Blood cells, molecules &amp; diseases
2026

Compound Heterozygous Hemoglobin E-Beta (HbE-β)-Thalassemia Presenting With Chipmunk or Rodent Facies, and a Severe Thalassemia Major Phenotype.

Cureus
2026

Multimodal 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 medicine
2026

Patient-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 haematology
2026

Clinical integration of red cell genotyping in children with β-thalassemia major: a prospective observational study.

Blood global hematology
2026

Vamifeport, a clinical stage oral ferroportin inhibitor, alleviates murine lupus nephritis: A pilot study.

Clinical immunology (Orlando, Fla.)
2026

Genetics and Genomics in Sickle Cell Disease in Africa.

American journal of hematology
2026

From Iron Deficiency to Overload: A Missing Link in the Mechanisms of Cardiac Autonomic Nervous System Dysfunction.

Journal of clinical medicine
2026

Regulation of BCL11A DNA binding and expression in human erythrocyte precursor HUDEP-2 cells.

bioRxiv : the preprint server for biology
2026

Clinical and Hematological Characteristics of Vietnamese Heterozygous Hb Tak/β-Thalassemia Patients: A Four-Case Series.

Mediterranean journal of hematology and infectious diseases
2026

Association 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 diseases
2026

CRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.

Human gene therapy
2026

Comparative Analysis of Erythroferrone and Hepcidin as Emerging Biomarkers of Iron Homeostasis in Patients with β-Thalassemia Major: A Case-Control Study from Pakistan.

Hemoglobin
2026

Diagnostic accuracy of hematological indices and logistic regression for β-thalassemia carrier screening in children.

Medicine
2026

Circ_0001428 regulates erythropoiesis and γ-globin expression via activating the ATF4-BCL11A axis in β-thalassemia.

Cellular and molecular life sciences : CMLS
2026

CRISPR in Thalassemia: Global Research Trend Analysis.

Hemoglobin
2025

Clinico-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 Association
2026

Genetic variations and clinical implications of B-thalassemia in Iraqi population.

PloS one
2026

Red Blood Cell Metabolomic Signatures in β-Thalassemia Heterozygotes With Elevated HbA1c: Implications for Biomarkers and Personalized Medicine.

Journal of diabetes science and technology
2026

Darbepoetin therapy for anaemia and orthostatic presyncope and palpitations in a woman with beta-thalassemia minor and possible postural orthostatic tachycardia syndrome.

Obstetric medicine
2026

Current Status of Clinical Gene Therapy for Hemophilia and Globin Disorders.

Journal of blood medicine
2026

First Case of Hb City of Hope (HBB: c.208G > A) in Andalusia. A Molecular Update of β-Thalassemia in Southwestern Spain (Huelva Province).

Hemoglobin
2026

Management of CMV Pneumonia, DAH, and BOS Following HSCT in a Child with β-Thalassemia: A Case Report.

Journal of inflammation research
2026

A novel HBD gene mutation associated with normal-range hb A2 in β-thalassemia carriers.

Annals of hematology
2026

Utility of First-Line Diagnostic Tests and Molecular Methods for Accurate Characterization of Sickle Cell Disorders.

International journal of laboratory hematology
2026

Behind the splenomegaly: a parasitic twist in siblings with beta thalassemia trait.

BMC pediatrics
2026

A Multifactorial Presentation of Infection and Thrombosis: Temporal Clustering of Pneumonia, Hepatic Abscess, Bilateral Deep Vein Thromboses (DVTs), and Appendicitis in a Child.

Cureus
2026

Reproductive Endocrine Stability Despite Persistent Hypogonadism in Well-Chelated Adult Women with Transfusion-Dependent β-Thalassemia.

Journal of clinical medicine
2026

Curative Approach to the Treatment of Beta-Thalassemia and Sickle Cell Disease with Hematopoietic Stem Cell Transplantation.

