Modifiers of γ-Globin Gene Expression and Treatment of β-Thalassemia

Munshi, Anjana; Dadeech, Sneha; Babu, M. Sai; Khetarpal, Preeti

doi:10.5772/61441

Cited by 3 publications

(3 citation statements)

References 202 publications

(211 reference statements)

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“…Thus, this selective survival might account for high levels of HbF in homozygous β-thalassemia. The presence of genetic variants continues to produce HbF, hence it has a strong influence on the clinical feature of development [12]. Higher levels of expression of HbF in adulthood have been suggested to improve the morbidity and mortality in sickle cell disease (SCD).…”

Section: Molecular Diagnosis Of β-Thalassemiamentioning

confidence: 99%

“…Promising key molecules such as KLF1 and BCL11A for therapeutic efforts aimed at increased HbF level have been determined; however, further preclinical data are necessary before manipulation of transcription factors can be translated into therapeutic choices. According to some study groups, significant advances in the field by defining mechanisms through which BCL11A repressed γ-globin expression hold promise for the development of genome-based therapy in the future [12].…”

Section: Introductionmentioning

confidence: 99%

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The Genetic Aspect of Thalassemia: From Diagnosis to Treatment

Aldemir¹

2018

Thalassemia and Other Hemolytic Anemias

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Hemoglobinopathies are a group of red blood cell productivity disorders, including α-thalassemia, β-thalassemia, and sickle cell disease (SCD), that are autosomal recessive and very common in Mediterranean, Middle Eastern, East Asian, and African countries. Thalassemia presents with the following clinical signs and symptoms: fatigue, weakness, yellowish skin, facial bone deformities, and abdominal swelling. Genetic studies have successfully characterized the key variants and pathways involved in hemoglobin F (HbF) regulation, providing new therapeutic targets for HbF reactivation. According to the current literature, using lentivirus vector for gene therapy and genome-editing-based treatment strategies for β-thalassemia and SCD have been discussed and well documented. According to current studies, novel treatments are becoming more important for thalassemia patients, because the consequences of supportive treatments are not sufficient for patients and their families. Supportive treatment does not have a positive effect on the survival rate of β-thalassemia patients. New treatments are empowering to develop develop a gene therapy for β-thalassemia and include pharmacological or disruption of BCL11A erythroid enhancer by CRISPR-CAS9 technology in addition to zinc-finger or transcription activator-like effector nuclease, and attempts at repairing the defective β-globin gene in hematopoietic stem cells by genome editing. These approaches are needed to improve for being more successful; gene addition has the advantage of making use of a single product applicable to all cases of β-thalassemia.

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Section: Molecular Diagnosis Of β-Thalassemiamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Genetic Aspect of Thalassemia: From Diagnosis to Treatment

Aldemir¹

2018

Thalassemia and Other Hemolytic Anemias

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“…Recently, scientists have conducted many studies to identify the natural remedies that could possibly be applied for the treatment of β-thalassemia (Table 2) [176]. Several studies have found that the extracts from medicinal plants for biomedical purposes [177][178][179][180][181][182][183][184][185][186] including therapeutic strategies can be used for the treatment of a number of diseases.…”

Section: Natural Inducersmentioning

confidence: 99%

Inherited Hemoglobin Disorders

Munshi¹

2015

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Homozygous Mutation on the β-Globin Polyadenylation Signal in a Tunisian Patient with β-Thalassemia Intermedia and Coinheritance of Gilbert’s Syndrome

et al. 2017

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We report here the clinical, hematological and molecular data in a 50-year-old patient with β-thalassemia intermedia (β-TI) caused by a homozygous β mutation on the β-globin gene polyadenylation (polyA) signal (AATAAA>AAAAAA). β Haplotype analysis was accomplished by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Haplotype and framework analysis showed that this mutation is associated with the [- - - - + + +] β haplotype and framework 1 (CCGCT) (FW1). This mutation was previously reported in the heterozygous state in association with the codon 9 (+TA) mutation in a β-TI patient originating from Tunisia. To the best of our knowledge, this is the first report describing this mutation in the homozygous state. The case reported here, coinherited Gilbert's syndrome, which is characterized by hyperbilirubinemia. This conclusion was reached by the investigation of the promoter region [A(TA)TAA] motif of the UGT1A1 gene, showing the (TA)/(TA) genotype.

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Modifiers of γ-Globin Gene Expression and Treatment of β-Thalassemia

Cited by 3 publications

References 202 publications

The Genetic Aspect of Thalassemia: From Diagnosis to Treatment

The Genetic Aspect of Thalassemia: From Diagnosis to Treatment

Inherited Hemoglobin Disorders

Homozygous Mutation on the β-Globin Polyadenylation Signal in a Tunisian Patient with β-Thalassemia Intermedia and Coinheritance of Gilbert’s Syndrome

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