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Talassemia beta intermédia
ORPHA:231222CID-10 · D56.1CID-11 · 3A50.2PCDT · SUSDOENÇA RARA

A beta-talassemia (BT) intermediária é uma forma de BT caracterizada por anemia leve a moderada que não requer ou apenas ocasionalmente requer transfusão.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A beta-talassemia (BT) intermediária é uma forma de BT caracterizada por anemia leve a moderada que não requer ou apenas ocasionalmente requer transfusão.

Pesquisas ativas
30 ensaios
308 total registrados no ClinicalTrials.gov
Publicações científicas
611 artigos
Último publicado: 1993
Medicamentos
3 registrados
HYDROXYUREA, SOTATERCEPT, SAPABLURSEN

Tem tratamento?

3 medicamentos registrados
Ver detalhes, fases e interações →
HYDROXYUREASOTATERCEPTSAPABLURSEN

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
Childhood
🏥
SUS: Cobertura parcialScore: 45%
PCDT disponível1 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
8 sintomas
🦴
Ossos e articulações
5 sintomas
📏
Crescimento
4 sintomas
🫘
Rins
2 sintomas
❤️
Coração
2 sintomas
🩸
Sangue
2 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

90%prev.
Osteoporose
Muito frequente (99-80%)
90%prev.
Persistência de hemoglobina F
Muito frequente (99-80%)
90%prev.
Volume corpuscular médio diminuído
Muito frequente (99-80%)
90%prev.
Anemia por produção inadequada
Muito frequente (99-80%)
55%prev.
Hiperplasia eritroide
Frequente (79-30%)
55%prev.
Aumento da suscetibilidade a fraturas
Frequente (79-30%)
36sintomas
Muito frequente (4)
Frequente (11)
Ocasional (13)
Muito raro (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.

OsteoporoseOsteoporosis
Muito frequente (99-80%)90%
Persistência de hemoglobina FPersistence of hemoglobin F
Muito frequente (99-80%)90%
Volume corpuscular médio diminuídoDecreased mean corpuscular volume
Muito frequente (99-80%)90%
Anemia por produção inadequadaAnemia of inadequate production
Muito frequente (99-80%)90%
Hiperplasia eritroideErythroid hyperplasia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico611PubMed
Últimos 10 anos200publicações
Pico201725 papers
Linha do tempo
2026Hoje · 2026🧪 1978Primeiro ensaio clínico📈 2017Ano 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
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

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

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 13 variantes classificadas pelo ClinVar.

13
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
HBB: NM_000518.5(HBB):c.-77_-76del [Conflicting classifications of pathogenicity]
LOC110006319: NM_000518.5(HBB):c.*6C>G [Pathogenic/Likely pathogenic]
HBB: NM_000518.5(HBB):c.93-3T>G [Pathogenic/Likely pathogenic]
HBB: NM_000518.5(HBB):c.-137C>T [Pathogenic/Likely pathogenic]
LOC106099062: NM_000518.5(HBB):c.-137C>A [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 33
2Fase 210
1Fase 13
·Pré-clínico7
Medicamentos catalogadosEnsaios clínicos· 3 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Talassemia beta intermédia

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

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

NCT03937817 · Collection of Human Biospecimens for Basic and Clinical Rese…Recrutando
NCT06364774 · ALS20-101 Lentiviral Gene Therapy for Beta ThalassemiaRecrutando
PHASE1, PHASE2
NCT05736419 · A Study of Immune Suppression Treatment for People With Sick…Recrutando
PHASE2
NCT05477563 · Evaluation of Efficacy and Safety of a Single Dose of CTX001…Recrutando
PHASE3
NCT06421636 · A Study to Test the Safety, Tolerability, and Efficacy of an…Recrutando
PHASE2
NCT05508932 · Atrial Fibrillation in Beta-ThalassemiaRecrutando
NCT07215975 · A Real-World Study to Evaluate Luspatercept in Adults With T…Recrutando
NCT06931912 · Growth Evaluation, Health Promotion, and Clinical Management…Recrutando
NA
NCT05904093 · Study to Evaluate the Safety and Tolerability of Escalating …Recrutando
PHASE1
NCT06647979 · Hematopoietic Stem Cell BCL11A Enhancer Gene Editing for Sev…Recrutando
PHASE1
NCT04143724 · Study of Safety & PK of Luspatercept (ACE-536) in Pediatric …Recrutando
PHASE2
NCT07292259 · Combination of Thalidomide and Hydroxyuria in Transfusion De…Recrutando
PHASE2
NCT06308159 · An Open-label Study of a Gene Therapy Product (Vebeglogene A…Recrutando
PHASE1, PHASE2
NCT04064060 · A Study to Evaluate Long-term Safety in Participants Who Hav…Recrutando
PHASE3
NCT04208529 · A Long-term Follow-up Study in Participants Who Received CTX…Por convite
PHASE3
NCT06328764 · CS-101 in Patients With β-thalassemiaPor convite
EARLY_PHASE1
NCT06717932 · A Follow-up Study to Evaluate the Long-term Safety and Effic…Por convite
NCT06685536 · A Long-term Follow-up Study in Participants Who Received CS-…Por convite
NCT05577312 · Safety and Efficacy Evaluation of BRL-101 in Subjects With T…Por convite
PHASE1, PHASE2
NCT07055503 · Use of the Hemanext One® Hypoxic Red Blood Cell Storage Syst…Por convite

