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Talassemia beta major
ORPHA:231214CID-10 · D56.1CID-11 · 3A50.2DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
DermatológicoInício neonatalHerança AR
Também conhecida comoTDTBT

A beta-talassemia (BT) major é uma forma grave de BT de início precoce, caracterizada por anemia grave que requer transfusões regulares de glóbulos vermelhos.

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Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A talassemia beta major é uma doença genética grave que causa anemia profunda identificável desde os primeiros meses de vida do bebê. Por causa dessa alteração na hemoglobina, a pessoa precisa receber transfusões regulares de sangue para repor as células vermelhas. Com o tempo, o excesso de ferro acumulado pelas transfusões pode atingir órgãos vitais como o coração e o fígado. No Brasil, o medicamento quelante Deferasirox é dispensado pelo SUS por meio do programa CEAF para auxiliar na eliminação desse ferro.

📋
Informacoes curadas por IA — podem conter imprecisoes

A beta-talassemia (BT) major é uma forma grave de BT de início precoce, caracterizada por anemia grave que requer transfusões regulares de glóbulos vermelhos.

Pesquisas ativas
7 ensaios
43 total registrados no ClinicalTrials.gov
Publicações científicas
2.549 artigos
Último publicado: 2026
Medicamentos
10 com registro
DEFERASIROX, AZACITIDINA, XPREZA

Tem tratamento?

✓ 10 medicamentos específicos desta doença (registro ANVISA, FDA ou SUS/CEAF)
Ver detalhes, fases e interações →
DEFERASIROXAZACITIDINAXPREZAAZLAVIDAZAWINDUZAAZILYSAZMID
Mais 5 moléculas em estudo para esta doença.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Cobertura parcialScore: 45%
1 medicamento CEAF1 procedimentos SIGTAPCID-10: D56.1
🇧🇷Dados SUS / DATASUS
EXAMES E PROCEDIMENTOS RELACIONADOS (1)
•
Eletroforese de hemoglobinas
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

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

+ 17 sintomas em outras categorias

Características mais comuns

90%prev.
Volume corpuscular médio diminuído
Muito frequente (99-80%)
90%prev.
Persistência de hemoglobina F
Muito frequente (99-80%)
90%prev.
Anemia por produção inadequada
Muito frequente (99-80%)
90%prev.
Anisopoiquilocitose
Muito frequente (99-80%)
90%prev.
Anemia microcítica hipocrômica
Muito frequente (99-80%)
90%prev.
Hemoglobina A reduzida
Muito frequente (99-80%)
50sintomas
Muito frequente (8)
Frequente (16)
Ocasional (23)
Muito raro (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 50 características clínicas mais associadas, ordenadas por frequência.

Volume corpuscular médio diminuídoDecreased mean corpuscular volume
Muito frequente (99-80%)90%
Persistência de hemoglobina FPersistence of hemoglobin F
Muito frequente (99-80%)90%
Anemia por produção inadequadaAnemia of inadequate production
Muito frequente (99-80%)90%
AnisopoiquilocitoseAnisopoikilocytosis
Muito frequente (99-80%)90%
Anemia microcítica hipocrômicaHypochromic microcytic 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 histórico2.549PubMed
Últimos 10 anos200publicações
Pico2025110 papers
Linha do tempo
2026Hoje · 2026🧪 2005Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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 recessive.

HBBHemoglobin subunit betaDisease-causing germline mutation(s) inTolerante
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

SOTATERCEPTPhase 2

Mecanismo: Inhibin beta A chain 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 7 variantes classificadas pelo ClinVar.

7
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
HBB: NC_000011.10:g.5225256_5225875delinsTCTACTT [Pathogenic]
HBB: NM_000518.5(HBB):c.93-1G>C [Pathogenic]
HBB: NM_000518.5(HBB):c.316-2A>C [Pathogenic]
HBB: NM_000518.5(HBB):c.316-197C>T [Pathogenic]
HBB: NM_000518.5(HBB):c.93-21G>A [Pathogenic/Likely 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.
✓Aprovado5
3Fase 37
2Fase 212
1Fase 14
·Pré-clínico20
Medicamentos catalogadosEnsaios clínicos· 5 medicamentos · 43 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Talassemia beta major

🗺️

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

Onde estão os ensaios

Com ensaio aberto em 4 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

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

Outros ensaios clínicos

43 ensaios clínicos encontrados, 7 ativos.

