A beta-talassemia (BT) intermediária é uma forma de BT caracterizada por anemia leve a moderada que não requer ou apenas ocasionalmente requer transfusão.
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.
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Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Involved in oxygen transport from the lung to the various peripheral tissues LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation
Heinz body anemias
Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
Medicamentos e terapias
Mecanismo: Ribonucleoside-diphosphate reductase RR1 inhibitor
Mecanismo: Inhibin beta A chain inhibitor
Mecanismo: Transmembrane protease serine 6 mRNA antisense inhibitor
Variantes genéticas (ClinVar)
615 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 13 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
10 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Talassemia beta intermédia
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Publicações mais relevantes
The impact of the expression signatures of LncRNAs HBBP1 and XIST on the diagnostic significance of patients with β-Thalassemia.
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.
Magnitude of Beta-Hemoglobinopathies through Biomarkers among the Selected Tribes of Dharmapuri, Tamil Nadu: A Community-Based Cross-Sectional Study.
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.
Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review.
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.
Iron Overload-Related Oxidative Stress Leads to Hyperphosphorylation and Altered Anion Exchanger 1 (Band 3) Function in Erythrocytes from Subjects with β-Thalassemia Minor.
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.
Predictors of Delayed Hemolytic Transfusion Reactions in Children With Beta-Thalassemia Intermedia: Insight From a Tunisian Reference-Center Analysis.
Publicações recentes
The impact of the expression signatures of LncRNAs HBBP1 and XIST on the diagnostic significance of patients with β-Thalassemia.
Unraveling the link: Beta-thalassemia intermedia and Moyamoya syndrome-a hidden connection.
Hemoglobin Dieppe (HBB:c. 383A > G): A Rare Dominant β-Thalassemia in an Iraqi Kurdish Family.
Novel HBB:c.375_376delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report.
📚 EuropePMC165 artigos no totalmostrando 199
The impact of the expression signatures of LncRNAs HBBP1 and XIST on the diagnostic significance of patients with β-Thalassemia.
Annals of hematologyUnraveling the link: Beta-thalassemia intermedia and Moyamoya syndrome-a hidden connection.
Oxford medical case reportsHemoglobin Dieppe (HBB:c. 383A > G): A Rare Dominant β-Thalassemia in an Iraqi Kurdish Family.
HemoglobinNovel HBB:c.375_376delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report.
MedicineErythroid activity modulates iron regulation in pathological erythropoiesis: A cross-sectional case-control study.
The Indian journal of medical researchMagnitude 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 researchPredictors of Delayed Hemolytic Transfusion Reactions in Children With Beta-Thalassemia Intermedia: Insight From a Tunisian Reference-Center Analysis.
Pediatric blood & cancerTherapeutic Response to Hydroxyurea in Beta-Thalassemia Intermedia with Rare Mutation: A Case Report.
HemoglobinNeurotherapy as a Complementary Approach for Beta-Thalassemia Intermedia.
Nigerian medical journal : journal of the Nigeria Medical AssociationSurvey of Red Cell Transfusion Therapy and Immunohematology Services for Patients with Hemoglobinopathies in Türkiye.
Turkish journal of haematology : official journal of Turkish Society of HaematologyLiver 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)Effective non-surgical management of spinal cord compression from extra-medullary hematopoiesis with radiotherapy in thalassemia intermedia: a case report.
Oxford medical case reportsApplication 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 diseasesUnusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H Variants.
HemoglobinPancreatic Volume in Thalassemia: Determinants and Association with Alterations of Glucose Metabolism.
Diagnostics (Basel, Switzerland)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 sciencesHemolysis due to anti-IH in a patient with beta-thalassemia and Mycoplasma pneumoniae infection.
ImmunohematologyA case of intrathoracic extramedullary hematopoiesis-associated pleural effusion in a beta-thalassemia intermedia patient and a short literature review.
SAGE open medical case reportsSerum lipid profile abnormalities among beta-thalassemia patients: a systematic review and meta-analysis.
Lipids in health and diseaseEfficacy and safety of thalidomide in patients with β-thalassemia intermedia and major.