Journal of clinical medicine
2026

Systematic 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 medicine
2026

Therapeutic Potential of Deferiprone-Resveratrol Hybrid (DFP-RVT) Against Hepatic Iron Overload in β-Thalassemia Mice: A Proteomic Analysis.

Biomolecules
2026

Emerging Considerations in Transfusion Medicine: Hematopoietic Stem and Progenitor Cell Collection for Gene Therapy for Sickle Cell Disease and Transfusion-Dependent Thalassemia.

Clinics in laboratory medicine
2026

An 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 analysis
2026

Difficult Cases in the Diagnosis of Thalassemia Syndromes.

Hemoglobin
2026

Vitamin B12 Deficiency Does Not Induce Homocysteine Increase in Transfusion-Dependent β-Thalassemia Major Patients Receiving Folic Acid Supplementation.

Hemoglobin
2026

Pulmonary hypertension in beta thalassemia: a prospective cohort study on treatment outcomes and cardiopulmonary function.

Acta cardiologica
2026

Impact of Beta-Thalassemia Trait on Clinical Outcomes and Treatment Response in Chronic Myeloid Leukemia.

Cureus
2026

Molecular Genetics and Recent Management Strategies of HB E-β Thalassemia.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Synergistic Potential of Thalidomide and Hydroxyurea in Sickle Cell Disease Management: A Promising Combination Therapy.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

How I manage luspatercept in transfusion-dependent beta-thalassemia.

HemaSphere
2026

Prediction of β-thalassemia carrier using federated learning and explainable AI.

Frontiers in medicine
2026

When HbA1c looks "too high": two practical clarifications for endocrine screening in chelated β-thalassemia major.

Therapeutic advances in endocrinology and metabolism
2026

Safety 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 Therapy
2026

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.

Journal of translational medicine
2026

Machine learning and AI-Assisted red blood cell morphology analysis for effective thalassemia screening.

Annals of hematology
2026

Endothelial dysfunction and cardiac damage indicators in patients with β-thalassemia major under iron-chelation therapy.

Therapeutic advances in hematology
2026

miRNA-Mediated Regulation of γ-Globin to β-Globin Switching: Therapeutic Potential in β-Hemoglobinopathies.

International journal of molecular sciences
2025

Comprehensive expression of long non-coding RNAs and association with iron and erythropoiesis regulatory proteins in transfusion-dependent β-thalassemia.

Archives of medical science : AMS
2026

Assessing Cardiac Mechanical Dysfunction in Transfusion-Dependent β-Thalassemia With History of Atrial Fibrillation: The Role of Speckle Tracking Echocardiography.

Echocardiography (Mount Kisco, N.Y.)
2026

Beta-Thalassemia Major Complicated by Streptococcal Toxic Shock Syndrome: A Rare Case of Survival and Successful Management.

Case reports in hematology
2026

Mesangial sclerosing glomerulopathy following luspatercept treatment - a case report.

BMC nephrology
2026

Overcoming transfusion-refractory anemia: partial splenic embolization to facilitate orthopedic surgery in β-thalassemia.

Annals of hematology
2026

Therapeutic potential of polyphenols in managing thalassemia: A comprehensive review.

Avicenna journal of phytomedicine
2025

[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 genetics
2026

Impact of iron chelation therapy on thyroid function in beta-thalassemia major patients from Pakistan.

Scientific reports
2026

Subtype Distribution and Mutation Spectrum of Thalassemia in Children Under 10 Years in Northern Vietnam.

Mediterranean journal of hematology and infectious diseases
2026

End-of-Life Care in Sickle Cell Disease and Transfusion-Dependent β-Thalassemia: Clinical, Psychosocial, and Ethical Considerations.

Mediterranean journal of hematology and infectious diseases
2026

Voluntary thalassemia screening: behaviours and constructs among youths from a thalassemia hot spot in Sri Lanka.

BMC research notes
2026

Red blood cell alloimmunization in transfusion-dependent β-thalassemia major patients in Eastern Iran.

