Raras
Buscar doenças, sintomas, genes...
Beta-talassemia e doenças relacionadas
ORPHA:275749CID-10 · D56.1PCDT · SUSDOENÇA RARA

A hepcidina é uma proteína que, em humanos, é codificada pelo gene HAMP. A hepcidina é um regulador chave da entrada do ferro para a circulação em mamíferos.

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Introdução

O que você precisa saber de cara

📋

Doença genética rara caracterizada por produção deficiente de hemoglobina beta, levando a anemia hemolítica, palidez, anisocitose e possíveis complicações cardiovasculares. Afeta a produção de glóbulos vermelhos, resultando em fadiga e outros sintomas.

Medicamentos
7 registrados
AZACITIDINE, AMLODIPINE, RUXOLITINIB

Tem tratamento?

7 medicamentos registrados
Ver detalhes, fases e interações →
AZACITIDINEAMLODIPINERUXOLITINIBHYDROXYUREASOTATERCEPTSAPABLURSENBETIBEGLOGENE AUTOTEMCEL
🏥
SUS: Cobertura parcialScore: 45%
PCDT disponível3 medicamentos CEAFCID-10: D56.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (1)
0202010317
Eletroforese de hemoglobinaslab_test
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
12 sintomas
🩸
Sangue
11 sintomas
📏
Crescimento
10 sintomas
🦴
Ossos e articulações
9 sintomas
❤️
Coração
5 sintomas
🫁
Pulmão
3 sintomas

+ 35 sintomas em outras categorias

Características mais comuns

Anisocitose
Anormalidade do sistema cardiovascular
Artralgia
Irritabilidade
Reticulocitose
Hiperpigmentação da pele
96sintomas
Sem dados (96)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 96 características clínicas mais associadas, ordenadas por frequência.

AnisocitoseAnisocytosis
Anormalidade do sistema cardiovascularAbnormality of the cardiovascular system
ArtralgiaArthralgia
IrritabilidadeIrritability
ReticulocitoseReticulocytosis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2
Últimos 10 anos200publicações
Pico2025115 papers
Linha do tempo
2024Hoje · 2026🧪 1998Primeiro 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

6 genes identificados com associação a esta condição.

HBDHemoglobin subunit deltaCandidate gene tested inTolerante
FUNÇÃO

Involved in oxygen transport from the lung to the various peripheral tissues

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Factors involved in megakaryocyte development and platelet production
EXPRESSÃO TECIDUAL(Tecido-específico)
Sangue
16607.4 TPM
Baço
113.1 TPM
Pulmão
29.6 TPM
Rim - Medula
18.7 TPM
Rim - Córtex
12.8 TPM
OUTRAS DOENÇAS (2)
delta-beta-thalassemiahemoglobin Lepore-beta-thalassemia syndrome
HGNC:4829UniProt:P02042
HBG1Hemoglobin subunit gamma-1Candidate gene tested inRestrito
FUNÇÃO

Gamma chains make up the fetal hemoglobin F, in combination with alpha chains

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Factors involved in megakaryocyte development and platelet production
EXPRESSÃO TECIDUAL(Tecido-específico)
Sangue
25.4 TPM
Baço
0.5 TPM
Pulmão
0.3 TPM
Cervix Ectocervix
0.3 TPM
Rim - Medula
0.1 TPM
OUTRAS DOENÇAS (3)
delta-beta-thalassemiahereditary persistence of fetal hemoglobin-sickle cell disease syndromehereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
HGNC:4831UniProt:P69891
KLF1Krueppel-like factor 1Candidate gene tested inTolerante
FUNÇÃO

Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Abl

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
BMAL1:CLOCK,NPAS2 activates circadian expression
MECANISMO DE DOENÇA

Anemia, congenital dyserythropoietic, 4A

An autosomal dominant blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals also have increased levels of fetal hemoglobin.

EXPRESSÃO TECIDUAL(Tecido-específico)
Sangue
21.6 TPM
Baço
1.4 TPM
Pulmão
0.4 TPM
Testículo
0.3 TPM
Brain Anterior cingulate cortex BA24
0.2 TPM
OUTRAS DOENÇAS (5)
congenital dyserythropoietic anemia type 4anemia, congenital dyserythropoietic, type IVbobsolete blood group--lutheran inhibitorhereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HGNC:6345UniProt:Q13351
GATA1Erythroid transcription factorDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcriptional activator or repressor which serves as a general switch factor for erythroid development (PubMed:35030251). It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781)

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (3)
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet functionRUNX1 regulates transcription of genes involved in differentiation of HSCsFactors involved in megakaryocyte development and platelet production
MECANISMO DE DOENÇA

X-linked dyserythropoietic anemia and thrombocytopenia

Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes.