MedicineHealth-Related Quality of Life of Adolescents With Non-transfusion-Dependent Thalassemia in Basrah, Iraq.
CureusAcute disseminated encephalomyelitis (ADEM) in a patient with post streptococcal glomerulonephritis (PSGN): A case report.
Clinical case reportsEarly Detection of Myocardial Involvement in Thalassemia Intermedia Patients: Multiparametric Mapping by Magnetic Resonance Imaging.
Journal of magnetic resonance imaging : JMRIIntegrated metabolomic and microbiome analysis identifies Cupriavidus metallidurans as a potential therapeutic target for β-thalassemia.
Annals of hematologyIn vivo silencing of intestinal DMT1 mitigates iron loading in β-thalassemia intermedia (Hbbth3/+) mice.
Blood advancesSafety and efficacy of human apotransferrin infusion in patients with β-thalassemia intermedia: the AIM study.
HaematologicaLoss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.
International journal of molecular sciencesCharacterization and Clinical Assessment of a Peculiar Case of Hemolytic Anemia.
Journal of hematologyMurine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.
BloodMitoxantrone ameliorates ineffective erythropoiesis in a β-thalassemia intermedia mouse model.
Blood advancesModerate-severe beta-thalassemia intermedia phenotype caused by sextuplicated alpha-globin gene allele in two beta-thalassemia carriers.
American journal of hematologyA Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient.
HemoglobinImpact of genotype on multi-organ iron and complications in patients with non-transfusion-dependent β-thalassemia intermedia.
Annals of hematologyUnravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
BiomedicinesAn update on recent studies of extracellular vesicles and their role in hypercoagulability in thalassemia (Review).
Biomedical reportsSuppression of Growth Differentiation Factor 15 Gene Expression by Curcumin in Patients with Beta-Thalassemia Intermedia.
Clinical laboratoryTwo novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.
Human genomicsPhenotypic Clustering of Beta-Thalassemia Intermedia Patients Using Cardiovascular Magnetic Resonance.
Journal of clinical medicineFrequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab.
Pakistan journal of medical sciencesTransfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes.
European journal of haematologyClinical 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)Rare Presentation of β-Thalassemia Intermedia With a Phenotype of Dilated Cardiomyopathy.
CJC openEpidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
American journal of hematologyDominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.
Pediatric blood & cancerAn Expert Overview on Therapies in Non-Transfusion-Dependent Thalassemia: Classical to Cutting Edge in Treatment.
HemoglobinBone 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 DensitometryPotent, Gut-Restricted Inhibitors of Divalent Metal Transporter 1: Preclinical Efficacy against Iron Overload and Safety Evaluation.
The Journal of pharmacology and experimental therapeuticsMitapivat for sickle cell disease and thalassemia.
Drugs of today (Barcelona, Spain : 1998)Differential proteomic patterns of plasma extracellular vesicles show potential to discriminate β-thalassemia subtypes.
iScienceβ-thalassemia intermedia mimicking β-thalassemia trait: The importance of family studies and HBB genotyping in phenotypically ambiguous cases.
International journal of laboratory hematologyβ-Thalassemia in childhood: Current state of health in a high-income country.
British journal of haematologyProtein C and S levels in patients with Thalassemia intermedia.
Journal of medicine and lifeInvestigation 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 : MGGRegulation of iron homeostasis by hepatocyte TfR1 requires HFE and contributes to hepcidin suppression in β-thalassemia.
BloodNon-Transfusion-Dependent Thalassemia: A Panoramic Review.
Medicina (Kaunas, Lithuania)Renal Dysfunction in Pediatric Patients in Iraq With β-Thalassemia Major and Intermedia.
CureusThe hemoglobinopathies, molecular disease mechanisms and diagnostics.
International journal of laboratory hematologyβ-Thalassemia Intermedia Caused by the β-Globin Gene 3' Untranslated Region: Another Case Report.
HemoglobinThe 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 researchImpact of IFN-β1a in treatment of a COVID-19 patient with beta thalassemia and diabetes mellitus: A case report.