Distribuição por fase
NCT07660224 · The Effect of Motivational Interviewing on Treatment Adheren…Em breve
NA
NCT07509996 · Risk Factors Affecting Growth in Thalassemic Children at AUC…Em breve
NCT07288762 · Gonadal Function in Thalassemic PatientEm breve
NCT06980662 · The Effect of Laughter Yoga in Beta Thalassaemia Major Patie…Em breve
NATurkey (Türkiye)
NCT07863791 · Effect of Omega 3 Fatty Acids on Heart and Liver in Beta Tha…Concluído
PHASE2🇪🇬 Egito
NCT07486531 · Iron Accumulation in Erythrocytes in PatientsConcluído
Turkey (Türkiye)
NCT07153926 · Elastography vs Iron Regulators in the Diagnosis of Hepatic …Concluído
🇪🇬 Egito
NCT06291961 · A Safety and Efficacy Study Evaluating CS-101 in Subjects Wi…Concluído
PHASE1🇨🇳 China
NCT04092205 · Phase 2a Pilot Study of NBMI Treatment in Patients With Beta…Concluído
PHASE2Albania
NCT07782931 · Evaluate the Efficacy and Safety of Irochel for the Manageme…Concluído
PHASE3Pakistan
NCT03591575 · Safety and Efficacy of Early Treatment With Deferiprone in I…Concluído
PHASE4🇪🇬 Egito · Indonesia
NCT03851055 · Zinc Supplementation in Patients With β-Thalassemia Major Co…Concluído
PHASE3🇪🇬 Egito
NCT03948737 · The Effect of Alpha-tocopherol in Hemolysis and Oxidative St…Concluído
NAIndonesia
NCT02744547 · Effect of Spirulina on Serum Hyaluronic Acid in Beta Thalass…Concluído
NA🇪🇬 Egito
NCT02744105 · Effect of Spirulina on Liver Fibrosis by Transient Elastogra…Concluído
NA🇪🇬 Egito
NCT02674607 · the Potential Immunomodulatory Effects of Spirulina on Thala…Concluído
NA🇪🇬 Egito
NCT02342145 · Efficacy of Basiliximab in the Prevention of Acute Graft-ver…Concluído
PHASE4🇨🇳 China
NCT02671695 · Effect of Spirulina Compared to Amlodipine on Cardiac Iron O…Concluído
NA🇪🇬 Egito
NCT02744560 · Effect of Spirulina on Liver Iron Concentration in Beta Thal…Concluído
NA🇪🇬 Egito
NCT01610297 · Post Hematopoietic Stem Cell TransplantationConcluído
PHASE4Turkey (Türkiye)
NCT02151526 · A Study Evaluating the Safety and Efficacy of LentiGlobin BB…Concluído
PHASE1, PHASE2🇫🇷 França
NCT03947632 · Anthropometric Measurements in Children Having Transfusion-d…Concluído
NCT02435901 · HSCT For Patients With High Risk Hemoglobinopathies Using Re…Concluído
PHASE1, PHASE2🇺🇸 Estados Unidos
NCT00658385 · Assess the Feasibility and Safety of Granulocyte Colony Stim…Concluído
NA🇺🇸 Estados Unidos
NCT02198508 · Clinical Trial of Deferasirox Combination Treatment With Def…Concluído
NA
NCT00171301 · Extension Study of the Efficacy and Safety of Deferasirox Tr…Concluído
PHASE4🇪🇬 Egito · Lebanon · Oman +2
NCT06466304 · Inspiratory Muscle Training in Children With Beta ThalasemiaUNKNOWN
NA🇪🇬 Egito
NCT06069089 · Bone Denisty Change in Children With Beta Thalassemia MajorUNKNOWN
NCT04962984 · Thrombin Generation in Beta-thalassemia MajorUNKNOWN
NA
NCT04353986 · PK of SOF/LED in HCV - Infected Adolescents With Haematologi…UNKNOWN
PHASE3🇪🇬 Egito
NCT03276455 · Gene Therapy for Beta-Thalassemia Major Using Autologous Hem…UNKNOWN
PHASE1, PHASE2🇨🇳 China
NCT02984475 · The Potential Hepatoprotective Effect of Metformin in Patien…UNKNOWN
PHASE4🇪🇬 Egito
NCT03101423 · Monitoring of Chimerism After Transplantation in Patients Wi…UNKNOWN
NA🇨🇳 China
NCT02816957 · Benefits of Nigella Sativa in Children With Beta Thalassemia…UNKNOWN
EARLY_PHASE1🇪🇬 Egito
NCT02173951 · An Algorithm to Start Iron Chelation in Minimally Transfused…UNKNOWN
PHASE2, PHASE3🇪🇬 Egito
NCT01511848 · Study Of Efficacy,Safety of Combined Deferasirox and Deferip…UNKNOWN
PHASE2, PHASE3🇪🇬 Egito
NCT00999349 · Therapeutic Effects of Silymarin in Patients With B-thalasse…UNKNOWN
PHASE2, PHASE3Iran
NCT03040765 · Denosumab Versus Zoledronic Acid in Thalassemia-Induced Oste…Encerrado
PHASE3Qatar
NCT01571635 · Study to Determine the Safety and Tolerability of Sotatercep…Encerrado
PHASE2🇫🇷 França · Greece · 🇮🇹 Itália +1
NCT04776850 · Pre-transplant Immunosuppression and Donor Stem Cell Transpl…Cancelado
EARLY_PHASE1
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
1.204 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 1.204

#1

Antioxidant Effects of CoQ10 in Transfusion-Dependent β-Thalassemia Major Patients: Implications for Ferroptosis-Related Pathways.

Journal of blood medicine2026

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.