EXPRESSÃO TECIDUAL(Tecido-específico)
Sangue
25.8 TPM
Pulmão
3.7 TPM
Testículo
3.6 TPM
Baço
1.9 TPM
Pituitária
0.8 TPM
OUTRAS DOENÇAS (10)
transient myeloproliferative syndromethrombocytopenia, X-linked, with or without dyserythropoietic anemiahemolytic anemia due to erythrocyte adenosine deaminase overproductionX-linked dyserythropoetic anemia with abnormal platelets and neutropenia
HGNC:4170UniProt:P15976
HBG2Hemoglobin subunit gamma-2Candidate gene tested inDesconhecido
FUNÇÃO

Gamma chains make up the fetal hemoglobin F, in combination with alpha chains

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Factors involved in megakaryocyte development and platelet production
MECANISMO DE DOENÇA

Cyanosis transient neonatal

A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain.

EXPRESSÃO TECIDUAL(Tecido-específico)
Sangue
62.6 TPM
Baço
1.8 TPM
Pulmão
0.8 TPM
Cervix Ectocervix
0.8 TPM
Ovário
0.6 TPM
OUTRAS DOENÇAS (4)
cyanosis, transient neonatalhemoglobinopathy Toms Riverhereditary persistence of fetal hemoglobin-sickle cell disease syndromehereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
HGNC:4832UniProt:P69892
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)

144 variantes patogênicas registradas no ClinVar.

🧬 HBD: GRCh37/hg19 11p15.4(chr11:5187270-5268464)x1 ()
🧬 HBD: NC_000011.10:g.5168748_5240702del ()
🧬 HBD: Single allele ()
🧬 HBD: Single allele ()
🧬 HBD: Single allele ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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.
2Fase 27
1Fase 12
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 7 medicamentos · 5 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 e doenças relacionadas

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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

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Outros ensaios clínicos

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Distribuição por fase
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#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

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 open2026 Feb 02

Recent advances in treatment and care have improved survival rates for children and young adults with severe blood disorders such as sickle cell disease (SCD), transfusion-dependent beta-thalassaemia (TDT) and acute leukaemia. However, their quality of life and reproductive and psychosocial outcomes are not yet well studied. For SCD and TDT, robust survival data are mainly limited to North America. Thus, there is a need to fill these knowledge gaps to guide improvements in care, address unmet clinical needs and rigorously assess the efficacy of emerging novel therapies. This is an observational population-based mixed-methods study of individuals diagnosed with SCD, TDT or acute leukaemia when under the age of 18 in England, involving a data linkage component and a patient-reported outcomes measures survey. Data linkage-eligible participants will be identified from national and regional databases, including the Hospital Episode Statistics, Yorkshire Specialist Register of Cancer in Children & Young People and the National Congenital Anomaly and Rare Diseases Registration Service. Data linkage will be processed within the NHS England and the University of Leeds' secure, trusted research environments. Data will be accessed without consent under section 251 and approval by the confidentiality advisory group. It will assess survival rates for SCD and TDT as well as clinical, educational and mental health outcomes for SCD, TDT and acute leukaemia diagnosed in childhood.Survey-eligible participants for SCD, TDT and acute leukaemia cohorts will be checked for their suitability to participate by the North of England clinical care teams. An NHS-approved survey provider will facilitate data checks with the NHS National Data Opt-Out Service. Consent is required for participation in the survey and for subsequent data linkage to existing databases. Surveys are conducted in various formats (online, paper and phone), with reminders sent after 21 days. The survey will assess quality of life and psychosocial and reproductive outcomes. Participants can withdraw at any time, and support is available via telephone helplines. The study has received ethical and information governance approval from the Health Research Authority (Reference 24/YH/0186) and the Confidentiality Advisory Group (CAG 24/CAG/0138) to process identifiable data without consent. Study results will be available to patients, physicians, researchers, stakeholders and others through open-access publishing, results sharing via media platforms and presentations at conferences and meetings.

#3

Nonclinical evaluation of renizgamglogene autogedtemcel for SCD and TDT.