Outros ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
240 papers (10 anos)
#1

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

Annals of hematology2026 Feb 04

β-thalassemia is an inherited blood disorder with long-term associated complications. The purpose of this study was to evaluate the clinical significance of the lncRNA-HBBP1 and lncRNA-XIST expression profiles in the diagnosis of β-thalassemia patients. One hundred children patients with β-thalassemia participated in this case-control study: 50 patients diagnosed as Beta Thalassemia Major (β-TM) and 50 patients diagnosed as Beta Thalassemia Intermedia (β-TI) groups. Furthermore, there were 50 children as healthy control group. Assessment of both genes' expression was performed by RT-qPCR. The findings displayed that both lncRNA-HBBP1 and lncRNA-XIST were highly expressed within the β-TM group than in the β-TI and the control groups (P < 0.001 for both). The lncRNA-HBBP1 and lncRNA-XIST expression were significantly higher in β-thalassemia patients presented with jaundice, thalassemia facies, or organomegaly (p < 0.001 for all). In addition, lncRNA-XIST expression was significantly higher in β-thalassemia patients with splenectomy (p = 0.002). Spearman correlation revealed that the expression of both genes was significantly correlated with HbF % in β-TM and β-TI groups (p < 0.001 for both). Based on the ROC curve analysis, the sensitivity of lncRNA-HBBP1 and lncRNA-XIST for discriminating the β-TM group from the β-TI group was 82% and 80%, respectively. Collectively, the examined lncRNAs could offer novel biomarkers for β-thalassemia disorder once confirmed in extensive upcoming investigations.

#2

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 research2025 Apr 01

Background: Hemoglobinopathies present a growing challenge to global healthcare resources. These disorders are monogenic: caused by a single gene, and they are inherited in an autosomal recessive manner from parents to offspring. Thalassemia and Sickle Cell Disease are the primary forms of Hemoglobinopathies. India has the highest prevalence of children affected by Thalassemia globally, with a population of 1-1.5 lakh children with Thalassemia, and every year, around 10,000-15,000 babies are born with this condition. This study attempted to estimate the disease burden of Beta-Hemoglobinopathies among the selected tribes residing in Dharmapuri, Tamil Nadu, India. Materials and Methods: This cross-sectional study includes the data from 62 study participants belonging to the tribes residing in Sitteri hills and Balajangamanahalli - a village in the plains of Nallampalli, Dharmapuri. A semi-structured questionnaire was administered to collect socio-demographic details, and 5 ml of blood was collected for hematological tests: Complete Blood Count (CBC), Peripheral Smear, and High-Performance Liquid Chromatography (HPLC). Results: Out of the 62 study participants, 43% (n=27) were anemic. Chi-square test of association revealed significant associations between Gender and Anemia, Mentzer's Index and Anemia, and Mentzer's Index and HbA2. The present study has reported the disease burden of Beta-Hemoglobinopathies to be 37.1%, in which beta-thalassemia trait/minor was 24.19%, sickle cell beta-thalassemia, beta-thalassemia intermedia, beta-thalassemia major/intermedia, and sickle cell disease were 3.23% each. Conclusion: Family screening may be conducted to clarify the inheritance patterns of the disease, and genetic counseling should be offered to at-risk couples. To confirm the prevalence of hemoglobinopathies, genetic studies are required to confirm the type of mutations that cause Hemoglobinopathies.

#3

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 diseases2025 Apr 02

Thalassemia is one of the most prevalent monogenic disorders in tropical and subtropical regions, imposing significant familial and social burdens on local populations. It is caused by point mutations or structural variations (SVs) in the α- or β-globin gene clusters. Due to the complex structure, full characterization of SVs has always been the focus and difficulty of molecular diagnosis of thalassemia patients. Peripheral blood of a Chinese boy with β-thalassemia intermedia phenotype and his family members were collected. Multiplex ligation dependent probe amplification (MLPA), long-read sequencing (LRS) and Sanger sequencing were used to analyze the variant in this family. A novel large duplication (αααα280) was identified using LRS technique and validated by Sanger sequencing. Additionally, we conducted a systematic review of known SVs and evaluated the advantages and disadvantages of various methods in analyzing complex SVs. Our study identified a novel SV in the α-globin gene cluster and demonstrated that LRS was a superior approach for detecting novel rare SVs. The appropriate use of LRS significantly improves diagnostic accuracy when conventional methods are not capable of completely identifying complex SVs.

