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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 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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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
openaire +8 more sources
Iron dysregulation in beta-thalassemia.
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
Background Screening of β thalassemia among close relatives is more feasible in highly prevalent countries with limited resources. The purpose of this study is to determine the prevalence of β thalassemia carriers and iron deficiency anemia among ...
M. El-Shanshory+19 more
semanticscholar +1 more source
Studies on molecular spectrum of beta thalassemia among residents of Chennai
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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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
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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Comparison of biochemical parameters of prevalent hemoglobinopathies with healthy individuals
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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Thalassemia syndromes are characterized by the inability to produce normal hemoglobin. Ineffective erythropoiesis and red cell transfusions are sources of excess iron that the human organism is unable to remove.
V. Pinto, G. Forni
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