Articles with "thalassemia" as a keyword



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Diagnostic and prognostic contribution of targeted NGS in patients with triple‐negative myeloproliferative neoplasms

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Published in 2019 at "American Journal of Hematology"

DOI: 10.1002/ajh.25580

Abstract: REFERENCES 1. Taher AT, Weatherall DJ, Cappellini MD. Thalassemia. Lancet. 2018; 391(10116):155-167. 2. Cappellini MD, Porter JB, Viprakasit V, Taher AT. A paradigm shift on beta-thalassemia treatment: how will we manage this old disease with… read more here.

Keywords: diagnostic prognostic; contribution targeted; thalassemia; prognostic contribution ... See more keywords
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Management of non‐transfusion‐dependent β‐thalassemia (NTDT): The next 5 years

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Published in 2020 at "American Journal of Hematology"

DOI: 10.1002/ajh.26055

Abstract: To the Editor: Management of patients with β-thalassemia is undergoing a swift evolution, considering the number of novel agents recently receiving marketing approval or entering clinical development. Although (thankfully) the availability of new treatment options… read more here.

Keywords: ineffective erythropoiesis; thalassemia; management; transfusion ... See more keywords
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Marrow Fat Content and Composition in β‐Thalassemia: A Study using 1H‐MRS

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Published in 2020 at "Journal of Magnetic Resonance Imaging"

DOI: 10.1002/jmri.27294

Abstract: β‐thalassemia is a genetic disease that causes abnormal production of red blood cells (ineffective erythropoiesis, IE). IE is a condition known to change bone marrow composition. read more here.

Keywords: thalassemia; marrow fat; marrow; fat content ... See more keywords
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Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia

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Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.680

Abstract: Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, the Middle East, and the Mediterranean regions. Thalassemia was thought to exist only in southern China, but… read more here.

Keywords: china southeast; thalassemia; southeast asia; gene mutation ... See more keywords
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Frequency of hemoglobin E/β-thalassemia compound heterozygotes with low hemoglobin F phenotype among cases with a diagnosis of hemoglobin E homozygote, determined by high-performance liquid chromatography, in prenatal control program for β-thalassemia

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Published in 2017 at "Annals of Hematology"

DOI: 10.1007/s00277-017-3089-4

Abstract: Hemoglobin (Hb) E (HBB:c.79G>A)/β-thalassemia disease is the most common thalassemia syndrome in Southeast Asian countries with a high prevalence of Hb E. Even though patients could present with a wide spectrum of clinical severity, the… read more here.

Keywords: phenotype; prenatal control; homozygote; thalassemia ... See more keywords
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Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia

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Published in 2020 at "Annals of Hematology"

DOI: 10.1007/s00277-020-04017-2

Abstract: Dear Editor, Thalassemia is an autosomal recessive blood disorder caused by mutations in globin genes. Mutation in α-globin and β-globin gene results in reduced or absent synthesis of alpha and beta globin chain [1]. Thalassemia… read more here.

Keywords: globin; hematology; thalassemia; form ... See more keywords
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Thalassemia in the emergency department: special considerations for a rare disease

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Published in 2020 at "Annals of Hematology"

DOI: 10.1007/s00277-020-04164-6

Abstract: Thalassemia is characterized by a defect in the synthesis of one or more of the globin subunits of hemoglobin. This defect results in imbalance in the α/β-globin chain ratio, ineffective erythropoiesis, chronic hemolytic anemia, and… read more here.

Keywords: thalassemia; disease; emergency department; emergency ... See more keywords
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Effects of three months of treatment with vitamin E and N-acetyl cysteine on the oxidative balance in patients with transfusion-dependent β-thalassemia

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Published in 2020 at "Annals of Hematology"

DOI: 10.1007/s00277-020-04346-2

Abstract: Oxidative stress is a major mechanism contributing to the progression of β-thalassemia. To assess the effect of vitamin E and N-acetyl cysteine (NAC) as antioxidant agents on total oxidative stress (TOS) status and total antioxidant… read more here.

Keywords: treatment; group; thalassemia; vitamin acetyl ... See more keywords
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Exploring the Gap Between Knowledge and Behavior Regarding Thalassemia Among University Students: A Cross-Sectional Study in the United Arab Emirates

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Published in 2022 at "Journal of Community Health"

DOI: 10.1007/s10900-022-01066-8

Abstract: Thalassemia is humanity’s most common genetic disorder and represents a serious healthcare challenge in the United Arab Emirates. Increasing awareness is a crucial part of any successful strategy to prevent thalassemia. This research examined knowledge… read more here.

Keywords: thalassemia screening; thalassemia; knowledge; united arab ... See more keywords
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Co-Inheritance of alpha-thalassemia and sickle cell disease in a cohort of Angolan pediatric patients

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Published in 2020 at "Molecular Biology Reports"

DOI: 10.1007/s11033-020-05628-8

Abstract: The aim of this study was to explore the association between alpha-thalassemia, fetal hemoglobin, hematological indices, and clinical adverse events in Angolan sickle cell disease pediatric patients. A total of 200 sickle cell disease (SCD)… read more here.

Keywords: sickle cell; cell disease; alpha thalassemia; thalassemia ... See more keywords
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Depleted nitric oxide and prostaglandin E2 levels are correlated with endothelial dysfunction in β-thalassemia/HbE patients

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Published in 2017 at "International Journal of Hematology"

DOI: 10.1007/s12185-017-2247-8

Abstract: Mechanisms of vascular disorders in β-thalassemia/HbE patients remain poorly understood. In the present study, we aimed to determine the presence of endothelial dysfunction and its association with altered vascular mediators in this population. Forty-three β-thalassemia/HbE… read more here.

Keywords: endothelial dysfunction; hbe patients; thalassemia hbe; thalassemia ... See more keywords