#4

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 sciences2025 Feb 13

β-thalassemia, a hereditary hemoglobinopathy, is caused by reduced or absent synthesis of the β-globin chains of hemoglobin. Three clinical conditions are recognized: β-thalassemia major, β-thalassemia intermedia, and β-thalassemia minor (β-Thal+). This latter condition occurs when an individual inherits a mutated β-globin gene from one parent. In erythrocytes from β-Thal+ subjects, the excess α-globin chains produce unstable α-tetramers, which can induce substantial oxidative stress leading to plasma membrane and cytoskeleton damage, as well as deranged cellular function. In the present study, we hypothesized that increased oxidative stress might lead to structural rearrangements in erythrocytes from β-Thal+ volunteers and functional alterations of ion transport proteins, including band 3 protein. The data obtained showed significant modifications of the cellular shape in erythrocytes from β-Thal+ subjects. In particular, a significantly increased number of elliptocytes was observed. Interestingly, iron overload, detected in erythrocytes from β-Thal+ subjects, provoked a significant production of reactive oxygen species (ROS), overactivation of the endogenous antioxidant enzymes catalase and superoxide dismutase, and glutathione depletion, resulting in (a) increased lipid peroxidation, (b) protein sulfhydryl group (-SH) oxidation. Iron overload-related oxidative stress affected Na+/K+-ATPase activity, which in turn may have contributed to impaired β-Thal+ erythrocyte deformability. As a result, alterations in the distribution of cytoskeletal proteins, including α/β-spectrin, protein 4.1, and α-actin, in erythrocytes from β-Thal+ subjects have been detected. Significantly, oxidative stress was also associated with increased phosphorylation and altered band 3 ion transport activity, as well as increased oxidized hemoglobin, which led to abnormal clustering and redistribution of band 3 on the plasma membrane. Taken together, these findings contribute to elucidating potential oxidative stress-related perturbations of ion transporters and associated cytoskeletal proteins, which may affect erythrocyte and systemic homeostasis in β-Thal+ subjects.

#5

Predictors of Delayed Hemolytic Transfusion Reactions in Children With Beta-Thalassemia Intermedia: Insight From a Tunisian Reference-Center Analysis.

Pediatric blood &amp; cancer2025 Nov

Publicações recentes

Ver todas no PubMed

📚 EuropePMC165 artigos no totalmostrando 199

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

Unraveling the link: Beta-thalassemia intermedia and Moyamoya syndrome-a hidden connection.

Oxford medical case reports
2025

Hemoglobin Dieppe (HBB:c. 383A > G): A Rare Dominant β-Thalassemia in an Iraqi Kurdish Family.

Hemoglobin
2025

Novel HBB:c.375_376delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report.

Medicine
2025

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

The Indian journal of medical research
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

Predictors of Delayed Hemolytic Transfusion Reactions in Children With Beta-Thalassemia Intermedia: Insight From a Tunisian Reference-Center Analysis.

Pediatric blood &amp; cancer
2025

Therapeutic Response to Hydroxyurea in Beta-Thalassemia Intermedia with Rare Mutation: A Case Report.

Hemoglobin
2025

Neurotherapy as a Complementary Approach for Beta-Thalassemia Intermedia.

Nigerian medical journal : journal of the Nigeria Medical Association
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

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

Effective non-surgical management of spinal cord compression from extra-medullary hematopoiesis with radiotherapy in thalassemia intermedia: a case report.

Oxford medical case reports
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

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

Hemoglobin
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

Hemolysis due to anti-IH in a patient with beta-thalassemia and Mycoplasma pneumoniae infection.

Immunohematology
2024

A case of intrathoracic extramedullary hematopoiesis-associated pleural effusion in a beta-thalassemia intermedia patient and a short literature review.

SAGE open medical case reports
2024

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

Lipids in health and disease
2024

Efficacy and safety of thalidomide in patients with β-thalassemia intermedia and major.

Medicine
2024

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

Cureus
2024

Acute disseminated encephalomyelitis (ADEM) in a patient with post streptococcal glomerulonephritis (PSGN): A case report.

Clinical case reports
2025

Early Detection of Myocardial Involvement in Thalassemia Intermedia Patients: Multiparametric Mapping by Magnetic Resonance Imaging.

Journal of magnetic resonance imaging : JMRI
2024

Integrated metabolomic and microbiome analysis identifies Cupriavidus metallidurans as a potential therapeutic target for β-thalassemia.

Annals of hematology
2024

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

Blood advances
2025

Safety and efficacy of human apotransferrin infusion in patients with β-thalassemia intermedia: the AIM study.

Haematologica
2024

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.

International journal of molecular sciences
2024

Characterization and Clinical Assessment of a Peculiar Case of Hemolytic Anemia.

Journal of hematology
2024

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

Blood
2024

Mitoxantrone ameliorates ineffective erythropoiesis in a β-thalassemia intermedia mouse model.

