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
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Induction of therapeutic levels of HbF in genome-edited primary β039-thalassaemia haematopoietic stem and progenitor cells
Maura Mingoia,Cristian Antonio Caria,Lin Ye,Isadora Asunis,M Franca Marongiu,Laura Manunza,M Carla Sollaino,Jiaming Wang,Annalisa Cabriolu,Ryo Kurita,Yukio Nakamura,Francesco Cucca,Yuet Wai Kan,M. Giuseppina Marini,Paolo Moi +14 more
TL;DR: It is suggested that editing the region of HBG promoters around the −196 position has the potential to induce therapeutic levels of HbF in patients with most types of β‐thalassaemia irrespective of the β‐globin gene (HBB) mutations.
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β-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study.
TL;DR: The results indicate the importance of micromapping and epidemiology studies of thalassemia, which will assist in establishing the national prevention and control program in Turkey.
Journal ArticleDOI
A new β(0)-thalassemia mutation (codon 102, AAC>ATCAC) in coexistence with a heterozygous P4.2 Nippon gene.
Chris Adhiyanto,Yasuhiro Yamashiro,Yukio Hattori,Takenori Nitta,Minako Hino,Maryam Matar,Fumiya Takagi,Masafumi Kimoto +7 more
TL;DR: The red cell morphology revealed ovalocytosis and small numbers of stomatocytes that were seen in the hereditary spherocytosis (HS), especially by P4.2 mutations, and it is uncertain, but the presence of heterozygous P 4.2 Nippon may be associated with the exacerbation of the phenotype of β-thal minor.
Journal ArticleDOI
Relationship Between Some Single-nucleotide Polymorphism and Response to Hydroxyurea Therapy in Iranian Patients With β-Thalassemia Intermedia.
Mehran Karimi,Tahereh Zarei,Sezaneh Haghpanah,Mohamad Moghadam,Ahmad Ebrahimi,Narges Rezaei,Ghazaleh Heidari,Afsaneh Vazin,Maryam Khavari,Hamid R. Miri +9 more
TL;DR: None of the evaluated SNPs in this cross-sectional study showed significant association with HU response, and further larger studies and evaluation of other genes are suggested.
Journal ArticleDOI
Bilirubin concentrations in thalassemia heterozygotes in university students.
TL;DR: The aim is to investigate the difference of bilirubin concentrations between α‐ and β‐thalassemia carriers and the role of variation status in the UDP‐glucuronosyltransferase (UGT) 1A1 gene on such a difference.
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