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Beta Thalassemia [PDF]

open access: yesDefinitions, 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   +4 more sources

The transfusion management of beta thalassemia in the United States

open access: yesTransfusion, 2021
Pediatric Hematology, University of California, San Francisco, California, USA Pediatric Hematology/Oncology, Oregon Health and Science University, Portland, Oregon, USA Division of Hematology, University of Washington School of Medicine, Seattle ...
A. Lal   +11 more
semanticscholar   +1 more source

Prevalence of iron deficiency anemia and beta thalassemia carriers among relatives of beta thalassemia patients in Nile Delta region, Egypt: a multicenter study

open access: yesJournal of Egyptian Public Health Association, 2021
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

open access: yesAIMS 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
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

Effects of blood transfusion on exercise capacity in thalassemia major patients [PDF]

open access: yes, 2015
Anemia has an important role in exercise performance. However, the direct link between rapid changes of hemoglobin and exercise performance is still unknown.To find out more on this topic, we studied 18 beta-thalassemia major patients free of relevant ...
Agostoni, P   +8 more
core   +6 more sources

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

Management of Iron Overload in Beta-Thalassemia Patients: Clinical Practice Update Based on Case Series

open access: yesInternational Journal of Molecular Sciences, 2020
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
semanticscholar   +1 more source

SKRINING THALASSEMIA BETA MINOR PADA MAHASISWA FAKULTAS KEDOKTERAN UNIVERSITAS SRIWIJAYA

open access: yesJurnal Kedokteran dan Kesehatan, 2021
Berdasarkan data dari World Health Organization (WHO) tahun 2001, terdapat 7% populasi di seluruh dunia yang merupakan karier thalassemia atau penderita thalassemia minor. Di Indonesia, frekuensinya pun cukup tinggi yaitu 3-10%.
Medina Athiah   +2 more
doaj   +1 more source

Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation

open access: yesDrugs, 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

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