Blood advances
2024

Moderate-severe beta-thalassemia intermedia phenotype caused by sextuplicated alpha-globin gene allele in two beta-thalassemia carriers.

American journal of hematology
2024

A Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient.

Hemoglobin
2024

Impact of genotype on multi-organ iron and complications in patients with non-transfusion-dependent β-thalassemia intermedia.

Annals of hematology
2024

Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.

Biomedicines
2024

An update on recent studies of extracellular vesicles and their role in hypercoagulability in thalassemia (Review).

Biomedical reports
2024

Suppression of Growth Differentiation Factor 15 Gene Expression by Curcumin in Patients with Beta-Thalassemia Intermedia.

Clinical laboratory
2023

Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.

Human genomics
2023

Phenotypic Clustering of Beta-Thalassemia Intermedia Patients Using Cardiovascular Magnetic Resonance.

Journal of clinical medicine
2023

Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab.

Pakistan journal of medical sciences
2023

Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes.

European journal of haematology
2023

Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype.

Journal of molecular medicine (Berlin, Germany)
2023

Rare Presentation of β-Thalassemia Intermedia With a Phenotype of Dilated Cardiomyopathy.

CJC open
2023

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.

American journal of hematology
2023

Dominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.

Pediatric blood &amp; cancer
2023

An Expert Overview on Therapies in Non-Transfusion-Dependent Thalassemia: Classical to Cutting Edge in Treatment.

Hemoglobin
2023

Bone Mineral Density and Dickkopf-1 in Adolescents with Non-Deletional Hemoglobin H Disease.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry
2023

Potent, Gut-Restricted Inhibitors of Divalent Metal Transporter 1: Preclinical Efficacy against Iron Overload and Safety Evaluation.

The Journal of pharmacology and experimental therapeutics
2023

Mitapivat for sickle cell disease and thalassemia.

Drugs of today (Barcelona, Spain : 1998)
2023

Differential proteomic patterns of plasma extracellular vesicles show potential to discriminate β-thalassemia subtypes.

iScience
2023

β-thalassemia intermedia mimicking β-thalassemia trait: The importance of family studies and HBB genotyping in phenotypically ambiguous cases.

International journal of laboratory hematology
2023

β-Thalassemia in childhood: Current state of health in a high-income country.

British journal of haematology
2022

Protein C and S levels in patients with Thalassemia intermedia.

Journal of medicine and life
2023

Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review.

Molecular genetics and genomics : MGG
2023

Regulation of iron homeostasis by hepatocyte TfR1 requires HFE and contributes to hepcidin suppression in β-thalassemia.

Blood
2022

Non-Transfusion-Dependent Thalassemia: A Panoramic Review.

Medicina (Kaunas, Lithuania)
2022

Renal Dysfunction in Pediatric Patients in Iraq With β-Thalassemia Major and Intermedia.

Cureus
2022

The hemoglobinopathies, molecular disease mechanisms and diagnostics.

International journal of laboratory hematology
2022

β-Thalassemia Intermedia Caused by the β-Globin Gene 3' Untranslated Region: Another Case Report.

Hemoglobin
2022

The Effect of Xmn -1 Polymorphism and Coinheritance of Alpha Mutations on Age at First Blood Transfusion in Iranian Patients with Homozygote IVSI-5 Mutation.

International journal of hematology-oncology and stem cell research
2022

Impact of IFN-β1a in treatment of a COVID-19 patient with beta thalassemia and diabetes mellitus: A case report.

Clinical case reports
2022

Intraoperative Cell-Saver Caused More Autologous Salvage Hemolysis in a Hereditary Spherocytosis Patient Than in a Normal Erythrocyte Patient.

Frontiers in physiology
2021

Alpha-globin gene triplication and its effect in beta-thalassemia carrier, sickle cell trait, and healthy individual.

EJHaem
2022

Stroke propensity in the Th3+/ mouse model of β-thalassemia intermedia.

Neurobiology of disease
2022

Dual gradient echo in-phase and out of phase sequences in assessment of hepatic iron overload in patients with beta-thalassemia, would be better?

European journal of radiology
2022

Bone mineral density in primarily preadolescent children with hemoglobin E/β-thalassemia with different severities and transfusion requirements.

Pediatric blood &amp; cancer
2022

Efficacy and Safety of Sinopharm Vaccine for SARS-CoV-2 and breakthrough infections in Iranian Patients with Hemoglobinopathies: A Preliminary Report.

Mediterranean journal of hematology and infectious diseases
2022

β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain.

Frontiers in medicine
2022

Iron overload status in patients with non-transfusion-dependent thalassemia in China.

Therapeutic advances in hematology
2022

Alpha- and Beta-thalassemia: Rapid Evidence Review.

American family physician
2022

The Effect of Curcumin on Iron Overload in Patients with Beta-Thalassemia Intermedia.