#2

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

Blood global hematology2026 Mar

Blood group serology frequently fails in chronically transfused patients. Discrepancies between phenotype and genotype were reported for 51% of patients with β-thalassemia in 2013; however, red cell genotyping has not become clinical routine in Turkey. We evaluated the current situation by reviewing all patients with β-thalassemia major at the main pediatric hematology outpatient clinic in Ankara for 9 months. A commercial kit was used for red cell genotyping, along with nucleotide sequencing in 51 patients. A total of 1734 antigens were determined by genotyping and were compared with the phenotype on record for 306 antigens of the Rh and Kell systems. We found up to 3 discrepancies in reported phenotype vs the genotype in 25 patients (49%). Notably, the discrepancy rate has remained unchanged over the past 10 years. The 3 patients with alloantibodies received significantly more transfusions than those without (90 ± 9 vs 73 ± 19; P = .015). Patients with discrepancies trended toward hepatic iron overload (84% vs 58%; P = .071). Other clinical parameters, namely transfusion frequency, growth, ferritin levels, and liver and cardiac functions, were comparable between patients with and those without discrepancies. By assessing red cell genotyping for its possible clinical benefit, we immediately improved transfusion practice in half of the children with β-thalassemia major. The implementation of red cell genotyping, a high-throughput method with a rapid turnaround time, will enhance antigen matching. Our real-world data may serve as evidence in the decision processes for the implementation of genotyping in countries in which red cell genotyping is not yet common practice.

#3

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

Neuroscience2026 Mar 27

Beta-thalassemia major (TM) is a severe genetic blood disorder that frequently leads to cognitive impairments in pediatric patients, yet its neurological impact remains insufficiently explored. This study investigates alterations in cerebral gray matter morphology and brain network topology in children with TM and their associations with cognitive performance. High-resolution brain MRI data were processed using FreeSurfer to extract cortical morphological features, from which individual-based Morphological Brain Networks (MBNs) were constructed based on vertex-wise similarity across gray matter regions. A cohort of 27 children with TM and 40 age-matched healthy controls underwent structural network analysis, standardized cognitive assessments, and comprehensive blood testing, including evaluations of hemoglobin and iron concentrations. Results revealed marked structural disruptions in the motor and temporal cortices of TM patients. Network-level analysis further identified topological abnormalities within fronto-parietal regions, suggesting altered structural connectivity patterns that may underlie observed cognitive deficits. Notably, iron overload was significantly correlated with both regional brain changes and impaired network organization, indicating a plausible mechanistic link between systemic iron dysregulation and neural dysfunction. These findings underscore the neurological vulnerability of children with TM and illuminate the structural basis of their cognitive challenges. The study highlights the need to integrate neuroimaging biomarkers with clinical hematological profiles to better understand TM's effects on brain development. Future work should aim to expand these findings through longitudinal designs and larger samples to inform early neurocognitive interventions and optimize treatment strategies for this vulnerable population.

#4

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 Transfusion2026 Jan

Children with thalassemia often suffer from complications such as muscle weakness, bone fragility, fatigue and reduced physical endurance. As strengthening exercises have the potential to enhance physical function, increase independence, and improve overall quality of life for thalassemic child and Closed Kinetic Chain (CKC) exercises are proven to be beneficial due to their ability to engage multiple muscle groups simultaneously, leading to improved muscle strength and balance. Therefore the aim of the study was to determine the effect of closed kinetic chain exercises via telerehabilitation on muscle strength, balance, fatigue, and haemoglobin levels in Beta Thalassemia Major children This study involved 32 children aged 8-15 years with Beta thalassemia major, divided into experimental group (n = 16) receiving CKC exercises via telerehabilitation for 30-40-minutes, twice a week for 8 weeks, the control group (n = 16) receiving education on importance of being physically activity. Outcome measures were assessed at baseline, 4th week and 8th week which included balance using Bruininks-Oseretsky Test of Motor Proficiency (BOT-2); muscle strength, measured via hand-held dynamometer; fatigue levels by (PQL-MFS); and haemoglobin levels via the spectrophotometric method The experimental group showed significant improvements in balance (p < 0.001), muscle strength (p < 0.001), and fatigue reduction (p < 0.005), but no significant changes were observed on haemoglobin levels. An 8-week CKC exercise program delivered via telerehabilitation significantly enhanced balance, muscle strength, and reduced fatigue in children with Beta Thalassemia Major, though it did not affect haemoglobin levels.

#5

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 Transfusion2026 Jan

This case-control study, which was performed at a tertiary care center in India, involved sixty children between the ages of 5 and 18 who were already being treated as case of beta thalassemia major. All participants underwent routine biochemical investigations encompassing complete hemogram, viral markers, LFT, KFT, serum ferritin as per treating unit protocol, and specific tests including a 12-hour fasting lipid profile, carotid artery intima thickness (CIMT), and serum apelin levels. Appropriate Statistical Analysis were performed and p value was calculated and set at < 0.05 for it to be statistically significant. The index study showed that children with beta thalassemia had significantly lower serum cholesterol, LDL and HDL levels when contrasted with age matched controls and were also found to have mean CIMT and serum apelin levels significantly higher with p value < 0.001. Children living with beta thalassemia major are more likely to develop early sub-clinical atherosclerosis, and measures of serum apelin level and carotid artery intima thickness can be used in addition to routine lab parameters to determine the early stages of atherosclerosis in these patients.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC923 artigos no totalmostrando 199

2026

Antioxidant Effects of CoQ10 in Transfusion-Dependent β-Thalassemia Major Patients: Implications for Ferroptosis-Related Pathways.