Annals of hematology
2026

The impact of the expression signatures of LncRNAs HBBP1 and XIST on the diagnostic significance of patients with β-Thalassemia.

Annals of hematology
2026

Many faces of non‑deletional α‑thalassaemia variants in neonate and early childhood.

Annals of hematology
2025

A 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 science
2026

Alterations in Serum MAO Activity and Tau Levels in β-Thalassemia.

Hemoglobin
2026

Economic burden of non-transfusion-dependent thalassemia in the United States.

Journal of medical economics
2026

Functional correction and genome integrity with duplex base editing of β-thalassemic hematopoietic stem cells.

Genome biology
2026

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.

BMJ open
2025

UGT1A6 variants and deferiprone-induced ADRs: a complication-specific analysis in Iranian thalassemia patients.

Pharmacogenomics
2026

Detection of β-Thalassemia Mutations in Term Neonates with HbA ≤15% Using Capillary Electrophoresis and Molecular Analysis.

Fetal and pediatric pathology
2026

Altered cerebral morphometry and individual-based morphological brain network in children with beta-thalassaemia major.

Neuroscience
2025

Beyond the Exome: The Role of Noncoding and Regulatory Variants in Monogenic Diseases.

Current issues in molecular biology
2025

Interpretable machine learning models for beta thalassemia prediction: an explainable AI approach for smart healthcare 5.0.

Frontiers in medicine
2026

Prevalence of Severe Thalassemia and Performance of Prenatal Screening Tests Among Pregnant Women at Siriraj Thalassemia Center in Thailand.

Clinical and translational science
2026

Effect of Epigallocatechin-3-Gallate on Depression-Related Cytokines in Thalassemia Patients: Molecular and Cellular Evaluation.

Journal of clinical laboratory analysis
2025

Association 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.

Pharmacogenomics
2026

Taurine 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 reports
2026

Two Novel SUPT5H Variants Causing β-Thalassemia Trait Phenotypes.

Hemoglobin
2025

Functional Abnormalities of the Endocrine System in Beta-Thalassemia Major Patients: Insights From a Hospital-Based Observational Study.

Cureus
2026

Adaptation of lentiviral vectors for viral gene therapy and their impact on host cell biology.

Journal of translational medicine
2026

Vaso-Occlusive Thrombotic Ischemic Colitis Presenting With Large-Volume Hematochezia in Sickle Cell Beta+-Thalassemia.

ACG case reports journal
2026

Quantification of Myocardial Iron and Fat - An Experimental Study with Photon-Counting Detector CT.

The British journal of radiology
2026

Erythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis.

HemaSphere
2026

Atrial fibrillation prevalence and its management in aging transfusion-dependent thalassemia patients: the FATHAL study.

Blood advances
2026

Case series: a rare dominant form of β-thalassemia successfully treated by luspatercept.

Annals of hematology
2026

First 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 biophysics
2026

Enhanced induction of fetal hemoglobin by the combination of decitabine with RN-1 in β-thalassemia/HbE erythroid progenitor cells.

Molecular medicine (Cambridge, Mass.)
2026

HbE/β-thalassemia presenting with Moyamoya angiopathy-associated ischemic stroke and noncompressive intrathoracic extramedullary hematopoiesis.

Neurology perspectives
2026

T1 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
2026

[Epidemiological, clinical, angiographic and therapeutic features of sickle cell retinopathy in Burkina Faso].

Journal francais d'ophtalmologie
2026

Adult-Onset β-Thalassemia Major as Acquired Imprinting Disorder.

American journal of hematology
2026

Nanopore 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 Physicians
2026

Establishing hemoglobin A, F, A2 reference intervals in neonatal cord blood and clinical decision values for β-thalassemia genetic testing.

Current research in translational medicine
2026

Long-term efficacy and safety results of betibeglogene autotemcel gene therapy for transfusion-dependent β-thalassemia.

