Results 11 to 20 of about 1,014,717 (317)
Journal of Pathology of Nepal, 2014 Thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. About 1.5% of the global population (80 to 90 million people) are carriers of beta Thalassemia.
R Jha, S Jha
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The history of beta-thalassemia in Turkey
The Turkish Journal of Pediatrics, 1991 The first two patients with beta-thalassemia major in Turkey, were reported in 1941. However, the importance of beta-thalassemia as a health problem was brought to the attention of physicians only after 1950.
M Aksoy
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Orphanet Journal of Rare Diseases, 2010 Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10 ...
Galanello R, ORIGA, RAFFAELLA
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Iron dysregulation in beta-thalassemia.
Asian Pacific Journal of Tropical Medicine, 2016 Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide. Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron. The cellular iron balance in humans is primarily mediated by the hepcidin-ferroportin axis.
Kamonlak Leecharoenkiat +3 more
semanticscholar +3 more sources
Studies on molecular spectrum of beta thalassemia among residents of Chennai
AIMS Molecular Science, 2022 Beta thalassemia is caused by a mutation in the human beta globin gene. More than 400 causative mutations have been characterized in the Hemoglobin Subunit Beta (HBB) gene.
Bhuvana Selvaraj +4 more
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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
semanticscholar +1 more source
Trends in Pediatrics, 2021 Defects in protein structure or synthesis of hemoglobin are called hemoglobinopathies. Thalassemia is the most common hemoglobinopathy, and it is estimated that 5% of the world population carries at least one variant allele of thalassemia.
Tekin Aksu, Sule Unal
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Beta O-thalassemia intermedia [PDF]
Blood, 1978 Abstract Three patients with a relatively mild form of beta O-thalassemia who did not require regular blood transfusions are described. Globin synthesis was studied by gel filtration and urea-carboxymethylcellulose chromatography of stroma-free hemolysates prepared from peripheral blood and bone marrow cells labeled in vitro with 14C ...
Eliezer A. Rachmilewitz +3 more
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Comparison of biochemical parameters of prevalent hemoglobinopathies with healthy individuals
Medicine Science, 2020 Thalassemia is the most frequently seen monogenetic disorders around the world that is inherited as a recessive single-gene disease, resulting from mutations in α-or β-globin gene clusters.
Emrah Yerlikaya +2 more
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Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation
Drugs, 2020 Hemoglobinopathies are among the most common monogenic diseases worldwide. Approximately 1–5% of the global population are carriers for a genetic thalassemia mutation.
I. Motta +3 more
semanticscholar +1 more source