Journal of blood medicine
2026

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

Cureus
2026

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

Blood global hematology
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

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
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

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

Journal of inflammation research
2026

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

Journal of clinical medicine
2026

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

Hemoglobin
2026

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

Therapeutic advances in endocrinology and metabolism
2026

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

Therapeutic advances in hematology
2026

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

Case reports in hematology
2026

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

Scientific reports
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
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
2025

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

Pharmacogenomics
2026

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

Neuroscience
2025

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

Cureus
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

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

American journal of hematology
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

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

Immunohematology
2026

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

Human reproduction (Oxford, England)
2025

Nutritional deficiencies among adults with beta thalassemia major in Vietnam.

Public health nutrition
2025

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

Therapeutic advances in endocrinology and metabolism
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

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

Cureus
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
2026

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

International journal of cardiology
2025

Placenta Percreta in the Absence of a Previous Uterine Scar.

Cureus
2025

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

Diagnostics (Basel, Switzerland)
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

Immune cell reconstitution after allogeneic hematopoietic stem cell transplantation in children with β-thalassemia major.

Translational pediatrics
2025

Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major.

PloS one
2025

A Case Series on Beta Thalassemia Major With Secondary Diabetes Mellitus Due to Iron Overload and Other Complications.

Cureus
2025

Genetically Confirmed Dual Hematologic Disorder: A Case of β-Thalassemia with Frameshift Mutation and Type 3 von Willebrand Disease in a Pediatric Patient.

Hemoglobin
2026

Excellent Outcome of 1-Day Nonmyeloablative Salvage Regimen for Pediatric Patients with Graft Failure following Haploidentical Hematopoietic Stem Cell Transplantation.

Transplantation and cellular therapy
2025

Low rate of red cell alloimmunization among multiply transfused beta-thalassemia major patients in the Wasit province of Iraq.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2025

Evaluating Dried Blood Spot and Dried Blood Matrix as Alternatives to Venipuncture for Diagnosing Haemoglobinopathies in Adults: A Mass Spectrometric Approach.

Journal of mass spectrometry : JMS
2025

Glymphatic dysfunction as an imaging biomarker for cognitive impairment in patients with β-thalassemia major: A multimodal MRI study.

European journal of radiology open
2025

Chelation: The Double-Edged Sword. A Case Report of Invasive, Disseminated Mucor Mycosis in a Beta Thalassemia Major During Transplant.

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

Evaluation of osteoporosis in adult patients with beta-thalassemia major and its relation to serum sclerostin level.

Clinics and research in hepatology and gastroenterology
2025

Iron Overload and Its Impact on Liver Function and Lipid Profiles in Transfusion-Dependent β-Thalassemia Patients in Sana'a City.

Journal of blood medicine
2025

Impact of SNP Variants in PON-1 or UGT1A1 on Iron Chelation Therapy Outcomes and Zinc Status in Thalassemia Major Patients.

Biological trace element research
2025

Effect of Therapy Reminder Application on Treatment Adherence in Adults with Beta-Thalassemia Major: A Randomized Clinical Trial.

Iranian journal of medical sciences
2026

Late renal, liver, endocrine, and cardiac outcomes of bone marrow transplantation in Kurdish children with β-thalassemia major.

International journal of hematology
2025

Assessment of natural killer cell subpopulations in pediatric patients with transfusion-dependent β-thalassemia major.

Clinical and experimental pediatrics
2025

Machine and deep learning for MRI-based quantification of liver iron overload: a systematic review and meta-analysis.

Radiologie (Heidelberg, Germany)
2025

Abatacept improves posttransplant survival and reduces endothelial injury syndromes in β-thalassemia major.

Blood advances
2025

Challenges Associated with the Identification of Abnormal Hemoglobin Variants Utilizing the High-performance Liquid Chromatograph Technique: A Prospective Study in a Hospital Setting in Gujarat.

International journal of applied &amp; basic medical research
2025

Beta-Thalassemia Major With Iron Overload Cardiomyopathy and Refractory Cardiogenic Shock Requiring Mechanical Circulatory Support.

JACC. Case reports
2025

Evaluation of hepatotoxicity due to conditioning regimens in beta thalassemia major and aplastic anemia patients undergoing bone marrow transplantation.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2026

Population-adjusted cut-off: A new approach for enhancing the diagnostic efficacy of hematological discrimination formulae for screening β-Thalassemia trait.

Clinica chimica acta; international journal of clinical chemistry
2025

Dietary Patterns Among Patients With Beta-Thalassemia Major in Vietnam.

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association
2025

Assessment of health-related quality of life in transfusion dependent beta thalassemia.

Scientific reports
2025

Erythroid activity modulates iron regulation in pathological erythropoiesis: A cross-sectional case-control study.

The Indian journal of medical research
2025

Salvage Structures, Known as Iron Chelating Agents, Acquired from the Nature and Matured in the Labs.

Current medicinal chemistry
2025

Efficacy of combination chelation with deferasirox and deferiprone in children with beta-thalassemia major: an audit from a unit in the developing world.

Clinical and experimental medicine
2025

Magnitude of Beta-Hemoglobinopathies through Biomarkers among the Selected Tribes of Dharmapuri, Tamil Nadu: A Community-Based Cross-Sectional Study.

International journal of hematology-oncology and stem cell research
2025

Unveiling success: determinants of a successful haematopoietic stem cell transplant: a case report.

JPMA. The Journal of the Pakistan Medical Association
2025

Evaluation of Immune Functions in Transfusion-Dependent Thalassemia Patients with Alloimmunization.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2025

Prevalence of Candida albicans in the oral cavity of Beta Thalassemia Major and Thalassemia Minor Patients.