Clinical case reportsIntraoperative Cell-Saver Caused More Autologous Salvage Hemolysis in a Hereditary Spherocytosis Patient Than in a Normal Erythrocyte Patient.
Frontiers in physiologyAlpha-globin gene triplication and its effect in beta-thalassemia carrier, sickle cell trait, and healthy individual.
EJHaemStroke propensity in the Th3+/ mouse model of β-thalassemia intermedia.
Neurobiology of diseaseDual 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 radiologyBone mineral density in primarily preadolescent children with hemoglobin E/β-thalassemia with different severities and transfusion requirements.
Pediatric blood & cancerEfficacy 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 diseasesβ-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain.
Frontiers in medicineIron overload status in patients with non-transfusion-dependent thalassemia in China.
Therapeutic advances in hematologyAlpha- and Beta-thalassemia: Rapid Evidence Review.
American family physicianThe Effect of Curcumin on Iron Overload in Patients with Beta-Thalassemia Intermedia.
Clinical laboratoryTherapeutic potential of silymarin as a natural iron-chelating agent in β-thalassemia intermedia.
Clinical case reportsDominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report.
HemoglobinMurine models of sickle cell disease and beta-thalassemia demonstrate pulmonary hypertension with distinctive features.
Pulmonary circulationPitfalls in the Diagnosis of β-Thalassemia Intermedia.
HemoglobinSubclinical atherosclerotic predictive value of inflammatory markers in thalassemia intermedia patients.
Expert review of hematologyDigital thermography and vascular involvement in β-thalassemia intermedia.
Annals of hematologyBeta-thalassemia intermedia with ischemic transients misdiagnosed as multiple sclerosis: A case report.
Current journal of neurologyModulatory 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 AssociationDevelopment of the Quality of Life Questionnaire (SF-36) for Patients with β-Thalassemia Major and β-Thalassemia Intermedia Based on Extended Rasch Analysis.
HemoglobinCompound heterozygotes of Hb Constant Spring and Hb Stanleyville II in HbE/β0-thalassemia.
Clinical chemistry and laboratory medicineSpontaneous osteonecrosis of the jaw in a β-Thalassemia intermedia patient.
Journal of stomatology, oral and maxillofacial surgeryOxidative status in the β-thalassemia syndromes in Sri Lanka; a cross-sectional survey.
Free radical biology & medicineChronic Hemolysis May Adversely Affect Skeletal Health. A Cross-Sectional Study of a Pediatric Population.
HemoglobinA 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 & genomic medicineIncidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report.
CureusThe 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 hematologyProminent pseudo-Gaucher cells in a patient with β-thalassemia intermedia and plasma cell myeloma.
BloodThe relation between mitogen activated protein kinase (MAPK) pathway and different genes expression in patients with beta Thalassemia.
Biochemistry and biophysics reportsGlobal loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model.
American journal of hematologyEvaluation of Adipokines Concentration in Iraqi Patients with Major and Minor Beta Thalassemia.
Reports of biochemistry & molecular biologyAcute lymphoblastic leukemia in a β-thalassemia intermedia child: A case report.
World journal of clinical pediatricsPhenotypical and functional abnormalities of circulating neutrophils in patients with β-thalassemia.
Annals of hematologyCorrigendum to "Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq".
BioMed research internationalPreliminary Data on COVID-19 in Patients with Hemoglobinopathies: A Multicentre ICET-A Study.
Mediterranean journal of hematology and infectious diseasesAssociation 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 diseasesCorrecting β-thalassemia by combined therapies that restrict iron and modulate erythropoietin activity.
BloodmiR-30a regulates γ-globin expression in erythoid precursors of intermedia thalassemia through targeting BCL11A.
Molecular biology reportsAssessment of Atherosclerosis in Peripheral and Central Circulation in Adult β Thalassemia Intermedia Patients by Color Doppler Ultrasound: Egyptian Experience.
Journal of vascular researchBeta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq.
BioMed research internationalThree Mexican Families with β thalassemia intermedia with different molecular basis.
