Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families
Human Genomics, 2023 Background β-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of sequencing technic, more and more variants are being discovered.
Xiuqin Bao +10 more
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Alpha-Hemoglobin Stabilizing Protein Gene Polymorphism (rs4499252 A/G) and its Association with Beta-Thalassemia Major in Iraqi Patients [PDF]
Archives of Razi Institute, 2022 Beta thalassemia (β-thalassemia) major is a genetic disorder of hemoglobin production that results in a diminished rate of synthesis of one or more of the globin chains causing variable degrees of anemia.
M Adnan Khalaf +3 more
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Alpha and beta-Thalassemia mutations in Hubei area of China
BMC Medical Genetics, 2020 Background Thalassemia is a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China.
Yaowu Zhu +4 more
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Protein C and Protein S Levels in β-Thalassemia Major Patients in Erbil, Kurdistan Region
Cellular and Molecular Biology, 2020 Oxygen is transported in the blood through red blood cells and a protein called hemoglobin. The protein consists of two alpha and two beta chains. The lack of any of these chains is caused by the malfunction of the genes that produce them, and can lead to a genetic disease called thalassemia.
Tareefa Kakakhan, Hadi +2 more
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Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients [PDF]
, 2017 Background: Human erythropoiesis is characterized by distinct gene expression profiles at various developmental stages. Previous studies suggest that fetal-to-adult hemoglobin switch is regulated by a complex mechanism, in which many key players still ...
Ali, Bassam R. +11 more
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Annals of Medicine, 2023 Background Low HbF expression in HbE-β+-thalassemia may lead to misdiagnosis of HbE heterozygosity. We aimed to characterize the β- and α-globin genes and the modifying factors related to HbF expression in patients with an Hb phenotype similar to that of
Wittaya Jomoui +2 more
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Immunity to Pneumococcal Vaccine in Splenectomized β-Thalassemia Patients [PDF]
American Journal of Immunology, 2012 Problem statement: Splenectomy is accompanied by a lifelong risk of overwhelming post splenectomy infection, mainly caused by encapsulated bacteria such as Streptococcus pneumoniae. The mortality rate in those infected patients remains high. Therefore the pneumococcal polysaccharide vaccine has been recommended.
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Open Access Macedonian Journal of Medical Sciences, 2020 BACKGROUND: Iron overload is the main cause of oxidative stress in beta-thalassemia (βT) by the increased production of free radicals and reactive oxygen species. Antioxidants counteract the toxic effects of oxidative stress. AIM: This study aims to evaluate the total antioxidant capacity (TAC) and the possible impact of splenectomy, iron chelators ...
Talaat, Ahmed +3 more
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Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis [PDF]
, 2009 Co-inheritance of α-thalassemia with homozygosity or compound heterozygosity for β-thalassemia may ameliorate β-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of α-thalassemia alleles (-α/αα --/αα, --/-α).
George, Elizabeth +4 more
core +1 more source
Majalah Kedokteran Bandung, 2015 Iron overload is the common cause of morbidity and mortality in severe β-thalassemia patients. Many factors influence the iron status in severe β-thalassemia.
Susi Susanah, Ponpon Idjradinata
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