Molecular therapy : the journal of the American Society of Gene Therapy2026 Jan 07

Sickle cell disease and transfusion-dependent β-thalassemia can be treated by fetal hemoglobin upregulation. Disruption of the distal BCL11A binding site at the HBG1/2 promoters to induce fetal hemoglobin using either SpCas9 or AsCas12a mimics multiple hereditary persistence of fetal hemoglobin mutations. AsCas12a showed higher editing efficiency, higher specificity, and increased fetal hemoglobin induction potential compared with SpCas9. AsCas12a-edited healthy donor CD34+ cells exhibited long-term, multi-lineage, and polyclonal engraftment in immunocompromised mice. High-level fetal hemoglobin induction was observed in erythroid progeny derived in vivo from edited healthy donor CD34+ cells and sickle cell disease or transfusion-dependent β-thalassemia donor CD34+ cells in vitro. In erythroid cells from patients with sickle cell disease, gene editing reduced sickling and improved rheological behaviors under deoxygenated conditions. In erythroid cells from patients with β-thalassemia, gene editing ameliorated ineffective erythropoiesis and significantly increased hemoglobin content per cell. A comprehensive off-target editing evaluation in edited CD34+ cells showed AsCas12a to be highly specific, with no off-target editing detected. In summary, editing CD34+ cells at the HBG1/2 promoter distal BCL11A binding site using AsCas12a phenocopied hereditary persistence of fetal hemoglobin mutations, demonstrating its potential as a gene editing approach for the treatment of β-hemoglobinopathies.

#4

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

BioMed research international2026

Thalassemia is considered a significant health concern. Previous studies had shown that numerous adipokines, including fatty acid binding protein 4 (FABP4), might contribute to the development of complications in thalassemia. This study is aimed at investigating FABP4 levels in thalassemia major patients receiving regular blood transfusions as well as to explore the association between FABP4 and target organ functioning as kidney and liver. Serum samples were collected from 154 individuals with thalassemia major and subjected to various analyses, including hematological assessments, biochemical evaluations (kidney and liver functions), and immunological screenings using enzyme-linked immunosorbent assay (ELISA). Examination of sociodemographic and disease-related factors indicated osteoporosis emerging as the predominant comorbidity. Elevated ferritin levels, an increased platelets (PLT) count, higher nucleated red blood cell (NRBC) count, and elevated bilirubin (BIL) levels in patient serum were observed. Conversely, creatinine levels were significantly low, with a mean of 21.7 and 25.4 μmol/L in females and males, respectively. FABP4 levels exhibited more frequent increases in females of p value = 0.03, particularly in the age groups of (13-18, 19-30) years; respectively, FABP4 levels had a significant difference of p value = 0.003 with the aspartate aminotransferase/alanine aminotransferase (AST/ALT) ratio. A significant difference was seen between serum FABP4 and bilirubin and AST/ALT ratio, showing a connection between serum FABP4 and liver injury and kidney complications. Consequently, while further studies are essential for a comprehensive exploration of this hypothesis, serum FABP4 may have a potential role in chronic diseases in thalassemia patients.

#5

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 haematology2026 Mar 19

In the phase 2, double-blind, randomized controlled BEYOND trial (NCT03342404), luspatercept increased hemoglobin levels in patients with non-transfusion-dependent β-thalassemia (NTDT). This study assessed long-term effects of luspatercept on patient-reported outcomes (PROs), using data from BEYOND and patients who continued luspatercept treatment in the phase 3b long-term follow-up (LTFU) study (NCT04064060). In BEYOND, patients received luspatercept or placebo Q3W for ≥ 48 weeks. PRO instruments included NTDT-PRO (BEYOND only), Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F), and 36-Item Short Form Survey (SF-36). Mixed-effects models with repeated measures estimated least squares mean changes from baseline in PROs. PROs were evaluable in 144 patients (luspatercept 95, placebo 49) from BEYOND and 58 (luspatercept) from LTFU. Luspatercept improved NTDT-PRO tiredness/weakness and shortness of breath domain, FACIT-F fatigue subscale, and SF-36 vitality scores versus placebo through double-blind treatment (generally maintained through week 96). In LTFU patients, significant, meaningful improvements from baseline in FACIT-F fatigue subscale and SF-36 vitality scores were observed within 12 weeks of treatment initiation and maintained for up to 5 years. Other FACIT-F and SF-36 domains improved or were maintained throughout LTFU. Luspatercept offers rapid and durable benefits by improving anemia-related symptoms and quality of life in patients with NTDT. Trial Registration: ClinicalTrials.gov Identifier: NCT03342404; NCT04064060.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

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

Journal of blood medicine
2026

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

BioMed research international
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

Genetics and Genomics in Sickle Cell Disease in Africa.

American journal of hematology
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

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

Therapeutic advances in hematology
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
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

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
2026

Two Novel SUPT5H Variants Causing β-Thalassemia Trait Phenotypes.

Hemoglobin
2026

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

Healthcare (Basel, Switzerland)
2026

Clinical Applications of Ligand Traps Targeting Activin Type II Receptors.

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

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

International immunopharmacology
2025

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

Human genomics
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

Left ventricular strain and chamber dimensions in pediatric sickle cell disease: age-related reduction in myocardial deformation independent of hemolysis and hydroxyurea therapy.

Haematologica
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

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

BMC medicine
2025

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

Diagnostics (Basel, Switzerland)
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

Thalassemia and hypercoagulability.