Genetics and molecular biologyMolecular 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 geneticsTwo Rare Pathogenic HBB Variants in a Patient with β-Thalassemia Intermedia.
Turkish journal of haematology : official journal of Turkish Society of HaematologyAssociation between Different Polymorphic Markers and β-Thalassemia Intermedia in Central Iran.
HemoglobinEvaluation of endocrine complications in beta-thalassemia intermedia (β-TI): a cross-sectional multicenter study.
EndocrineGenetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia.
Blood cells, molecules & diseasesA 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.
HemoglobinEvaluating 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, BiointerfacesOral ferroportin inhibitor VIT-2763: First-in-human, phase 1 study in healthy volunteers.
American journal of hematologyOral ferroportin inhibitor ameliorates ineffective erythropoiesis in a model of β-thalassemia.
The Journal of clinical investigationGeneration of an in vitro model of β-thalassemia using the CRISPR/Cas9 genome editing system.
Journal of cellular biochemistryRare double heterozygosity for poly A(A〉 G) and CD17(A〉 T) of beta thalassemia intermedia in a Chinese family.
Hematology reportsHeme-regulated eIF2α kinase in erythropoiesis and hemoglobinopathies.
BloodA De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child.
HemoglobinPredictors of autoimmune hemolytic anemia in beta-thalassemia patients with underlying red blood cells autoantibodies.
Blood cells, molecules & diseasesMahidol Scoring for Assessing Various Grades of β Thalassemia Intermedia.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPFinal 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 diseasesA 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.
HemoglobinPrevalence of abnormal glucose homeostasis in Chinese patients with non-transfusion-dependent thalassemia.
Diabetes, metabolic syndrome and obesity : targets and therapyActivin-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 hematologyRole of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort Study.
HemoglobinCrosstalk between cytokine profile, redox, and iron status in β-Thalassemia: relation to frequency/duration of blood transfusion.
Pediatric hematology and oncology[Significance of Tissue Factor-Bearing Microparticle Procoagulation Activity and Antithrombin Ⅲ Detection in Thalassemia Patients].
Zhongguo shi yan xue ye xue za zhiThe impact of illness perception and socio-clinico-demographic factors on perceived quality of life in children and adolescents with thalassemia intermedia.
Pediatric blood & cancerMolecular characterization of β-thalassemia intermedia in the West Bank, Palestine.
BMC hematologyGenetic loss of Tmprss6 alters terminal erythroid differentiation in a mouse model of β-thalassemia intermedia.
HaematologicaHb 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 pediatricsKrüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia.
HemoglobinImbalance of erythropoiesis and iron metabolism in patients with thalassemia.
International journal of medical sciencesVascular and hemostatic alterations associated with pulmonary hypertension in β-thalassemia hemoglobin E patients receiving regular transfusion and iron chelation.
Thrombosis researchGlobal analysis of erythroid cells redox status reveals the involvement of Prdx1 and Prdx2 in the severity of beta thalassemia.
PloS oneValidation of a patient-reported outcomes symptom measure for patients with nontransfusion-dependent thalassemia (NTDT-PRO© ).
American journal of hematologyAlterations of anticoagulant proteins and soluble endothelial protein C receptor in thalassemia patients of Chinese origin.
Thrombosis researchThe survival rate of patients with beta-thalassemia major and intermedia and its trends in recent years in Iran.
Epidemiology and healthRetrospective study of the incidence of portal vein thrombosis after splenectomy in hematological disorders: Risk factors and clinical presentation.
Blood cells, molecules & diseasesCompound 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.
HemoglobinEfficacy and safety of resveratrol, an oral hemoglobin F-augmenting agent, in patients with beta-thalassemia intermedia.
Annals of hematologyFirst Report of β-Thalassemia Intermedia in a Patient Compound Heterozygous for -92 (C>T) and Codons 36/37 (-T) Mutations.
HemoglobinDeferoxamine-induced electronegative ERG responses.
Documenta ophthalmologica. Advances in ophthalmologyRelationship of the Interaction Between Two Quantitative Trait Loci with γ-Globin Expression in β-Thalassemia Intermedia Patients.
