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Recent advances in β-thalassemias
Pediatric Reports, 2011 β-thalassemias, a group of autosomal recessive disorders resulting from reduced or absent production of β-globin chains from the β-globin locus, are very heterogeneous at the molecular level (for review see Weatherall & Clegg, 2001 and Cao & Galanello).1-
Antonio Cao, Paolo Moi, Renzo Galanello
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Heterozygous β-thalassemia with thalassemia intermedia phenotype [PDF]
American Journal of Hematology, 1998 In this study we investigated the molecular bases of the beta-thalassemia intermedia phenotype in six patients belonging to two unrelated families of Sardinian descent. Sequence analysis of the beta globin gene from these patients detected, as the sole abnormality, the heterozygosity for the codon 39 nonsense mutation.
D, Gasperini +7 more
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Pre-implantation Genetic Diagnosis of Thalassemias
Thai Journal of Obstetrics and Gynaecology, 2018 Beta-Thalassemia major, beta-thalassemia-Hb E disease and Hb Bart’s disease are severe hereditary anemia which are prevalent in Thailand and neighborhood countries.
Wirawit Piyamongkol
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Hospitalization causes due to iron overload in beta-Thalassemia in Gorgan, Iran [PDF]
, 2011 Objective: To evaluate causes of hospitalization (due to complications of iron overload and other causes) in beta-Thalassemic patients. Methodology: This study was performed on 244 patients with major beta-Thalassemia admitted in Taleghani hospital of ...
Jahazi, A. +2 more
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Residual erythropoiesis protects against myocardial hemosiderosis in transfusion-dependent thalassemia by lowering labile plasma iron via transient generation of apotransferrin [PDF]
, 2017 Cardiosiderosis is a leading cause of mortality in transfusion-dependent thalassemias. Plasma non-transferrin-bound iron and its redox-active component, labile plasma iron, are key sources of iron loading in cardiosiderosis.
Evans, P +4 more
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Cyclophosphamide (CY) is associated with potentially fatal cardiotoxicity, yet no electrocardiographic indices have been established for early detection of CY‐induced cardiomyopathy. This study aimed to determine whether corrected QT interval (QTc) prolongation can predict early onset of CY‐related cardiac dysfunction in pediatric ...
Junpei Kawamura +5 more
wiley +1 more source
Haematologica, 2015 β-thalassemias are monogenic disorders characterized by defective synthesis of the β-globin chain, one of the major components of adult hemoglobin. A large number of mutations in the β-globin gene or its regulatory elements have been associated with β ...
Stefano Rivella
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Inherited hemolytic disorders with high occurrence of b-thalassemia in Sindhi community of Jabalpur town in Madhya Pradesh, India [PDF]
, 2010 Hereditary hemolytic disorders such as hemoglobin disorders, β-thalassemia syndrome, G6PD deficiency, and ABO and Rhesus blood groups are the most common public health problems in India.
Balgir, RS
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Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay [PDF]
, 2017 BACKGROUND: The thalassemia syndromes are classified according to the globin chain or chains whose production is affected. β-thalassemias are caused by point mutations or, more rarely, deletions or insertions of a few nucleotides in the β-globin gene or
Adamowicz-Salach, Anna +10 more
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