Results 11 to 20 of about 219,391 (317)
Genetics in Medicine, 2023 Beta-thalassemia is caused by the reduced (beta+) or absent (beta0) synthesis of the beta globin chains of the hemoglobin tetramer. Three clinical and hematological conditions of increasing severity are recognized, i.e., the beta-thalassemia carrier ...
A. Cao, R. Galanello
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American journal of hematology/oncology, 2023 This systematic literature review assessed the global prevalence and birth prevalence of clinically significant forms of alpha‐ and beta‐thalassemia. Embase, MEDLINE, and the Cochrane Library were searched for observational studies published January 1 ...
K. Musallam +8 more
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Diagnostics, 2023 Thalassemia is one of the most heterogeneous diseases, with more than a thousand mutation types recorded worldwide. Molecular diagnosis of thalassemia by conventional PCR-based DNA analysis is time- and resource-consuming owing to the phenotype ...
S. Hassan +7 more
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HemaSphere, 2022 Beta-thalassemia and particularly its transfusion-dependent form (TDT) is a demanding clinical condition, requiring life-long care and follow-up, ideally in specialized centers and by multidisciplinary teams of experts.
D. Farmakis +5 more
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Cardiovascular Complications in β-Thalassemia: Getting to the Heart of It
Thalassemia Reports, 2023 Beta thalassemia is an inherited disorder resulting in abnormal or decreased production of hemoglobin, leading to hemolysis and chronic anemia. The long-term complications can affect multiple organ systems, namely the liver, heart, and endocrine ...
Nathalie Akiki +4 more
semanticscholar +1 more source
Applications of Artificial Intelligence in Thalassemia: A Comprehensive Review
Diagnostics, 2023 Thalassemia is an autosomal recessive genetic disorder that affects the beta or alpha subunits of the hemoglobin structure. Thalassemia is classified as a hypochromic microcytic anemia and a definitive diagnosis of thalassemia is made by genetic testing ...
K. Ferih +7 more
semanticscholar +1 more source
Current status of beta‐thalassemia and its treatment strategies
Molecular Genetics & Genomic Medicine, 2021 Thalassemia is an inherited hematological disorder categorized by a decrease or absence of one or more of the globin chains synthesis. Beta‐thalassemia is caused by one or more mutations in the beta‐globin gene.
Shaukat Ali +11 more
semanticscholar +1 more source
Definitions, 2020 The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of ...
Antonio Piga +3 more
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Thalassemia Major and Associated Psychosocial Problems: A Narrative Review
Iranian Journal of Public Health, 2022 Thalassemia is an inherited disease that causes the production of damaged hemoglobin chains. Patients are diagnosed with thalassemia major due to major clinical signs and deep anemia.
Hazel Şahin Tarım, Fatma Öz
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CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia.
New England Journal of Medicine, 2020 Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are severe monogenic diseases with severe and potentially life-threatening manifestations. BCL11A is a transcription factor that represses γ-globin expression and fetal hemoglobin in
H. Frangoul +25 more
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