HemoglobinGenotype-phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis.
Journal of blood medicineManagement of Children With β-Thalassemia Intermedia: Overview, Recent Advances, and Treatment Challenges.
Journal of pediatric hematology/oncologyPartial Splenectomy in the treatment of an adult with β thalassemia intermedia: A case report.
International journal of surgery case reportsRNAi-mediated reduction of hepatic Tmprss6 diminishes anemia and secondary iron overload in a splenectomized mouse model of β-thalassemia intermedia.
American journal of hematologyHepatocellular Carcinoma in a β-Thalassemia Intermedia Patient: Yet Another Case in the Expanding Epidemic.
HemoglobinOptimal Reference Gene Selection for Expression Studies in Human Reticulocytes.
The Journal of molecular diagnostics : JMDElevations of Thrombotic Biomarkers in Hemoglobin H Disease.
Acta haematologicaβ-Thalassemia intermedia: a comprehensive overview and novel approaches.
International journal of hematologyA prospective analysis for prevalence of complications in Thai nontransfusion-dependent Hb E/β-thalassemia and α-thalassemia (Hb H disease).
American journal of hematologyThalassemia Major and Intermedia in Patients Older than 35 Years: A Single Center Experience.
The Israel Medical Association journal : IMAJInhibition of heme oxygenase ameliorates anemia and reduces iron overload in a β-thalassemia mouse model.
BloodBlood transfusion versus hydroxyurea in beta-thalassemia in Iran: a cost-effectiveness study.
Hematology (Amsterdam, Netherlands)Short-term administration of JAK2 inhibitors reduces splenomegaly in mouse models of β-thalassemia intermedia and major.
HaematologicaThe Impact of Transfusion and Chelation on Oxidative Stress in Immigrant Syrian Children with β-Thalassemia.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionPrevalence of low bone mass among adolescents with nontransfusion-dependent hemoglobin E/β-thalassemia and its relationship with anemia severity.
Pediatric blood & cancerComparison of Quality of Life in Patients with β-Thalassemia Intermedia and β-Thalassemia Major in Southern Iran.
HemoglobinEvaluation 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/oncologyThalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (-T)] mutation of beta globin gene and HPFH3.
Clinical case reportsWhole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.
Cold Spring Harbor molecular case studiesRed blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study.
British journal of haematologySerum Hepcidin as a Diagnostic Marker of Severe Iron Overload in Beta-thalassemia Major.
Indian journal of pediatricsHomozygous Mutation on the β-Globin Polyadenylation Signal in a Tunisian Patient with β-Thalassemia Intermedia and Coinheritance of Gilbert's Syndrome.
HemoglobinRevisiting beta thalassemia intermedia: past, present, and future prospects.
Hematology (Amsterdam, Netherlands)Papillary Fibroelastoma as a Cause of Cardiogenic Embolic Stroke in a β-Thalassemia Patient: Case Report and Literature Review.
Case reports in cardiologyHydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis.
Hematology/oncology and stem cell therapyA Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant.
HemoglobinCombination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β0-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia.
HemoglobinGenetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients.
HemoglobinBone quality in beta-thalassemia intermedia: relationships with bone quantity and endocrine and hematologic variables.
Annals of hematologySoluble 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/HemostasisPregnancy 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 hematologyLiver transplantation from a deceased donor with β-thalassemia intermedia is not contraindicated: A case report.
Pediatric transplantationThe association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients.
Blood cells, molecules & diseasesRelationship Between Some Single-nucleotide Polymorphism and Response to Hydroxyurea Therapy in Iranian Patients With β-Thalassemia Intermedia.
Journal of pediatric hematology/oncologyKlf10 Gene, a Secondary Modifier and a Pharmacogenomic Biomarker of Hydroxyurea Treatment Among Patients With Hemoglobinopathies.
Journal of pediatric hematology/oncologyExcellent 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 medicineEPO and hepcidin plasma concentrations in blood donors and β-thalassemia intermedia are not related to commercially tested plasma ERFE concentrations.