Clinical laboratory
2022

Therapeutic potential of silymarin as a natural iron-chelating agent in β-thalassemia intermedia.

Clinical case reports
2021

Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report.

Hemoglobin
2021

Murine models of sickle cell disease and beta-thalassemia demonstrate pulmonary hypertension with distinctive features.

Pulmonary circulation
2021

Pitfalls in the Diagnosis of β-Thalassemia Intermedia.

Hemoglobin
2021

Subclinical atherosclerotic predictive value of inflammatory markers in thalassemia intermedia patients.

Expert review of hematology
2021

Digital thermography and vascular involvement in β-thalassemia intermedia.

Annals of hematology
2021

Beta-thalassemia intermedia with ischemic transients misdiagnosed as multiple sclerosis: A case report.

Current journal of neurology
2021

Modulatory effect of single nucleotide polymorphism in Xmn1, BCL11A and HBS1L-MYB loci on foetal haemoglobin levels in β-thalassemia major and Intermedia patients.

JPMA. The Journal of the Pakistan Medical Association
2021

Development of the Quality of Life Questionnaire (SF-36) for Patients with β-Thalassemia Major and β-Thalassemia Intermedia Based on Extended Rasch Analysis.

Hemoglobin
2021

Compound heterozygotes of Hb Constant Spring and Hb Stanleyville II in HbE/β0-thalassemia.

Clinical chemistry and laboratory medicine
2022

Spontaneous osteonecrosis of the jaw in a β-Thalassemia intermedia patient.

Journal of stomatology, oral and maxillofacial surgery
2021

Oxidative status in the β-thalassemia syndromes in Sri Lanka; a cross-sectional survey.

Free radical biology &amp; medicine
2021

Chronic Hemolysis May Adversely Affect Skeletal Health. A Cross-Sectional Study of a Pediatric Population.

Hemoglobin
2021

A rare gene variation cap +1 (A>C) (HBB: c. -50A>C) associated with codon 5 (-CT) (HBB: c.17_18delCT) mutation in Syrian family.

Molecular genetics &amp; genomic medicine
2020

Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report.

Cureus
2021

The effect of curcumin on serum copper, zinc, and zinc/copper ratio in patients with β-thalassemia intermedia: a randomized double-blind clinical trial.

Annals of hematology
2020

Prominent pseudo-Gaucher cells in a patient with β-thalassemia intermedia and plasma cell myeloma.

Blood
2020

The relation between mitogen activated protein kinase (MAPK) pathway and different genes expression in patients with beta Thalassemia.

Biochemistry and biophysics reports
2021

Global loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model.

American journal of hematology
2020

Evaluation of Adipokines Concentration in Iraqi Patients with Major and Minor Beta Thalassemia.

Reports of biochemistry &amp; molecular biology
2020

Acute lymphoblastic leukemia in a β-thalassemia intermedia child: A case report.

World journal of clinical pediatrics
2020

Phenotypical and functional abnormalities of circulating neutrophils in patients with β-thalassemia.

Annals of hematology
2020

Corrigendum to "Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq".

BioMed research international
2020

Preliminary Data on COVID-19 in Patients with Hemoglobinopathies: A Multicentre ICET-A Study.

Mediterranean journal of hematology and infectious diseases
2020

Association of VDBP rs4701 Variant, but not VDR/RXR-α Over-Expression with Bone Mineral Density in Pediatric Well-Chelated β-Thalassemia Patients.

Mediterranean journal of hematology and infectious diseases
2020

Correcting β-thalassemia by combined therapies that restrict iron and modulate erythropoietin activity.

Blood
2020

miR-30a regulates γ-globin expression in erythoid precursors of intermedia thalassemia through targeting BCL11A.

Molecular biology reports
2020

Assessment of Atherosclerosis in Peripheral and Central Circulation in Adult β Thalassemia Intermedia Patients by Color Doppler Ultrasound: Egyptian Experience.

Journal of vascular research
2020

Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq.

BioMed research international
2020

Three Mexican Families with β thalassemia intermedia with different molecular basis.

Genetics and molecular biology
2020

Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China.

BMC medical genetics
2020

Two Rare Pathogenic HBB Variants in a Patient with β-Thalassemia Intermedia.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2020

Association between Different Polymorphic Markers and β-Thalassemia Intermedia in Central Iran.

Hemoglobin
2020

Evaluation of endocrine complications in beta-thalassemia intermedia (β-TI): a cross-sectional multicenter study.

Endocrine
2020

Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia.

Blood cells, molecules &amp; diseases
2021

A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family.

Hemoglobin
2020

Evaluating viscoelastic properties and membrane electrical charges of red blood cells with optical tweezers and cationic quantum dots - applications to β-thalassemia intermedia hemoglobinopathy.

Colloids and surfaces. B, Biointerfaces
2020

Oral ferroportin inhibitor VIT-2763: First-in-human, phase 1 study in healthy volunteers.