Hematology. American Society of Hematology. Education Program
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

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

Cells
2026

The relation between sleep and pain sensitization in pediatric sickle cell disease.

Journal of pediatric psychology
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
2025

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

European journal of pediatrics
2025

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

Functional &amp; integrative genomics
2025

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

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

Psychology, health &amp; medicine
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

Utility of long-read sequencing to delineate a rare large deletion of beta-globin gene which escaped Sanger sequencing at prenatal diagnosis in a family clustered with hereditary persistence of fetal hemoglobin.

Taiwanese journal of obstetrics &amp; gynecology
2025

Biopsy-proven Crescentic Glomerulonephritis Following Inhaled Methamphetamine Use: An Exceptional Case of Confirmed Drug-induced Glomerular Injury.

Kidney medicine
2025

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

Cureus
2025

A novel 17.9 kb deletion of the beta-globin gene causing beta-thalassemia trait in a Danish male.

Clinical biochemistry
2025

Comprehensive regulation of γ-globin expression by epigenetic modifications and protein post-translational modifications.

Clinical epigenetics
2026

Expression of Immune Checkpoints LAG-3, CTLA-4, TIM-3, and PD-1 in Beta-Thalassemia Patients Treated Using HbF Augmentation Therapy and Regular Transfusions.

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

Association of depression and hydroxyurea use with neuropathic pain in hemoglobinopathies.

Scientific reports
2025

Radiologic Evaluation of Paranasal Sinuses in Sickle Cell Anemia and Thalassemia: Case-Control Study.

Laryngoscope investigative otolaryngology
2025

Early thalassemia screening via hemoglobin β-subunit detection: a portable PDA-PoPD-MWCNT electrochemical immunosensor.

Analytical methods : advancing methods and applications
2025

Histopathologic and Molecular Evidence of Splenic Infarction Associated with Sickle Cell Trait: An Instructive Case in Central America.

The American journal of tropical medicine and hygiene
2025

Clinical burden and healthcare resource utilization of patients with sickle cell disease and recurrent vaso-occlusive crises or transfusion-dependent beta-thalassemia in The Netherlands.

Current medical research and opinion
2025

Coexistence of Hereditary Spherocytosis, Beta-Thalassemia Trait and Gilbert Syndrome in a Newborn: A Rare Genetic Profile.

Fetal and pediatric pathology
2026

Nonclinical evaluation of renizgamglogene autogedtemcel for SCD and TDT.

Molecular therapy : the journal of the American Society of Gene Therapy
2025

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

Iranian journal of medical sciences
2025

From CBC to clarity: Interpretable detection of beta-thalassemia carriers in imbalanced datasets.

PloS one
2025

Genetic biomarkers and crucial cell subsets of iron metabolism in Beta-Thalassemia: insights from bioinformatics and experimental validation.

Annals of hematology
2025

Beta Thalassemia Manifesting as a Leukemoid Reaction: A Rare Case Report.

The Journal of the Association of Physicians of India
2025

The ENERGIZE trial: Is mitapivat ready to take center stage in NTDT management?

Med (New York, N.Y.)
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

Nontrauma-Associated Cerebral Fat Embolism Syndrome in Sickle Cell-Related Hemoglobinopathies: A Case Series and Systematic Review.

AJNR. American journal of neuroradiology
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
2025

The disease burden of β-thalassaemia revisited.

Hematology (Amsterdam, Netherlands)
2025

Epigenetic mechanisms and next-gen editing platforms in hematology: From molecular basis to therapeutic frontiers.

Critical reviews in oncology/hematology
2025

Development of a low-cost and high-throughput LC-MS method for newborn screening of thalassemia and abnormal hemoglobin disorders.

World journal of pediatrics : WJP
2025

Whole-Brain Analysis of Increased Brain Iron in Patients with β-Thalassemia.

Academic radiology
2026

Prevalence of the Main Human Genetic Variants Related to Resistance to Malaria in a Population of the Colombian Pacific Coast.

Annals of human genetics
2025

Exploring the role of consanguinity in thalassemia prevalence in Pakistan: an in-depth analysis of genetic and cultural factors affecting public health.

Annals of medicine and surgery (2012)
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

Pulmonary Hypertension Among Individuals Living With Hemoglobinopathies: A Systematic Review.

Cureus
2025

Colchicine induces developmental defects and renal toxicity in zebrafish by upregulating the oxidative stress.

Comparative biochemistry and physiology. Toxicology &amp; pharmacology : CBP
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

Safety and Feasibility of Fertility Preservation and Fertility Outcomes in Patients with Sickle Cell Disease and Transfusion-Dependent Beta Thalassemia Undergoing Gene Therapy.