Blood
2026

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 &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Role of Serum Apelin and Carotid Artery Intima Thickness in Predicting Early Atherosclerotic Changes in Children With Beta-Thalassemia Major.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2025

Genetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.

The Indian journal of medical research
2025

Ineffective Erythropoiesis Markers in β-Thalassemia: A Systematic Review.

Journal of clinical medicine
2026

A Retrospective Analysis of Blood Component Utilization and Transfusion-Related Factors in a Diverse Patient Population.

Healthcare (Basel, Switzerland)
2025

A New Method for Screening Thalassemia Patients Using Mid-Infrared Spectroscopy.

Diagnostics (Basel, Switzerland)
2025

The second reported case of a hemolytic transfusion reaction caused by anti-Sc2: a clinical diagnosis.

Immunohematology
2026

Beta-thalassemia and a missing malaria landscape.

Trends in parasitology
2025

[The Role of MiR-709 in Erythroid Development and Its Correlation with Multiple Hematological Diseases].

Zhongguo shi yan xue ye xue za zhi
2025

[Analysis of Gene Types and Clinical Characteristics of Thalassemia in Children in Nanchong Area].

Zhongguo shi yan xue ye xue za zhi
2025

[Screening Results of Thalassemia and Analysis of Rare Genotypes].

Zhongguo shi yan xue ye xue za zhi
2026

Closing the gap: do we need a framework for embedding equity in health technology assessment?

International journal of technology assessment in health care
2025

The Utility of HbA1c and Fructosamine in Evaluating the Glucose Tolerance in Adult Patients with Transfusion-Dependent Beta-Thalassemia.

Indian journal of endocrinology and metabolism
2026

[Beta thalassaemia: a surprising radiological image].

Nederlands tijdschrift voor tandheelkunde
2026

Clinical Applications of Ligand Traps Targeting Activin Type II Receptors.

Anti-inflammatory &amp; anti-allergy agents in medicinal chemistry
2026

Rising Star Engineering the Genome for Curative Futures.

Journal of molecular biology
2026

Management of transfusion-dependent β-thalassaemia in the era of novel therapies: a prioritisation-based matrix for settings with limited resources.

The Lancet. Haematology
2026

Ovarian function compromise in pediatric beta-thalassemia major: a consequence of iron overload-induced mitochondrial and fibrotic damage.

Human reproduction (Oxford, England)
2026

Hb Yongning [β1 (NA1) Val→Leu; HBB:C.4G > C]: A Novel Hemoglobin Variant Causing Significant Interference in Common Glycated Hemoglobin Assays.

Hemoglobin
2025

Therapeutic applications of CRISPR-Cas9 gene editing.

Frontiers in genome editing
2025

Epidemiological Profile of Haemoglobinopathies in Different Districts of West Bengal: A Retrospective Study.

Nigerian medical journal : journal of the Nigeria Medical Association
2026

Association of IL28B Polymorphisms With Hepatitis C Susceptibility in Southern Iran's β-Thalassemia Population: A Cross-Sectional Study.

Health science reports
2025

Host Immunogenetics and Chronic HCV Infection Shape Atopic Risk in Pediatric Beta-Thalassemia: A Genotype-Phenotype Study.

Genes
2025

Gene Therapy of Beta Hemoglobinopathies.

Biomedicines
2025

A Rare Combination of Hereditary Folate Malabsorption (SLC46A1 Gene Variant) and Beta-Thalassemia Trait.

EJIFCC
2026

Targeting LncRNAs with CRISPR/Cas9 for Kidney Therapeutics: A Review.

International journal of biological macromolecules
2025

Haematological indices as screening tool in distinguishing beta thalassemia trait and iron deficiency anaemia: Insights from a tertiary hospital study.

The Medical journal of Malaysia
2026

Identification of RBM3 as a novel regulator of human fetal hemoglobin expression.

International immunopharmacology
2025

Nutritional deficiencies among adults with beta thalassemia major in Vietnam.

