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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Book ChapterDOI
Disorders of Hemoglobin: Genetic Modulation of Sickle Cell Disease and Thalassemia
TL;DR: This chapter discusses fetal hemoglobin (HbF) and the genetic elements and genes that might modulate its levels and then the effects of α thalassemia in sickle cell disease and β thAlassemia.
Journal ArticleDOI
Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR)
TL;DR: An assay that detects both point mutations and larger rearrangements of the HBB gene is developed, which is quick, sensitive, specific and cost effective making it suitable as an initial screening test that can be used for highly heterogeneous cohorts.
Journal ArticleDOI
Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient.
Mahdi Muhammad Moosa,Mustak Ibn Ayub,Ama Emran Bashar,Golam Sarwardi,Waqar Ahmed Khan,Haseena Khan,Sabina Yeasmin +6 more
TL;DR: The literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression, and the presence of a putative binding site for Egr 1, a transcription factor, within the HBB: −92 region.
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Spectrum of β-Globin Gene Mutations and β-Thalassemia Haplotype Analysis among the Iranian Azeri Turkish Population
Sima Mansoori Derakhshan,Aziz Khorrami,Abbasali Hosseinpour Pour Feizi,Mahmoud Shekari Khaniani +3 more
TL;DR: Haplotype study results (heterozygosity and PIC) clarifies β-globin markers usefulness for tracking mutant alleles as a complementary method to confirm the genotype in prenatal diagnosis (PND) among investigated population.
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Screening of Transcription Factors Involved in Fetal Hemoglobin Regulation Using Phylogenetic Footprinting.
Gisele Cristine de Souza Carrocini,Larissa Paola Rodrigues Venancio,Claudia Regina Bonini-Domingos +2 more
TL;DR: The understanding of genetic elements involved in the maintenance of high Hb F levels may provide new efficient therapeutic strategies in the beta-hemoglobinopathies treatment, promoting reduction in clinical complications of these genetic disorders.
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