Transplantation and cellular therapy
2025

Beyond the blood: A practical guide to thalassemia care in the emergency department.

Blood reviews
2025

Impact of lifetime anaemia and iron control on outcomes in β-thalassaemia: Data from the longitudinal de-LIGHT study.

British journal of haematology
2025

A case of erosive oral lichen planus in a child affected by β-Thalassemia after 5 years from bone marrow transplantation.

BMC oral health
2025

Psychosocial Problems in the Siblings of Multitransfused Thalassemia Patients.

Cureus
2025

Characterisation of β-thalassemia mutations in a tertiary care referral hospital in southern India- A descriptive study.

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

Single-cell RNA sequencing uncovers abnormal Sertoli-cell elevation and testicular niche impairment in the transfemales's testis.

Cell &amp; bioscience
2025

Disrupting ZBTB7A or BCL11A binding sites reactivates fetal hemoglobin in erythroblasts from healthy and β0-thalassemia/HbE individuals.

Scientific reports
2025

Unveiling Rare Hemoglobinopathies: Hematologic Characterization of Double Heterozygous Hb D and Hb E With Beta-Thalassemia-A Case Report.

Case reports in hematology
2025

CRISPR-based therapeutic genome editing for inherited blood disorders.

Nature reviews. Drug discovery
2025

Co-Induction of ULK-1 and AHSP mRNAs in Erythroid Precursor Cells Isolated From a Sirolimus-Treated β-Thalassemia Patient: A Case Report Study.

British journal of biomedical science
2025

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

Transplantation and cellular therapy
2025

Current Landscape of Hepcidin Therapeutics.

Advances in experimental medicine and biology
2025

Sickle Cell Hepatopathy With Acute Hepatic Sequestration and Extreme Hyperbilirubinemia.

Cureus
2025

Orphan Nuclear Receptors TR2 and TR4 in Erythropoiesis: From Mechanisms to Therapies.

Biomolecules
2025

Ischemic Stroke as the Initial Presentation of Sickle Beta Thalassemia in an Adolescent: A Case Report.

Cureus
2025

Thalassemia in Sub-Saharan Africa: epidemiology, diagnosis, and management - a narrative review.

Annals of medicine and surgery (2012)
2025

To pursue gene therapy or not? Is it feasible after graft failure in allogeneic hematopoietic cell transplant recipients.

Blood advances
2025

Plasma Zinc and Magnesium Levels in Sickle Cell Disease Patients in Latakia, Syria.

Cureus
2025

The phenotypes of sickle cell disease: strategies to aid the identification of undiagnosed patients in the Italian landscape.

Italian journal of pediatrics
2025

Potential applications of components of aged garlic extract in mitigating pro-inflammatory gene expression linked to human diseases (Review).

Experimental and therapeutic medicine
2025

[Delayed physical growth and related factors in pediatric patients with transfusion-dependent thalassemia].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2025

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

Cureus
2025

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

Blood
2025

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

Georgian medical news
2025

Therapeutic promise of CRISPR-Cas9 gene editing in sickle cell disease and β-thalassemia: A current review.

Current research in translational medicine
2025

A comprehensive case study of deep learning on the detection of alpha thalassemia and beta thalassemia using public and private datasets.

Scientific reports
2025

Health-related quality of life and economic impacts in adults with transfusion-dependent β-thalassemia: findings from a prospective longitudinal real-world study.

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

Evaluated NSUN3 in reticulocytes from HbH-CS disease that reflects cellular stress in erythroblasts.

Annals of hematology
2025

Outcome of Haematopoietic Stem Cell Transplant in Beta-Thalassaemia Major: Single Centre Experience from a Low- and Middle-Income Country.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2025

Genetic landscape and hematological profiling of thalassemia in patients from the Malwa region, Central India.

Molecular genetics and genomics : MGG
2025

A rare -α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple.

Hematology (Amsterdam, Netherlands)
2025

Rickettsia Felis Case Cluster in a Military Family.

Military medicine
2025

Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review.

Orphanet journal of rare diseases
2025

Clinical Outcomes Among Patients With Sickle Cell Disease and Transfusion-Dependent Beta-Thalassemia Treated With Allogeneic Hematopoietic Stem Cell Transplantation: A Systematic Literature Review.

Journal of blood medicine
2025

Biosensing of single-nucleotide polymorphism: Technological advances and their transformative applications on health.

Biosensors &amp; bioelectronics
2025

Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H Variants.

Hemoglobin
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

Kawasaki-like illness following COVID-19 infection in a minor β-thalassemic girl.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica
2025

Prevalence and Detection of Novel Thalassemia Variant hemoglobin J in Extensive Tharu Population.