Public health nutrition
2025

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Human genomics
2025

Endocrine complications in patients with β-thalassemia major receiving iron-chelation therapy.

Therapeutic advances in endocrinology and metabolism
2025

Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.

International journal of general medicine
2025

CRISPR editing of HPFH3 genotype induces γ-globin expression and reverses sickle cell disease and β-thalassemia phenotypes.

Stem cell research &amp; therapy
2025

Novel LRF/ZBTB7A variants and known HbF-modulating SNPs in transfusion-dependent β-thalassemia.

BMC medical genomics
2025

Lowering 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 pharmacology
2026

p27Kip1 regulates γ-globin production.

Blood
2025

Fragmented QRS duration as a marker of cardiac and hepatic iron overload: across-sectional study.

Scientific reports
2025

Alterations in iron status predict cardiac response to blood transfusion in β-thalassemia major.

Scientific reports
2025

Effects 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 Practitioners
2025

Genosomes: An Introspection into Transfection, Future Perspectives and Applications.

Advanced pharmaceutical bulletin
2025

Patra index and Mentzer index - A retrospective comparative study to differentiate Beta-Thalassemia Trait from iron deficiency anemia.

Journal of family medicine and primary care
2025

Frequency of Zinc Deficiency Among Thalassemia Major Patients: A Comparative Cross-Sectional Study.

Cureus
2025

Iron-associated central macular ganglion cell complex thinning and choroidal vascularity index elevation in transfusion-dependent β-thalassemia: potential OCT/OCTA biomarkers.

BMC ophthalmology
2025

Performance of the automated DNA extraction with MagNA Pure 24 for further genetic testing for hemoglobinopathies with Globin StripAssays.

Wiener klinische Wochenschrift
2025

Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi.

BMC medicine
2025

Identification 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.

Hemoglobin
2025

A Cross-Sectional Study on Pain and Quality of Life of Adult Patients with Transfusion-Dependent Thalassemia in a Tertiary Hospital In Malaysia.

Hemoglobin
2025

Liver Tissue Mapping in Transfusion-Dependent β-Thalassemia: Reproducibility and Clinical Insights from Multiparametric MRI.

Diagnostics (Basel, Switzerland)
2025

Determinants of intertransfusion interval in children with transfusion-dependent thalassemia: a retrospective single-center cohort study in China.

Translational pediatrics
2025

Confounding Factors in the Diagnosis of Hereditary Spherocytosis and Gallstone Formation in Related Hemolytic Disorders From a Tertiary Care Center in North India.

Cureus
2025

[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 francaises
2025

Thalassemia and hypercoagulability.

Hematology. American Society of Hematology. Education Program
2026

Discovery of a Novel DNMT1 Inhibitor with Improved Efficacy in Treating β-Thalassemia.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Downregulation of ZBTB7A/LRF increases fetal hemoglobin expression in β0-thalassemia/hemoglobin E erythroid cells.

Scientific reports
2025

Trabecular bone score in the assessment of bone health in thalassemia major.

Frontiers in endocrinology
2025

Rare variant hemoglobin Köln in Southern India-an underdiagnosed entity?

Journal of hematopathology
2025

MAZ regulates fetal hemoglobin repression by activating MYB transcription.

Scientific reports
2026

The 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 hematology
2025

A pilot study on the prevalence and patterns of haemoglobinopathies in Datia District, Madhya Pradesh, India.

Scientific reports
2025

Assessment of Adherence to Iron Chelation Therapy Among Thalassemia Patients in Palestine.

Anemia
2025

Epidemiology and economic burden of selected rare genetic diseases in Germany - a claims database study.

Orphanet journal of rare diseases
2025

Base editing of β0-thalassemia mutations as a therapeutic strategy for severe β-hemoglobinopathies.

Science translational medicine
2025

Metabolomic Investigation of Myelodysplastic Syndromes, Multiple Myeloma, and Homozygous β-Thalassemia.