F1000Research
2025

Leptin and thyroid hormones in beta-thalassemia major: A cross-sectional study.

Caspian journal of internal medicine
2025

The Association between β-Thalassemia Major (β-TM) and Cardiac Complications: Recent Insights.

Current cardiology reviews
2025

Association of healthy eating behaviours and comorbidity on quality of life among adults with beta-thalassemia major: a moderation analysis.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
2025

Hyperhomocysteinemia in pediatric β-thalassemia: links to vitamin cofactor deficiencies and oxidative stress.

Clinical and experimental pediatrics
2025

Prediction model for cytomegalovirus infection following hematopoietic stem cell transplantation in patients with β-thalassemia major.

SAGE open medicine
2025

Risk-Stratified Pretransplant Immunosuppressive Strategy Improves Outcomes of Unrelated Cord Blood Transplantation in Pediatric β-Thalassemia Major.

Transplantation and cellular therapy
2025

Study of Thyroid Function in Children With Beta-Thalassemia Major.

Cureus
2025

Retinal Complications in a Patient With Pediatric Thalassemia: A Case Report.

Cureus
2025

Survey of Red Cell Transfusion Therapy and Immunohematology Services for Patients with Hemoglobinopathies in Türkiye.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2025

Coagulation and Fibrinolysis Dysregulation in β-Thalassemia Major: Potential Impact of Splenectomy and Medications on Thrombotic Risk.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2024

Vitamin D Deficiency among Blood Transfusion Dependent Beta Thalassemia Children Admitted to Tertiary Level Pediatric Hospital in Nepal: A Descriptive Cross-sectional Study.

JNMA; journal of the Nepal Medical Association
2025

Chronic myeloid leukemia in a patient with beta thalassemia major: a rare presentation.

Therapeutic advances in hematology
2025

The direct costs of transfusion-dependent beta-thalassemia in Saudi Arabia: A cost of illness analysis study.

Medicine
2025

KLF1 Knockdown Differentially Regulates γ-Globin Expression: Inhibition in K562 Cells but Reactivation in β-Thalassemia Major Erythrocytes with Erythropoiesis Disruption.

Hemoglobin
2025

Outcomes of Unrelated Donor Stem Cell Transplantation with Partial T Cell Depletion for Pediatric Patients with Hemoglobinopathies.

Transplantation and cellular therapy
2025

Seroepidemiology of Toxoplasma gondii infection among patients with beta-thalassemia major: a case-control study in Southeastern Iran.

BMC infectious diseases
2025

Impacts of Hematopoietic Stem Cell Transplantation on Quality of Life and Behavioral Outcomes in Pediatric Patients with Leukemia and Thalassemia.

Current oncology (Toronto, Ont.)
2025

Optical coherence tomography findings in beta-thalassemia major: a systematic review and Meta-analysis.

International journal of ophthalmology
2025

Study on Large-Scale Brain Network Abnormalities in Patients With Beta-Thalassemia.

Brain and behavior
2025

Correlation between vitamin D level and left ventricular myocardial function demonstrated by speckle tracking echocardiography among β-thalassemia major children.

European journal of pediatrics
2025

Moyamoya syndrome in a 6-year-old β-thalassemia major patient: A case report.

Radiology case reports
2025

Clinical course and management of hypertriglyceridemia thalassemia syndrome: A case-based systematic review.

World journal of clinical pediatrics
2025

The role of iron in normal and impaired testicular function.

Andrology
2025

Liver Function Parameters and Validation of Health-Related Quality of Life Assessment of β-Thalassemia Cases at a Tertiary Care Hospital, Lumbini Province, Nepal.

Kathmandu University medical journal (KUMJ)
2025

Using Blood Group Genotyping to Predict Hemolysis in Patients With β-Thalassemia Major With Frequent Transfusions: Protocol for a Cross-Sectional Study.

JMIR research protocols
2025

Clinical Image-Vertebral artery beading in a child with Beta Thalassemia major.

Oxford medical case reports
2025

The diagnosis of GH deficiency in adult β-thalassemic patients: are two different stimulation tests necessary to improve specificity?

Pituitary
2025

Spectrum of Ophthalmic Manifestations in Patients With Transfusion-Dependent Thalassemia.

Cureus
2025

Prevalence and Significance of Pancreatic Iron in Transfusion-Dependent Sickle Cell Disease.

Pediatric blood &amp; cancer
2025

Novel, potent, and orally bioavailable LSD1 inhibitors induce fetal hemoglobin synthesis in a sickle cell disease mouse model.

Blood
2025

Clinical Profile and Vitamin D Status in Beta Thalassemia Major Children at a Tertiary Care Institute of Central India: A Cross-Sectional Study.

Nigerian journal of clinical practice
2025

Experiences of Iranian Patients with Thalassemia Major Regarding Their Palliative and Supportive Care Needs: A Qualitative Content Analysis.

International journal of community based nursing and midwifery
2025

FACTORS AFFECTING HEALTH RELATED QUALITY OF LIFE IN ADULT PATIENTS WITH BETA-THALASSEMIA MAJOR.

Georgian medical news
2025

The Possibilities and Importance of Assessing the Left Atrioventricular Coupling Index Using Various Diagnostic Imaging Methods in an Adult Population: A Comprehensive Review.