Annals of African medicine
2024

Characterization Of Beta Thalassaemia Mutations In Patients Having Borderline Haemoglobin A2 Levels.

Journal of Ayub Medical College, Abbottabad : JAMC
2025

Creating New Cis-Regulatory Elements of HBD to Reactivate Delta-Globin.

Human gene therapy
2025

Comparative analysis of mortality patterns and treatment strategies in thalassaemia and sickle cell disease patients: A 12-year study.

British journal of haematology
2024

Experiences of family caregivers of children living with thalassaemia-major in Karachi: a phenomenological study.

BMJ public health
2025

Novel AK-1 gene variants combined with thalassemia causing rare hereditary non-spherocytic hemolytic anemia in a Chinese family.

Annals of hematology
2025

Rapid detection of genetic modifiers of β-thalassemia based on MALDI-TOF MS.

Annals of hematology
2025

Experiences of traumatized mothers caring for their thalassemia children after the earthquakes in Turkey and their expectations from nurses: a qualitative study.

BMC nursing
2025

Two Nonmyeloablative HLA-Matched Related Donor Allogeneic Hematopoietic Cell Transplantation Regimens in Patients with Severe Sickle Cell Disease.

Transplantation and cellular therapy
2025

Exploratory Review and In Silico Insights into circRNA and RNA-Binding Protein Roles in γ-Globin to β-Globin Switching.

Cells
2025

Long-term efficacy and safety of luspatercept for the treatment of anaemia in patients with transfusion-dependent β-thalassaemia (BELIEVE): final results from a phase 3 randomised trial.

The Lancet. Haematology
2025

Successful Second Hematopoietic Stem Cell Transplantation Using Total Body Irradiation-Based Conditioning for Children With Transfusion-Dependent Beta-Thalassemia.

Journal of hematology
2025

Male reproductive phenotype alterations in heterozygous β-globin gene knockout thalassemia (BKO) mice as a model for β-thalassemia patients.

Scientific reports
2025

Evaluation of β-thalassemias in the premarital hemoglobinopathy screening program: A retrospective study.

Pakistan journal of medical sciences
2025

Automated Quantitative Assessment of Retinal Vascular Tortuosity in Patients with Sickle Cell Disease.

Ophthalmology science
2025

Navigating Hope and Complexity: Turkish Parents’ Experiences with Savior Siblings.

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

Dual α-globin-truncated erythropoietin receptor knockin restores hemoglobin production in α-thalassemia-derived erythroid cells.

Cell reports
2024

Association of Serum Ferritin With Growth and Endocrine Function in Thalassemia Major Children in North India: An Observational Study.

Cureus
2025

First clinical and pedigree study of rare HBB: c.316-90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.

Annals of hematology
2025

Bone and Joint Involvement in Beta Thalassemic Patients: A Cross-sectional Study.

Indian journal of orthopaedics
2024

[Clinical characteristics of cytokine release syndrome after haploidentical hematopoietic stem cell transplantation for thalassemia major].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2025

Early Engraftment and Immune Kinetics Following Allogeneic Transplant Using a Novel Reduced-Toxicity Transplant Strategy in Children/Adolescents with High-Risk Transfusion-Dependent Thalassemia: Early Results of the ThalFAbS Trial.

Transplantation and cellular therapy
2025

Mutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globin.

Blood
2025

Standardization of hemoglobin A2 and hemoglobin F: Achievements and perspectives.

Clinica chimica acta; international journal of clinical chemistry
2025

Convolutional neural networks for automatic MR classification of myocardial iron overload in thalassemia major patients.

European radiology
2024

Burden of illness of non-hematopoietic stem cell transplant-related hepatic sinusoidal obstruction syndrome: A systematic review.

Heliyon
2025

Therapeutic potential of synthetic and natural iron chelators against ferroptosis.

Naunyn-Schmiedeberg's archives of pharmacology
2024

Exploring Novel Strategies to Alleviate Symptoms of β-Globinopathies: Examining the Potential Role of Embryonic ε-globin Induction.

Transfusion medicine reviews
2024

The Validation of Whole β-Globin Gene Sequencing for Detecting β-Thalassemia Mutations Found in Thailand Using Next-Generation Sequencing (NGS).

Hemoglobin
2024

Betibeglogene autotemcel gene therapy in patients with transfusion-dependent, severe genotype β-thalassaemia (HGB-212): a non-randomised, multicentre, single-arm, open-label, single-dose, phase 3 trial.

Lancet (London, England)
2024

Association of age to nutritional status and muscle mass in children with transfusion-dependent β-thalassemia: a cross-sectional study.

Frontiers in nutrition
2024

Whole Blood Transcriptome Analysis in Congenital Anemia Patients.

International journal of molecular sciences
2024

Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies.