Cells
2025

Deep Vein Thrombosis in a Patient With Thalassemia Minor: A Case Report.

Clinical case reports
2025

Safety 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 diseases
2025

Blood that was far from red: hypertriglyceridaema thalassaemia syndrome: case report.

Paediatrics and international child health
2025

Predicting the Double Heterozygotes of HbE and α-Thalassemia-1 (Southeast Asian Type) Using RapidMiner-Generated Hematologic Algorithm.

Hemoglobin
2026

IFN-γ increases δ-globin gene expression through activation of the JAK/STAT pathway in erythroid cells.

Blood
2025

Cord Blood-Based Neonatal Screening for Hemoglobinopathies in Northern Tunisia.

International journal of neonatal screening
2026

Genotypic and hematological profiling of thalassemia in reproductive-age and pediatric populations.

Biomedical reports
2025

Impact of transferrin levels on iron accumulation in transfusion-dependent beta-thalassemia: A genotype-specific analysis.

Journal of medical biochemistry
2026

Reproductive 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 : JOGC
2025

Molecular and structural characterization of a novel β-hemoglobinopathy caused by in Cis β-globin mutations in a Thai individual.

Scientific reports
2025

Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.

Nature communications
2025

The development of an advanced lentiviral gene therapy for beta-thalassemia.

Biochemical and biophysical research communications
2026

Biventricular and bia-trial strain by cardiac magnetic resonance in thalassaemia intermedia: patterns and correlates.

Clinical radiology
2025

Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing.

Frontiers in genetics
2026

Cardiovascular magnetic resonance derived pulmonary capillary wedge pressure in beta-thalassemia major: Clinical correlates and association with cardiac complications.

International journal of cardiology
2026

Quantitative MRI iron load assessment in β-thalassemia patients beyond the liver and heart: A systematic review.

European journal of radiology
2025

The 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 genetics
2025

Administration of green tea polyphenols mitigates iron-overload-induced bone loss in a β-thalassemia mouse model.

NPJ science of food
2025

Gene therapy for hemoglobinopathies: Clinical trial results and biology of hematopoietic stem cell and the bone marrow niche.

Cell reports. Medicine
2025

Predictive value of hepcidin and HIF1α protein levels for iron deposition in β-thalassemia.

European journal of pediatrics
2026

Single-Position Peptide Clustering for Peptidomics Reveals Novel Disease Biomarkers and Dysregulated Proteolytic Characteristics.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

A direct multiplex isothermal amplification-reverse dot blot hybridization system for β-thalassemia diagnosis.

Annals of hematology
2025

Cellular and molecular targets in β-Thalassemia: advances in iron Regulation, Erythropoiesis, and Gene-Based therapies.

Functional &amp; integrative genomics
2025

Placenta Percreta in the Absence of a Previous Uterine Scar.

Cureus
2025

Assessment of Hepcidin-25 and Iron Status Profiles in Pregnant Women With Thalassemia Minor.

Journal of pregnancy
2025

Molecular identification and phenotypic study of a novel HBB: c.-23A>G mutation in the 5' untranslated region.

Frontiers in medicine
2025

CRISPR/Cas12a-SERS biosensor based on sea urchin-like AuNPs for the detection of β-thalassemia mutant gene CD31.

Mikrochimica acta
2025

Genetic Analysis and Clinical Relevance of HBA1:c.305T > C (Leu > Pro): A Novel Variant Linked to α-Thalassemia.

Hemoglobin
2025

Accurate diagnosis of hemoglobinopathies with machine learning based on high-throughput proteomics.

HemaSphere
2025

Fasting 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 diseases
2025

Post-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
2025

[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
2025

[Analysis of Thalassemia Gene Variants in the Wuhan Region].

Zhongguo shi yan xue ye xue za zhi
2025

The cognitive profiles of people with β - Thalassemia across the life span: a systematic review.

Psychology, health &amp; medicine
2025

Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.

