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Beta-thalassemia [PDF]

open access: yesGenetics in Medicine, 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 ...
A Cao
exaly   +8 more sources

The history of beta-thalassemia in Turkey

open access: yesThe 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
doaj   +2 more sources

Knowledge of Children and Adolescents with Beta Thalassemia Major about their Disease: An Assessment Study [PDF]

open access: yesEgyptian Journal of Health Care, 2022
Background: Beta-thalassemia major is the most common hemoglobin disorder in the world. Assessing the knowledge of the children and adolescents regarding a beta- thalassemia major is important because helps to avoid complications.
Salma El Sayed Hassan   +3 more
doaj   +1 more source

Venous thromboembolism risk assessment among beta-thalassemia patients

open access: yesJournal of Applied Hematology, 2023
BACKGROUND: Thromboembolic (TE) disorders are among the most common complications of beta-thalassemia. We designed this cross-sectional study to investigate the state of hypercoagulability and platelet activation in patients with beta-thalassemia ...
Hasnaa A Abo-Elwafa   +5 more
doaj   +1 more source

Alpha‐globin gene triplication and its effect in beta‐thalassemia carrier, sickle cell trait, and healthy individual

open access: yeseJHaem, 2021
The genotype and phenotype correlation between coinheritance of heterozygous beta‐thalassemia with the alpha‐globin triplication is unclear. In this study we have investigated and reviewed alpha triplication frequency in beta‐thalassemia carriers, sickle
Mohammad Hamid   +6 more
doaj   +1 more source

Thalassemia

open access: yesTrends 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
doaj   +1 more source

Comparison of biochemical parameters of prevalent hemoglobinopathies with healthy individuals

open access: yesMedicine 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
doaj   +1 more source

The survival rate of patients with beta-thalassemia major and intermedia and its trends in recent years in Iran [PDF]

open access: yesEpidemiology and Health, 2018
OBJECTIVES Thalassemia is a common genetic disease in Iran, especially in the north and south of Iran. The present study sought to determine the survival rate of patients with thalassemia in highly endemic regions of Iran and its variation in patients ...
Alireza Ansari-Moghaddam   +4 more
doaj   +1 more source

BETA THALASSEMIA

open access: yesThe Professional Medical Journal, 2018
Background: Inadequate Blood Transfusion is responsible for various problemsin children with Thalasseima. On the other hand, repeated transfusions are related with hazards.About 25-50% of the children with thalassemia major have impaired glucose tolerance (IGT)or diabetes.
Iqbal Ahmed   +6 more
openaire   +3 more sources

Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Hepcidin and hemochromatosis (HFE) are iron regulatory proteins that are encoded by HAMP and HFE genes. Mutation in either HAMP gene or HFE gene causes Hepcidin protein deficiency that can lead to iron overload in beta thalassemia patients ...
Maryam Shah   +7 more
doaj   +1 more source

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