International journal of molecular sciences
2025

Memantine treatment in sickle cell disease: A 1-year study of its effects on cognitive functions and neural processing.

British journal of haematology
2024

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

Hemoglobin
2025

Clinical Burden and Healthcare Resource Utilization Associated With Managing Transfusion-dependent β-Thalassemia in England.

Clinical therapeutics
2024

Health-related quality of life and associated factors among children with Transfusion-dependent β-thalassaemia: a cross-sectional study in Guangxi Province.

Health and quality of life outcomes
2024

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

Cureus
2024

Gene Therapy: A Revolutionary Step in Treating Thalassemia.

Hematology reports
2024

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

Cureus
2024

Differential gut microbiota composition in β-Thalassemia patients and its correlation with iron overload.

Scientific reports
2024

Characterization of a novel 8.2 kb deletion causing beta-thalassemia.

Clinical biochemistry
2024

Insulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1) in hematological diseases.

Molecular medicine (Cambridge, Mass.)
2024

Relationship between hemoglobinopathies and male infertility: a scoping review.

International journal of hematology
2024

Case report: A rare heterozygous Hb CS with heterozygous HbE in a family with thalassemia in China.

Heliyon
2024

Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.

Annals of hematology
2024

Systematic literature review of the indirect costs and humanistic burden of β-thalassemia.

Therapeutic advances in hematology
2024

Rhabdomyolysis in a Case of Mild Coronavirus Disease 2019 and β-Thalassemia Minor.

The Journal of the Association of Physicians of India
2024

In vivo silencing of intestinal DMT1 mitigates iron loading in β-thalassemia intermedia (Hbbth3/+) mice.

Blood advances
2024

ATG-Thymoglobulin Versus ATG-Fresenius for Conditioning in Thalassemia Patients Who Underwent Allogenic Stem Cell Transplantation from Matched-Sibling Donor: A Tertiary Cancer Care Center Short-Term Experience.

Hemoglobin
2024

Acute Pancreatitis in Individuals with Sickle Cell Disease: A Systematic Review.

Journal of clinical medicine
2024

Regulatory Assessment of Casgevy for the Treatment of Transfusion-Dependent β-Thalassemia and Sickle Cell Disease with Recurrent Vaso-Occlusive Crises.

Current issues in molecular biology
2024

Causes of Death and Mortality Trends in Individuals with Thalassemia in the United States, 1999-2020.

Journal of blood medicine
2024

Assessing NESTROFT as a preliminary screening tool for thalassemia in the Malayali tribes of Dharmapuri district, Tamil Nadu, India.

Journal of family medicine and primary care
2024

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

Children (Basel, Switzerland)
2024

A comprehensive review on the current status of CRISPR based clinical trials for rare diseases.

International journal of biological macromolecules
2024

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

Heliyon
2024

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

Asian journal of transfusion science
2024

Ovarian Tissue Cryopreservation for Fertility Preservation in Patients with Hemoglobin Disorders: A Comprehensive Review.

Journal of clinical medicine
2024

Appropriateness of the EQ-5D-5L in capturing health-related quality of life in individuals with transfusion-dependent β-thalassemia: a mixed methods study.

Health and quality of life outcomes
2024

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

Oman medical journal
2024

International Society for Cell & Gene Therapy Stem Cell Engineering Committee report on the current state of hematopoietic stem and progenitor cell-based genomic therapies and the challenges faced.

Cytotherapy
2024

Optimizing the management of inherited blood disorders in a changing market: Findings from the AMCP Market Insights Program.

Journal of managed care &amp; specialty pharmacy
2024

Hydroxyurea to prevent brain injury in children with sickle cell disease (HU Prevent)-A randomized, placebo-controlled phase II feasibility/pilot study.

American journal of hematology
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

[Overview of new approaches to β-thalassemia treatment].

Sheng li xue bao : [Acta physiologica Sinica]
2024

Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches.

Biomedicines
2024

A New Formula Based on Simple Blood Indices to Differentiate Beta Thalassemia Trait from Iron Deficiency Anemia.

Iranian journal of public health
2024

Exploring the perceptions and experiences of female's with ß-thalassemia major in a Tertiary Care Private Hospital in Pakistan.

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine
2024

Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.

Blood
2024

Systematic review and evidence gap assessment of the clinical, quality of life, and economic burden of alpha-thalassemia.

EJHaem
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

Therapeutic Relevance of Inducing Autophagy in β-Thalassemia.

Cells
2024

A moonlighting job for α-globin in blood vessels.

Blood
2024

Comparison of Yearly Cost Related to Complications Between Deferasirox and Deferiprone Monotherapy in Thalassemia.