Journal of cardiovascular development and disease
2025

Awareness About Thalassemia Among the Parents of Thalassemic Children in Balochistan: A Cross-Sectional Study.

Health science reports
2025

Assessment of ferritin and hepcidin levels in splenectomised and non-splenectomised β-thalassemia major patients and exploring a potential correlation with von Willebrand factor and ADAMTS-13.

Annals of hematology
2025

Investigation of alloimmunization in beta-thalassemia major patients: a cross-sectional study.

Annals of medicine and surgery (2012)
2025

The effect of aqueous extract of Iranian oak (Quercus brantii) on lipid profile and liver enzymes in beta-thalassemia patients: a randomized controlled trial, double-blind, placebo-controlled.

Frontiers in nutrition
2025

How bad can vision get in beta-thalassemia? A case report and review of the literature.

BMC ophthalmology
2025

Controlled release of deferiprone using iron-responsive nanoparticles integrated with dissolving microneedle for novel alternative treatments of β-thalassemia major.

European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V
2025

A challenging convergence of conditions in a patient with thalassemia major presenting with thymoma and lymphangioleiomyomatosis: a case report.

Journal of medical case reports
2025

Research on iron regulatory erythroid factors in children with β-thalassemia.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research
2025

Pancreatic Volume in Thalassemia: Determinants and Association with Alterations of Glucose Metabolism.

Diagnostics (Basel, Switzerland)
2025

Iron Overload-Related Oxidative Stress Leads to Hyperphosphorylation and Altered Anion Exchanger 1 (Band 3) Function in Erythrocytes from Subjects with β-Thalassemia Minor.

International journal of molecular sciences
2024

Correlation of Klotho Protein with Troponin-I as a Marker of Myocardial Damage in Iraqi Beta-Thalassemia Major Patients.

Reports of biochemistry &amp; molecular biology
2025

Pelvic extramedullary hematopoiesis with life-threatening hemorrhage: a case report.

International journal of emergency medicine
2025

Factors associated with phosphate homeostasis in children with beta-thalassemia major: An analytical cross sectional study from Pakistan.

PloS one
2025

Prevalence of Alloimmunization Events in Thalassemia Patients With Repeated Transfusions in the Rhesus Blood Group System: A Systematic Review and Meta Analysis.

Journal of clinical medicine research
2025

Effects of Thalidomide on Metabolism and Lifespan of Red Blood Cell in Patients With β-Thalassemia Major: A Post Hoc Analysis of a Randomized Controlled Trial.

Clinical therapeutics
2025

Lessons from Beta-Thalassemia for Improving Iron Overload Monitoring and Management in Kidney Failure.

Cureus
2025

Evaluation and Effect of Transfusion on Respiratory Functions in Patients with β-Thalassemia Major.

Pediatric allergy, immunology, and pulmonology
2025

Cardiac injury caused by iron overload in thalassemia.

Frontiers in pediatrics
2025

Systematic identification and validation of ceRNA-driven regulatory mechanisms in pediatric β-Thalassemia major.

Annals of hematology
2025

Left ventricular diastolic and systolic functions by cardiac magnetic resonance in beta-thalassemia major: correlation with clinical findings and cardiac complications.

The international journal of cardiovascular imaging
2025

Correlation study between magnetic resonance imaging-quantitated cardiac iron deposition and left ventricular function in patients with β-thalassemia major in China.

Science progress
2025

Assessment of cardiac iron deposition and genotypic classification in pediatric beta-thalassemia major: the role of cardiac MRI.

BMC medical imaging
2025

Family Planning practices among the parents of beta thalassemia major patients in Makran division, Balochistan: A cross-sectional study.

Pakistan journal of medical sciences
2025

Comparison of Asymptomatic Brain Lesions Between Thalassemia Major and Sickle Cell Anemia Patients.

Medicina (Kaunas, Lithuania)
2025

Beta-thalassemia major presenting as rachitic rosary in young adult.

BMJ case reports
2025

Pregnancy, delivery, and neonatal outcomes among women with beta-thalassemia major: a population-based study of a large US database.

Archives of gynecology and obstetrics
2024

Red blood cell alloimmunization among transfusion-dependent thalassemia major patients in Northeastern Iran.

Asian journal of transfusion science
2024

A scoping review on the obstacles faced by beta thalassemia major patients in Pakistan- Matter of policy investment.

AIMS public health
2024

Reproductive Health in Women with Major β-Thalassemia: Evaluating Ovarian Reserve and Endocrine Complications.

Metabolites
2024

Cardiovascular Effects of Splenomegaly and Splenectomy in Beta-Thalassemia Major.

Cureus
2024

Assessing the auditory effects of oral chelation therapy drug Deferasirox in individuals with β-thalassemia major.

World journal of otorhinolaryngology - head and neck surgery
2025

The role of miR-129-5p in regulating γ-globin expression and erythropoiesis in β-thalassemia.

Human molecular genetics
2024

The growth and development of children with β-thalassemia major one year after allogeneic hematopoietic stem cell transplantation.

Translational pediatrics
2025

Iron-responsive nanoparticle-loaded bilayer dissolving microneedles for selective and controlled transdermal delivery of deferasirox in β-thalassemia major treatment.

Colloids and surfaces. B, Biointerfaces
2024

Comparison of the effects of deferasirox film-coated tablets (Jadenu®) and deferasirox dispersible tablets (Exjade®) in patients with beta thalassemia major: a preliminary report of the effects on the satisfaction, convenience, cardiac/liver MRI T2*, serum ferritin level, and biochemical profiles.