American journal of hematology
2019

Oral ferroportin inhibitor ameliorates ineffective erythropoiesis in a model of β-thalassemia.

The Journal of clinical investigation
2020

Generation of an in vitro model of β-thalassemia using the CRISPR/Cas9 genome editing system.

Journal of cellular biochemistry
2019

Rare double heterozygosity for poly A(A〉 G) and CD17(A〉 T) of beta thalassemia intermedia in a Chinese family.

Hematology reports
2019

Heme-regulated eIF2α kinase in erythropoiesis and hemoglobinopathies.

Blood
2019

A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child.

Hemoglobin
2019

Predictors of autoimmune hemolytic anemia in beta-thalassemia patients with underlying red blood cells autoantibodies.

Blood cells, molecules &amp; diseases
2019

Mahidol Scoring for Assessing Various Grades of β Thalassemia Intermedia.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2019

Final Height and Endocrine Complications in Patients with β-Thalassemia Intermedia: Our Experience in Non-Transfused Versus Infrequently Transfused Patients and Correlations with Liver Iron Content.

Mediterranean journal of hematology and infectious diseases
2019

A Case of Hereditary Spherocytosis Caused by a Novel Homozygous Mutation in the SPTB Gene Misdiagnosed as β-Thalassemia Intermedia Due to a KLF1 Gene Mutation.

Hemoglobin
2019

Prevalence of abnormal glucose homeostasis in Chinese patients with non-transfusion-dependent thalassemia.

Diabetes, metabolic syndrome and obesity : targets and therapy
2019

Activin-A is elevated in patients with thalassemia major and double heterozygous sickle cell/beta-thalassemia and correlates with markers of hemolysis and bone mineral density.

Annals of hematology
2019

Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort Study.

Hemoglobin
2019

Crosstalk between cytokine profile, redox, and iron status in β-Thalassemia: relation to frequency/duration of blood transfusion.

Pediatric hematology and oncology
2019

[Significance of Tissue Factor-Bearing Microparticle Procoagulation Activity and Antithrombin Ⅲ Detection in Thalassemia Patients].

Zhongguo shi yan xue ye xue za zhi
2019

The impact of illness perception and socio-clinico-demographic factors on perceived quality of life in children and adolescents with thalassemia intermedia.

Pediatric blood &amp; cancer
2019

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

BMC hematology
2019

Genetic loss of Tmprss6 alters terminal erythroid differentiation in a mouse model of β-thalassemia intermedia.

Haematologica
2019

Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.

BMC pediatrics
2019

Krüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia.

Hemoglobin
2019

Imbalance of erythropoiesis and iron metabolism in patients with thalassemia.

International journal of medical sciences
2019

Vascular and hemostatic alterations associated with pulmonary hypertension in β-thalassemia hemoglobin E patients receiving regular transfusion and iron chelation.

Thrombosis research
2018

Global analysis of erythroid cells redox status reveals the involvement of Prdx1 and Prdx2 in the severity of beta thalassemia.

PloS one
2019

Validation of a patient-reported outcomes symptom measure for patients with nontransfusion-dependent thalassemia (NTDT-PRO© ).

American journal of hematology
2018

Alterations of anticoagulant proteins and soluble endothelial protein C receptor in thalassemia patients of Chinese origin.

Thrombosis research
2018

The survival rate of patients with beta-thalassemia major and intermedia and its trends in recent years in Iran.

Epidemiology and health
2019

Retrospective study of the incidence of portal vein thrombosis after splenectomy in hematological disorders: Risk factors and clinical presentation.

Blood cells, molecules &amp; diseases
2018

Compound Heterozygosity for Silent Cap +1570 (T>C) (HBB: c*96T>C), Codon 39 (C>T) (HBB: c.118C>T) and the Presence of αααanti-3.7/αα in Greece. A Case Presentation.

Hemoglobin
2018

Efficacy and safety of resveratrol, an oral hemoglobin F-augmenting agent, in patients with beta-thalassemia intermedia.

Annals of hematology
2021

First Report of β-Thalassemia Intermedia in a Patient Compound Heterozygous for -92 (C>T) and Codons 36/37 (-T) Mutations.

Hemoglobin
2018

Deferoxamine-induced electronegative ERG responses.

Documenta ophthalmologica. Advances in ophthalmology
2018

Relationship of the Interaction Between Two Quantitative Trait Loci with γ-Globin Expression in β-Thalassemia Intermedia Patients.

Hemoglobin
2018

Genotype-phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis.

Journal of blood medicine
2018

Management of Children With β-Thalassemia Intermedia: Overview, Recent Advances, and Treatment Challenges.

Journal of pediatric hematology/oncology
2017

Partial Splenectomy in the treatment of an adult with β thalassemia intermedia: A case report.

International journal of surgery case reports
2018

RNAi-mediated reduction of hepatic Tmprss6 diminishes anemia and secondary iron overload in a splenectomized mouse model of β-thalassemia intermedia.

