Genetic modifiers of beta-thalassemia.
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TLDR
The clinical and hematologic diversity encountered in beta thalassemia is reviewed with an overview of the modifier genes that moderate their disease expression.Abstract:
As the defective genes for more and more genetic disorders become unravelled, it is clear that patients with apparently identical genotypes can have many different clinical conditions even in simple monogenic disorders. Beta thalassemia occurs when there is a deficiency in the synthesis of beta globin chains. The clinical manifestations of beta thalassemia are extremely diverse, spanning a broad spectrum from severe anemia and transfusion-dependency to the asymptomatic state of thalassemia trait. The remarkable phenotypic diversity of the beta thalassemias is prototypical of how a wide spectrum of disease severity can be generated in single gene disorders. The most reliable and predictive factor of disease phenotype is the nature of the mutation at the beta globin locus itself. However, relating phenotype to genotype is complicated by the complex interaction of the environment and other genetic factors at the secondary and tertiary levels, some implicated from family studies, and others, as yet unidentified. This article reviews the clinical and hematologic diversity encountered in beta thalassemia with an overview of the modifier genes that moderate their disease expression.read more
Citations
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Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and β-thalassemia or Hb Sabine confirms the functional role of the Aγ - 158 C > T mutation in γ-globin gene transcription
Panagoula Kollia,Angelos Kalamaras,C. Chassanidis,Maria Samara,Nikolaos Vamvakopoulos,Milena Radmilovic,Sonja Pavlovic,Manoussos N. Papadakis,George P. Patrinos +8 more
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Phenotypic diversity in beta-HbE thalassemia patients
Pustika Amalia Wahidiyat,Djajadiman Gatot,Tenny Tjitrasari,Harapan Parlindungan Ringoringo,N S Marzuki,R A Taufani,Iswari Setianingsih,Alida Harahap +7 more
TL;DR: Beta-HbE thalassemia patients with identical beta-thalassemia mutation (IVS1-nt5) show remarkable clinical diver- sity, and neither two alpha-gene deletion, nor the Xmn1- G γ polymor- phism can explain the phenotypic variation.
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Novel and innovative approaches to the treatment of β-thalassemia
TL;DR: Even though the future looks promising, carefully designed clinical trials in adults and children, with suitable end-points are still needed to confirm the efficacy, toxicity, and improvements in quality of life of patients with β-thalassemia.
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Fat-Soluble Antioxidant Vitamins, Iron Overload and Chronic Malnutrition in β-Thalassemia Major
TL;DR: This study shows that children with β-thalas-semia major are in a state of oxidative stress of hyperfer-ritinemia with deprived antioxidant vitamins (A and E) and poor growth status suggesting a possible need for reduction in iron overload and additional antioxidant supplementation.
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Hemoglobins F, A2 , and E levels in Laotian children aged 6-23 months with Hb E disorders: Effect of age, sex, and thalassemia types.
Benchawan Kingchaiyaphum,Kanokwan Sanchaisuriya,Goonnapa Fucharoen,Attawut Chaibunruang,Sonja Y. Hess,Guy-Marino Hinnouho,Maxwell A. Barffour,Kimbery R. Wessells,Sengchanh Kounnavong,Supan Fucharoen +9 more
TL;DR: The levels of Hbs F, A2, and E in children aged 6‐23 months are determined and the effect of age, sex, and types of thalassemia on the expression of these Hbs are investigated.
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