Frontiers in pharmacology
2024

Shear Wave Elastography in the Assessment of Liver Iron Overload in Children With Beta Thalassemia Major.

Ultrasound quarterly
2024

Serum lipid profile abnormalities among beta-thalassemia patients: a systematic review and meta-analysis.

Lipids in health and disease
2024

COMPARISON OF DIFFERENT TREATMENT MODALITIES OF CHELATION THERAPY IN BETA-THALASSEMIA MAJOR PATIENTS.

Journal of Ayub Medical College, Abbottabad : JAMC
2025

Gut microbiota-derived TMAO and SIRT1/HMGB1 Axis: unveiling mechanisms of renal impairment in beta-thalassemia major.

Pediatric research
2024

Effects of Thalidomide on Endothelial Activation and Stress Index in Children with β-Thalassemia Major.

Mediterranean journal of hematology and infectious diseases
2024

Assessment of diagnostic accuracy of Gazelle: A point-of-care testing device for screening β-thalassemia trait.

The Indian journal of medical research
2024

Cardiovascular magnetic resonance in β-thalassemia major: beyond T2.

La Radiologia medica
2024

Case report: Acute liver failure during deferasirox therapy and the potential role of pharmacogenetics.

Frontiers in pharmacology
2024

Existing Tubular Injury in β-Thalassemia Major Patients Receiving Iron Chelating Agents with Normal Creatinine Level in East Java, Indonesia.

Hemoglobin
2024

Health-Related Quality of Life of Adolescents With Non-transfusion-Dependent Thalassemia in Basrah, Iraq.

Cureus
2024

Genetic Study for Identifying Beta Thalassemia Trait in Relatives of Children with Beta Thalassemia Major.

Cureus
2024

A Rare Case of Pulmonary Neuroendocrine Carcinoma in Transfusion-dependent Thalassemia Patient: Clinical Presentation, Management, and Implications.

Acta medica Indonesiana
2024

Impact of met-haemoglobin and oxidative stress on endothelial function in patients with transfusion dependent β-thalassemia.

Scientific reports
2025

Upregulation of miR‑6747‑3p affects red blood cell lineage development and induces fetal hemoglobin expression by targeting BCL11A in β‑thalassemia.

Molecular medicine reports
2024

Gene Therapy: A Revolutionary Step in Treating Thalassemia.

Hematology reports
2025

The gut microbiota metabolite trimethylamine-N-oxide in children with β-thalassemia: potential implication for iron-induced renal tubular dysfunction.

Pediatric research
2024

EVALUATION OF PROTEIN C AND S IN Β-THALASSEMIA MAJOR.

Georgian medical news
2024

Impact of Empagliflozin on the Outcomes of β-Thalassemia Major in Patients With Type 2 Diabetes Mellitus: The THALEMPA Observational Study.

Cureus
2024

β-Thalassemia Major Complicated by Acute Myeloid Leukemia.

Cureus
2024

Iron overload and liver function in patients with beta thalassemia major: A cross sectional study.

Pakistan journal of medical sciences
2024

Bone Mineral Density, Osteoporosis Prevalence and Influential Factors in Osteogenesis in Patients with Beta Thalassemia Major: A Cross-Sectional Study.

Iranian journal of public health
2024

Knowledge, attitude and acceptance regarding bone marrow transplantation in caregivers of beta-thalassemia major patients.

Journal of community genetics
2024

Histone modifications of circulating nucleosomes are associated with changes in cell-free DNA fragmentation patterns.

Proceedings of the National Academy of Sciences of the United States of America
2024

An Unexpected Detection of the Rare 48,XXYY in the Prenatal Diagnosis of a Fetus with β-Thalassemia Major.

Clinical laboratory
2024

Antioxidative effects of N-acetylcysteine in patients with β-thalassemia: A quick review on clinical trials.

Health science reports
2024

Early detection of myocardial iron overload in patients with β-thalassemia major using cardiac magnetic resonance T1 mapping.

Magnetic resonance imaging
2024

A rare glimpse of Fessas bodies in a patient with β-thalassemia major postsplenectomy.

Blood
2024

The effect of applying emotional intelligence components on coping strategies in adolescents with beta-thalassemia major: a randomized clinical trial.

BMC pediatrics
2024

Effectiveness of topical 25% silver nitrate solution followed by 5% fluoride varnish compared to 38% silver diamine fluoride in arresting and preventing dental caries among beta-thalassemia major patients: A randomized clinical trial.

Journal of dentistry
2024

Acute and Chronic Effects of Interval Aerobic Exercise on Hepcidin, Ferritin, and Liver Enzymes in Adolescents With Beta-Thalassemia Major.

Pediatric exercise science
2024

Evaluation of myocardial strain using cardiovascular magnetic resonance imaging in patients with β-thalassemia major.

Journal of cardiovascular imaging
2024

Assessment of Serum Vitamin D and Parathyroid Hormone in Children With Beta Thalassemia Major: A Case-Control Study.

Cureus
2023

Comparison of oral iron chelators in the management of transfusion-dependent β-thalassemia major based on serum ferritin and liver enzymes.

F1000Research
2024

Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report.