American journal of hematology
2018

Hepatocellular Carcinoma in a β-Thalassemia Intermedia Patient: Yet Another Case in the Expanding Epidemic.

Hemoglobin
2018

Optimal Reference Gene Selection for Expression Studies in Human Reticulocytes.

The Journal of molecular diagnostics : JMD
2018

Elevations of Thrombotic Biomarkers in Hemoglobin H Disease.

Acta haematologica
2018

β-Thalassemia intermedia: a comprehensive overview and novel approaches.

International journal of hematology
2018

A prospective analysis for prevalence of complications in Thai nontransfusion-dependent Hb E/β-thalassemia and α-thalassemia (Hb H disease).

American journal of hematology
2017

Thalassemia Major and Intermedia in Patients Older than 35 Years: A Single Center Experience.

The Israel Medical Association journal : IMAJ
2018

Inhibition of heme oxygenase ameliorates anemia and reduces iron overload in a β-thalassemia mouse model.

Blood
2018

Blood transfusion versus hydroxyurea in beta-thalassemia in Iran: a cost-effectiveness study.

Hematology (Amsterdam, Netherlands)
2018

Short-term administration of JAK2 inhibitors reduces splenomegaly in mouse models of β-thalassemia intermedia and major.

Haematologica
2017

The Impact of Transfusion and Chelation on Oxidative Stress in Immigrant Syrian Children with β-Thalassemia.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2018

Prevalence of low bone mass among adolescents with nontransfusion-dependent hemoglobin E/β-thalassemia and its relationship with anemia severity.

Pediatric blood &amp; cancer
2017

Comparison of Quality of Life in Patients with β-Thalassemia Intermedia and β-Thalassemia Major in Southern Iran.

Hemoglobin
2017

Evaluation of the Clinical and Laboratory Characteristics of Previously Followed-up Thalassemia Intermedia Patients to Provide Them Better Care in the Future.

Journal of pediatric hematology/oncology
2017

Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (-T)] mutation of beta globin gene and HPFH3.

Clinical case reports
2017

Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.

Cold Spring Harbor molecular case studies
2017

Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study.

British journal of haematology
2017

Serum Hepcidin as a Diagnostic Marker of Severe Iron Overload in Beta-thalassemia Major.

Indian journal of pediatrics
2017

Homozygous Mutation on the β-Globin Polyadenylation Signal in a Tunisian Patient with β-Thalassemia Intermedia and Coinheritance of Gilbert's Syndrome.

Hemoglobin
2017

Revisiting beta thalassemia intermedia: past, present, and future prospects.

Hematology (Amsterdam, Netherlands)
2017

Papillary Fibroelastoma as a Cause of Cardiogenic Embolic Stroke in a β-Thalassemia Patient: Case Report and Literature Review.

Case reports in cardiology
2017

Hydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis.

Hematology/oncology and stem cell therapy
2017

A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant.

Hemoglobin
2017

Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β0-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia.

Hemoglobin
2016

Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients.

Hemoglobin
2017

Bone quality in beta-thalassemia intermedia: relationships with bone quantity and endocrine and hematologic variables.

Annals of hematology
2017

Soluble fms-Like Tyrosine Kinase 1 as a Link Between Angiogenesis and Endothelial Dysfunction in Pediatric Patients With β-Thalassemia Intermedia.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2017

Pregnancy in β-thalassemia intermedia at two tertiary care centers in Lebanon and Italy: A follow-up report on fetal and maternal outcomes.

American journal of hematology
2017

Liver transplantation from a deceased donor with β-thalassemia intermedia is not contraindicated: A case report.

Pediatric transplantation
2017

The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients.

Blood cells, molecules &amp; diseases
2017

Relationship Between Some Single-nucleotide Polymorphism and Response to Hydroxyurea Therapy in Iranian Patients With β-Thalassemia Intermedia.

Journal of pediatric hematology/oncology
2017

Klf10 Gene, a Secondary Modifier and a Pharmacogenomic Biomarker of Hydroxyurea Treatment Among Patients With Hemoglobinopathies.

Journal of pediatric hematology/oncology
2017

Excellent and durable response to radiotherapy in a rare case of spinal cord compression due to extra-medullary hematopoiesis in β-thalassemia intermedia: case report and clinicoradiological correlation.

Annals of palliative medicine
2017

EPO and hepcidin plasma concentrations in blood donors and β-thalassemia intermedia are not related to commercially tested plasma ERFE concentrations.

American journal of hematology
2016

Clinical and biological specificity of beta-thalassemia intermedia: a case report.

Annales de biologie clinique
2016

First description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients.

Hemoglobin
2016

A Patient with β-Thalassemia Intermedia Secondary to Homozygosity for a Polyadenylation Signal Mutation (AATAAA > AATAGA) (HBB: C.*112A > G) on the β-Globin Gene.