Frontiers in immunology
2026

Screening, genetic analysis, and clinical transfusion implications of thalassaemia and glucose-6-phosphate dehydrogenase deficiency in blood donors.

Transfusion medicine (Oxford, England)
2025

Assessment of β-Thalassemia Trait Occurrence in an Outpatient Sample from Southern Chile: A Retrospective Study.

Diagnostics (Basel, Switzerland)
2025

Gene Therapies for Hemoglobinopathies: Efficacy, Cell Collection & Transfusion Support.

Transfusion medicine reviews
2025

Genetic Analysis of a Patient with β-Thalassemia Major and Homozygous Hb Constant Spring in a Chinese Family.

Clinical laboratory
2025

B-Type Natriuretic Peptides Levels in Patients With Beta-Thalassemia Major and Correlations With Biomarkers: A Systematic Review and Meta-Analysis.

Health science reports
2025

Beyond anemia: unraveling neutrophil defects and infection susceptibility in β-Thalassemia.

Blood research
Ver todos os 4.257 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Associação brasileira dedicada a Talassemias.

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Beta-talassemia

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Doenças relacionadas

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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.

  1. Clinical integration of red cell genotyping in children with &#x3b2;-thalassemia major: a prospective observational study.
    Blood global hematology· 2026· PMID 41852790mais citado
  2. CRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.
    Human gene therapy· 2026· PMID 41810550mais citado
  3. Circ_0001428 regulates erythropoiesis and &#x3b3;-globin expression via activating the ATF4-BCL11A axis in &#x3b2;-thalassemia.
    Cellular and molecular life sciences : CMLS· 2026· PMID 41790270mais citado
  4. Genetic variations and clinical implications of B-thalassemia in Iraqi population.
    PloS one· 2026· PMID 41779715mais citado
  5. Red Blood Cell Metabolomic Signatures in &#x3b2;-Thalassemia Heterozygotes With Elevated HbA1c: Implications for Biomarkers and Personalized Medicine.
    Journal of diabetes science and technology· 2026· PMID 41775457mais citado
  6. G6PD variants but not Filipino beta-thalassemia are associated with reduced risk of Plasmodium knowlesi infection in Sabah, Malaysia.
    Malar J· 2026· PMID 41987254recente
  7. miR-192-5p as a Potential Diagnostic Biomarker for β-Thalassemia and Its Regulatory Mechanism via Targeting BCL11A.
    Hemoglobin· 2026· PMID 41986299recente
  8. Luspatercept: From Bench to Bedside and Beyond in the Management of Ineffective Erythropoiesis.
    J Hematol· 2026· PMID 41983155recente
  9. Non-invasive prenatal diagnosis of beta-thalassemia disease using digital PCR.
    Front Med (Lausanne)· 2026· PMID 41982550recente
  10. Reduced number of endothelial progenitor cells in adult patients with beta thalassemia major.
    Ann Hematol· 2026· PMID 41979693recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:848(Orphanet)
  2. MONDO:0019402(MONDO)
  3. Talassemia(PCDT · Ministério da Saúde)
  4. GARD:871(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Beta-talassemia
Compêndio · Raras BR

Beta-talassemia

ORPHA:848 · MONDO:0019402
🇧🇷 Brasil SUS
Triagem
TSH neonatal
PNTN
Fase 1
Incidência BR
1:2.500
CEAF
1AExagamglogene autotemcelBetibeglogene autotemcelMitapivate
Geral
Prevalência
1-9 / 1 000 000
Herança
Autosomal dominant, Autosomal recessive
CID-10
D56.1 · Talassemia beta
CID-11
OMIM
OMIM:613985
Ensaios
29 ativos
Medicamentos
7 registrados
Início
Childhood, Infancy
Prevalência
0.5 (France)
MedGen
UMLS
C0002875
Repurposing
2 candidatos
deferasiroxchelating agent
deferiprone
EuropePMC
Wikidata
Wikipedia
Papers 10a
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