Cureus
2024

An Investigation of Group-Based Mobile Learning on Stress, Anxiety, Depression, and Pain Among Beta-Thalassemia Major Patients: A Randomized Control Trial.

Turkish archives of pediatrics
2024

Correlation of Electrocardiographic and Echocardiographic Changes with Serum Ferritin Level in Multi-Transfused β-Thalassemia Major Patients.

Indian journal of pediatrics
2024

Beta-Thalassemia Major and Myocardial Iron Overload: A Longitudinal Study with Magnetic Resonance Imaging.

Cardiology research and practice
2024

Global and regional cardiac magnetic resonance feature tracking left ventricular strain analysis in assessing early myocardial disease in β thalassemia major patients.

Journal of cardiovascular imaging
2024

Soluble Fms-like tyrosine kinase-1 as an endothelial dysfunction biomarker associated with pulmonary hypertension in adult patients with beta-thalassemia major.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research
2024

Multidisciplinary Management of Oral Manifestations in Pregnant Women with Beta-Thalassemia Major: A Case Report.

International medical case reports journal
2024

Association of serum ferritin trends with liver enzyme patterns in β-thalassemia major: A longitudinal correlational study.

Journal of family medicine and primary care
2024

Assessing Psychological Disorders in Turkish Adolescents with Transfusion-Dependent Thalassemia.

Children (Basel, Switzerland)
2024

Manuka combinations with nigella sativa and hydroxyurea in treating iron overload of pediatric β-thalassemia major, randomized clinical trial.

Heliyon
2024

Serum visfatin level in β-thalassemia and its correlation with disease severity.

Journal of medicine and life
2025

Neuroimaging in the diagnosis and treatment of cerebral toxoplasmosis in children with severe β-thalassemia after allo-HSCT.

Biomolecules &amp; biomedicine
2024

The effect of blood transfusion on serum hepcidin levels in chronically transfused patients of β-thalassemia major: An observational study in a tertiary care centre in Western Maharashtra.

Asian journal of transfusion science
2024

Multisystem inflammatory syndrome in children with COVID-19 in a multitransfused patient.

Asian journal of transfusion science
2024

Hematopoietic Stem Cell Transplantation in Children with Sickle Cell Disease and Thalassemia Major: A National Database Study.

Pediatric hematology and oncology
2024

Health-related Quality of Life of Omani Adult Patients with β-Thalassemia Major at Sultan Qaboos University Hospital.

Oman medical journal
2024

Global longitudinal strain by cardiac magnetic resonance is associated with cardiac iron and complications in beta-thalassemia major patients.

International journal of cardiology
2024

Cross-sectional study on the impact of cardiac and hepatic iron overload, as measured by MRI T2*, on the quality of life in children with severe beta-thalassemia major.

Medicine
2025

Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.

Biochemical genetics
2024

Prevalence 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
2024

Outcome of Cyclophosphamide Treatment Following Hematopoietic Stem Cell Transplantation in a Thalassemia Patient: A Case Study.

Iranian journal of immunology : IJI
2024

Exploring the Clinical and Hematological Characteristics of Beta-Thalassemia Trait: A Comprehensive Analysis in a Tertiary Care Hospital Setting.

Cureus
2024

How Age, Sex and Transfusion Affects the Incidence of Endocrine and Bone Density Disorders in Major Thalassemic Patients.

Iranian journal of public health
2024

Beta-Thalassemia in Adulthood Previously Suspected as Treatment-Resistant Iron Deficiency Anemia: A Case Report.

Cureus
2024

Capnocytophaga canimorsus Meningitis Complicated by Septic Shock: The Use of Extracorporeal Blood Purification Techniques.

Cureus
2024

HHV6-Associated Hydrocephalus in a Pediatric Hematopoietic Stem Cell Transplant Recipient: An Unusual Presentation.

Journal of pediatric hematology/oncology
2024

Effects of Splenectomy on Natural Killer Cell Levels in β-Thalassemia Major Patients.

Journal of clinical laboratory analysis
2024

COMPARATIVE STUDY OF OXIDATIVE STRESS IN PATIENTS WITH Β -THALASSEMIA MAJOR ON DEFERASIROX VERSUS DEFEROXAMINE THERAPY.

Georgian medical news
Ver todos os 923 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Talassemia beta major e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

A condição é causada por mutações patogênicas no gene HBB, que prejudicam a formação adequada da subunidade beta da hemoglobina. Possui padrão de herança autossômica recessiva, herdada quando pai e mãe transmitem cópias com mutação do gene.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

10 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. 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 Transfusion2026PMID 41522554
  2. ORPHA:231214
    Orphanet
  3. GARD:17162
    GARD (NIH)
  4. Q56013833
    Wikidata

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (s.d.). Talassemia beta major. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/talassemia-beta-major

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Talassemia beta major

ORPHA:231214 · MONDO:0016486
🇧🇷 Brasil SUS
CEAF
1ADeferasirox
SIGTAP
1 procedimentos
Geral
Prevalência
Unknown
Herança
Autosomal recessive
CID-10
D56.1 · Talassemia beta
CID-11
Ensaios
7 ativos
Medicamentos
5 registrados
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0002875
Repurposing
2 candidatos
deferasirox — chelating agent
deferiprone
EuropePMC
Wikidata
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Dado público estruturado
fonte: Wikidata
Moléculas estudadas na doença
fonte: OpenTargets
Rara