American journal of hematologyClinical and biological specificity of beta-thalassemia intermedia: a case report.
Annales de biologie cliniqueFirst description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients.
HemoglobinA Patient with β-Thalassemia Intermedia Secondary to Homozygosity for a Polyadenylation Signal Mutation (AATAAA > AATAGA) (HBB: C.*112A > G) on the β-Globin Gene.
HemoglobinA Comparison of Hemostatic Changes in Splenectomized and Nonsplenectomized β-Thalassemia Intermedia Patients.
Journal of pediatric hematology/oncologyCan 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)A case report of extramedullary haematopoeisis in lumbosacral region presenting as cauda equina syndrome.
International journal of spine surgeryA comparison of heart function and arrhythmia in clinically asymptomatic patients with beta thalassemia intermedia and beta thalassemia major.
Hematology (Amsterdam, Netherlands)CLINICAL APPLICATION OF RECOMBINANT ERYTHROPOIETIN IN BETA-THALASSAEMIA INTERMEDIA.
Georgian medical newsCan hydroxyurea serve as a free radical scavenger and reduce iron overload in β-thalassemia patients?
Free radical researchStudy of red blood cell alloimmunization risk factors in multiply transfused thalassemia patients: role in improving thalassemia transfusion practice in Fayoum, Egypt.
TransfusionHigh incidence of silent cerebral infarcts in adult patients with beta thalassemia major.
Thrombosis researchEvaluation of bone mineral density in patients with hemoglobin H disease.
Annals of hematologyEvaluation of the Relationship Between Hb F Levels and Nucleated Red Blood Cells with Morbidity in Non Transfusion-Dependent Thalassemia Patients.
HemoglobinMolecular Characterization of β-Thalassemia Intermedia in Southeast Iran.
HemoglobinCardiac and thrombotic complications in the peripartum period of a patient affected by beta-thalassemia intermedia: An unusual case.
International journal of cardiologyPulmonary hypertension associated with thalassemia syndromes.
Annals of the New York Academy of SciencesTwo novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families.
Molecular genetics and genomics : MGGRisk factors for venous thromboembolism in adults with hemoglobin SC or Sβ(+) thalassemia genotypes.
Thrombosis research[Screening and molecular diagnosis for a rare genotype of beta-thalassemia intermedia].
Zhonghua er ke za zhi = Chinese journal of pediatricsA Large Cohort Study of Genotype and Phenotype Correlations of Beta- Thalassemia in Iranian Population.
International journal of hematology-oncology and stem cell researchReal-life experience with liver iron concentration R2 MRI measurement in patients with hemoglobinopathies: baseline data from LICNET.
European journal of haematology"Silent" β-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A2.
The Turkish journal of pediatricsSensorineural hearing loss in β-thalassemia patients treated with iron chelation.
Ear, nose, & throat journalAssociações
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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.
- The impact of the expression signatures of LncRNAs HBBP1 and XIST on the diagnostic significance of patients with β-Thalassemia.
- Magnitude of Beta-Hemoglobinopathies through Biomarkers among the Selected Tribes of Dharmapuri, Tamil Nadu: A Community-Based Cross-Sectional Study.
- Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review.
- Iron Overload-Related Oxidative Stress Leads to Hyperphosphorylation and Altered Anion Exchanger 1 (Band 3) Function in Erythrocytes from Subjects with β-Thalassemia Minor.
- Predictors of Delayed Hemolytic Transfusion Reactions in Children With Beta-Thalassemia Intermedia: Insight From a Tunisian Reference-Center Analysis.
- Beta-Thalassemia.
- Unraveling the link: Beta-thalassemia intermedia and Moyamoya syndrome-a hidden connection.
- Hemoglobin Dieppe (HBB:c. 383A > G): A Rare Dominant β-Thalassemia in an Iraqi Kurdish Family.
- Novel HBB:c.375_376delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:231222(Orphanet)
- MONDO:0016487(MONDO)
- Talassemia(PCDT · Ministério da Saúde)
- GARD:17163(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