Hemoglobin
2016

A Comparison of Hemostatic Changes in Splenectomized and Nonsplenectomized β-Thalassemia Intermedia Patients.

Journal of pediatric hematology/oncology
2016

Can mutations in the gene encoding transcription factor EKLF (Erythroid Krüppel-Like Factor) protect us against infectious and parasitic diseases?

Postepy higieny i medycyny doswiadczalnej (Online)
2016

A case report of extramedullary haematopoeisis in lumbosacral region presenting as cauda equina syndrome.

International journal of spine surgery
2017

A comparison of heart function and arrhythmia in clinically asymptomatic patients with beta thalassemia intermedia and beta thalassemia major.

Hematology (Amsterdam, Netherlands)
2016

CLINICAL APPLICATION OF RECOMBINANT ERYTHROPOIETIN IN BETA-THALASSAEMIA INTERMEDIA.

Georgian medical news
2016

Can hydroxyurea serve as a free radical scavenger and reduce iron overload in β-thalassemia patients?

Free radical research
2016

Study of red blood cell alloimmunization risk factors in multiply transfused thalassemia patients: role in improving thalassemia transfusion practice in Fayoum, Egypt.

Transfusion
2016

High incidence of silent cerebral infarcts in adult patients with beta thalassemia major.

Thrombosis research
2016

Evaluation of bone mineral density in patients with hemoglobin H disease.

Annals of hematology
2016

Evaluation of the Relationship Between Hb F Levels and Nucleated Red Blood Cells with Morbidity in Non Transfusion-Dependent Thalassemia Patients.

Hemoglobin
2016

Molecular Characterization of β-Thalassemia Intermedia in Southeast Iran.

Hemoglobin
2016

Cardiac and thrombotic complications in the peripartum period of a patient affected by beta-thalassemia intermedia: An unusual case.

International journal of cardiology
2016

Pulmonary hypertension associated with thalassemia syndromes.

Annals of the New York Academy of Sciences
2016

Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families.

Molecular genetics and genomics : MGG
2016

Risk factors for venous thromboembolism in adults with hemoglobin SC or Sβ(+) thalassemia genotypes.

Thrombosis research
2016

[Screening and molecular diagnosis for a rare genotype of beta-thalassemia intermedia].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2015

A Large Cohort Study of Genotype and Phenotype Correlations of Beta- Thalassemia in Iranian Population.

International journal of hematology-oncology and stem cell research
2016

Real-life experience with liver iron concentration R2 MRI measurement in patients with hemoglobinopathies: baseline data from LICNET.

European journal of haematology
2016

"Silent" β-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A2.

The Turkish journal of pediatrics
2015

Sensorineural hearing loss in β-thalassemia patients treated with iron chelation.

Ear, nose, &amp; throat journal

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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. The impact of the expression signatures of LncRNAs HBBP1 and XIST on the diagnostic significance of patients with &#x3b2;-Thalassemia.
    Annals of hematology· 2026· PMID 41634383mais citado
  2. 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· PMID 40852697mais citado
  3. 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· PMID 40176065mais citado
  4. Iron Overload-Related Oxidative Stress Leads to Hyperphosphorylation and Altered Anion Exchanger 1 (Band 3) Function in Erythrocytes from Subjects with &#x3b2;-Thalassemia Minor.
    International journal of molecular sciences· 2025· PMID 40004059mais citado
  5. Predictors of Delayed Hemolytic Transfusion Reactions in Children With Beta-Thalassemia Intermedia: Insight From a Tunisian Reference-Center Analysis.
    Pediatric blood &amp; cancer· 2025· PMID 40827020mais citado
  6. Beta-Thalassemia.
    · 1993· PMID 20301599recente
  7. Unraveling the link: Beta-thalassemia intermedia and Moyamoya syndrome-a hidden connection.
    Oxf Med Case Reports· 2025· PMID 41132404recente
  8. Hemoglobin Dieppe (HBB:c. 383A > G): A Rare Dominant β-Thalassemia in an Iraqi Kurdish Family.
    Hemoglobin· 2025· PMID 41047278recente
  9. Novel HBB:c.375_376delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report.
    Medicine (Baltimore)· 2025· PMID 41029085recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:231222(Orphanet)
  2. MONDO:0016487(MONDO)
  3. Talassemia(PCDT · Ministério da Saúde)
  4. GARD:17163(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q56013834(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

Talassemia beta intermédia
Compêndio · Raras BR

Talassemia beta intermédia

ORPHA:231222 · MONDO:0016487
🇧🇷 Brasil SUS
CEAF
1AMitapivate
Geral
Prevalência
Unknown
Herança
Autosomal recessive
CID-10
D56.1 · Talassemia beta
CID-11
Ensaios
30 ativos
Medicamentos
3 registrados
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0472767
Repurposing
2 candidatos
deferasiroxchelating agent
deferiprone
EuropePMC
Wikidata
Papers 10a
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