Journal of pediatric hematology/oncology
2024

Liver disease in patients with transfusion-dependent β-thalassemia: The emerging role of metabolism dysfunction-associated steatotic liver disease.

World journal of hepatology
2024

Iron burden and endocrine complications in transfusion-dependent thalassemia patients In Sarawak, Malaysia: a retrospective study.

The Medical journal of Malaysia
2024

Application of short tandem repeats (STRs) in the preimplantation genetic diagnosis (PGD) of α-thalassemia.

Taiwanese journal of obstetrics &amp; gynecology
2024

Dual α-globin and truncated EPO receptor knockin restores hemoglobin production in α-thalassemia-derived red blood cells.

bioRxiv : the preprint server for biology
2024

Nutritional and Body Composition Changes in Paediatric β-Thalassemia Patients Undergoing Hematopoietic Stem Cell Transplantation: A Retrospective Study Using Bioelectrical Impedance Analysis.

Journal of multidisciplinary healthcare
2024

Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology.

International journal of molecular sciences
2024

Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications.

International journal of molecular sciences
2024

Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.

Frontiers in genetics
2025

Detection of CRISPR/Cas9-Mediated Fetal Hemoglobin Reactivation in Erythroblasts Derived from Cord Blood-Hematopoietic Stem Cells.

Molecular biotechnology
2024

Bone marrow Tfr2 deletion improves the therapeutic efficacy of the activin-receptor ligand trap RAP-536 in β-thalassemic mice.

American journal of hematology
2024

Good engraftment after reduced intensity targeted busulfan-based conditioning and matched related donor hematopoietic cell transplantation in hemoglobinopathies.

Pediatric blood &amp; cancer
2024

Survival and causes of death in patients with alpha and beta-thalassemia in Northern Thailand.

Annals of medicine
2024

Proportion of Hypogonadism in Transfusion-Dependent Thalassemia Patients and Its Contributing Factors.

Acta medica Indonesiana
2024

Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.

Scientific reports
2024

Health-Related Quality-of-Life Impacts Associated with Transfusion-Dependent β-Thalassemia in the USA and UK: A Qualitative Assessment.

The patient
2024

Spanish registry of hemoglobinopathies and rare anemias (REHem-AR): demographics, complications, and management of patients with β-thalassemia.

Annals of hematology
2024

Outcomes of Haematopoietic Stem Cell Transplantation in Beta Thalassemia Major with Fully Matched Parents as Donor.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2024

Compound heterozygosity for Southeast Asian hereditary persistence of fetal hemoglobin and β0-thalassemia results in thalassemia intermedia: Pedigree analysis and genetic research in a family from South China. A case report.

Medicine

Associações

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Comunidades

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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. Antioxidant Effects of CoQ10 in Transfusion-Dependent &#x3b2;-Thalassemia Major Patients: Implications for Ferroptosis-Related Pathways.
    Journal of blood medicine· 2026· PMID 41878153mais citado
  2. 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· 2026· PMID 41628927mais citado
  3. Nonclinical evaluation of renizgamglogene autogedtemcel for SCD and TDT.
    Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 40994008mais citado
  4. Elevated Fatty Acid Binding Protein 4 (FABP4) Associated With Liver Damage and Kidney Complications in Thalassemia Patients.
    BioMed research international· 2026· PMID 41869718mais citado
  5. Patient-Reported Outcomes With Luspatercept Through 5&#x2009;Years of Treatment in Patients With Non-Transfusion-Dependent &#x3b2;-Thalassemia Treated in the BEYOND Trial.
    European journal of haematology· 2026· PMID 41857682mais citado
  6. Nontrauma-Associated Cerebral Fat Embolism Syndrome in Sickle Cell-Related Hemoglobinopathies: A Case Series and Systematic Review.
    AJNR Am J Neuroradiol· 2025· PMID 40935661recente
  7. Evaluation of role of HPLC (Merits & Pitfalls), in the diagnosis of various hemoglobinopathies & thalassemic syndromes.
    Indian J Pathol Microbiol· 2021· PMID 34341263recente
  8. Diagnostic difficulty of beta-thalassemia syndrome in a multi-transfused patient: contribution of myelogram and studying parents.
    Ann Biol Clin (Paris)· 2017· PMID 28958966recente
  9. [Sickle cell syndrome. Association between hemoglobin S and β thalassemia].
    Medicina (B Aires)· 2016· PMID 27959846recente
  10. Etiopathological mechanisms and clinical characteristics of hyperhemolysis syndrome in Spanish patients with thalassemia.
    Ann Hematol· 2016· PMID 27392662recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:275749(Orphanet)
  2. MONDO:0017145(MONDO)
  3. Talassemia(PCDT · Ministério da Saúde)
  4. GARD:21023(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55786862(Wikidata)

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

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

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