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Thalassemia (severe form)
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Publications and studies (1521)
- Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families. (2023/12/08) ♡
- When should gene therapy be considered for transfusion-dependent β-thalassemia patients? (2023/12/08) ♡
- Pyruvate kinase activators: targeting red cell metabolism in thalassemia. (2023/12/08) ♡
- Base editing of the HBG promoter induces potent fetal hemoglobin expression with no detectable off-target mutations in human HSCs. (2023/12/07) ♡
- A prospective guide for clinical implementation of selected OGTT-derived surrogate indices for the evaluation of β-cell function and insulin sensitivity in patients with transfusion-dependent β-thalassaemia. (2023/12/05) ♡
- A retrospective study of glucose homeostasis, insulin secretion, sensitivity/resistance in non-transfusion-dependent β-thalassemia patients (NTD-β Thal): reduced β-cell secretion rather than insulin resistance seems to be the dominant defect for glucose dysregulation (GD). (2023/12/05) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Perturbations in lipid metabolism and gut microbiota composition precede cardiac dysfunction in a mouse model of thalassemia. (2023/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case report: Identification of a novel triplication of alpha-globin gene by the third-generation sequencing: pedigree analysis and genetic diagnosis. (2023/12/01) ♡
- Thalassaemia Patients with Polymorphism of <em>COL1A1</em> Sp1 are at Greater Risk of Spine Degenerative Changes. (2023/12/01) ♡
- [Gene Mutation Types of Thalassemia in Chongzuo Childbearing-age Population of Guangxi Zhuang Autonomous Region of China]. (2023/12/01) ♡
- [Characteristics of Silent Alpha Thalassemia Gene in Child-Bearing Adults in Guangdong]. (2023/12/01) ♡
- [Analysis of HKαα Genotype and Hematological Characteristics in South Guangxi]. (2023/12/01) ♡
- Molecular Characterization of Haemoglobin E. (2023/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Rare Heterozygote with a Novel IVS-Ⅱ-786 (T>A) Mutation on β-Globin Gene in a Patient with Thalassemia. (2023/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta-thalassemia. (2023/12/01) ♡
- THE ROLE OF COENZYME COQ10 AND VITAMIN E IN PATIENTS WITH BETA-THALASSEMIA MAJOR IN BAGHDAD CITY POPULATION. (2023/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Viral Vectors in Gene Replacement Therapy. (2023/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Drug Selection and Posology, Optimal Therapies and Risk/Benefit Assessment in Medicine: The Paradigm of Iron-Chelating Drugs. (2023/11/25) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Calcium channel blockers for preventing cardiomyopathy due to iron overload in people with transfusion-dependent beta thalassaemia. (2023/11/17) ♡
- UK regulator approves "groundbreaking" gene treatment for sickle cell and β thalassaemia. (2023/11/16) ♡
- CHMMOTv1 - cardiac and hepatic multi-echo (T2(*)) MRI images and clinical dataset for Iron overload on thalassemia patients. (2023/11/16) ♡
- Efficient repair of human genetic defect by CRISPR/Cas9-mediated interlocus gene conversion. (2023/11/13) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Endocrinopathies in Hemoglobinopathies: What Is the Role of Iron? (2023/11/13) ♡
- Magnetic resonance imaging assessment of the changes of cardiac and hepatic iron load in thalassemia patients before and after hematopoietic stem cell transplantation. (2023/11/10) ♡
- Drug product attributes predict clinical efficacy in betibeglogene autotemcel gene therapy for β-thalassemia. (2023/11/10) ♡
- Stratification of β(S)β(+) Compound Heterozygotes Based on L-Glutamine Administration and RDW: Focusing on Disease Severity. (2023/11/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Management of gingival hyperpigmentation induced by increased ferritin level in a HbS-β(+) thalassemia patient using diode laser. (2023/11/06) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Papillary Thyroid Carcinoma in a Pediatric Patient With β-Thalassemia. (2023/11/06) ♡
- A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country. (2023/11/01) ♡
- Accelerated atherosclerosis in beta-thalassemia. (2023/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. UK first to approve CRISPR treatment for diseases: what you need to know. (2023/11/01) ♡
- Premarital hemoglobinopathy screening program results of a province in the Black Sea region of Turkey: three years' experience. (2023/11/01) ♡
- CRISPR/Cas9 Ablated BCL11A Unveils the Genes with Possible Role of Globin Switching. (2023/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Adherence to Iron Chelation Therapy Among Children with Beta Thalassemia Major: A Multicenter Cross-Sectional Study. (2023/11/01) ♡
- Busulfan-Based and Treosulfan-Based Myeloablative Conditioning for Allogeneic Transplantation in Children with Thalassemia Major: a Single-Center Experience From Southern Turkey. (2023/11/01) ♡
- The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants. (2023/11/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. An Expert Overview on Therapies in Non-Transfusion-Dependent Thalassemia: Classical to Cutting Edge in Treatment. (2023/11/01) ♡
- Early screening of thalassemia in pregnant women in northern China by capillary electrophoresis for the determination of hemoglobin electrophoresis. (2023/10/31) ♡
- Thyroid and Adrenal Dysfunction in Hemoglobinopathies Before and After Allogeneic Hematopoietic Cell Transplant. (2023/10/31) ♡
- In Silico Molecular Docking and Dynamics Simulation Analysis of Potential Histone Lysine Methyl Transferase Inhibitors for Managing β-Thalassemia. (2023/10/25) ♡
- Phenotypic Clustering of Beta-Thalassemia Intermedia Patients Using Cardiovascular Magnetic Resonance. (2023/10/24) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unusual presentation of tractional retinal detachment in beta thalassemia minor. (2023/10/23) ♡
- Screening for hemoglobin disorders and investigating their hematological and demographic profile among patients attending a tertiary-care hospital in southern India-a descriptive study. (2023/10/23) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Exploring the Impact of Blood Disorders on Dental Caries. (2023/10/16) ♡
- Gut microbiota trajectory in β-thalassemia major children who underwent allogeneic hematopoietic stem cell transplantation. (2023/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal cord compression secondary to intraspinal extramedullary hematopoiesis. (2023/10/01) ♡
- Correlation of Magnesium Level with Cardiac and Hepatic Hemosiderosis Measured by T2*MRI Technique and Age in Patients with Thalassemia Major. (2023/10/01) ♡
- Compound heterozygous beta thalassaemia and hereditary persistence of foetal haemoglobin presenting as thalassemia intermedia. (2023/10/01) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. AN INCREASED RISK OF HORMONAL DISORDERS, PRIMARILY DIABETES, IN INDIVIDUALS WITH Β -THALASSEMIA MAJOR: A RETROSPECTIVE ANALYSIS. (2023/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Giant adrenal myelolipoma in a young male double heterozygous for HbS and beta-thalassemia trait, clinically simulating retroperitoneal sarcoma. (2023/10/01) ♡
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