Rapid molecular identification of a rare β-globin gene deletion & its clinical implication

Rapid molecular identification of a rare β-globin gene deletion & its clinical implication

Bibliographic Details
Main Authors:	Priya Hariharan, Pratibha Sawant, Jayesh Sheth, Anita Nadkarni
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2022-01-01
Series:	Indian Journal of Medical Research
Online Access:	http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2022;volume=155;issue=3;spage=432;epage=437;aulast=Hariharan

Similar Items

Role of novel and rare nucleotide substitutions of the β-globin gene
by: Margherita Vinciguerra, et al.
Published: (2012-11-01)

Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families
by: Xiuqin Bao, et al.
Published: (2023-12-01)

A silent deletion in the beta-globin gene cluster.
by: Tate, V, et al.
Published: (1986)

Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia
by: Guoxing Zhong, et al.
Published: (2022-09-01)

Understanding α-globin gene regulation and implications for the treatment of β-thalassemia
by: Mettananda, S, et al.
Published: (2016)

Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management
by: Joanne Traeger-Synodinos, et al.
Published: (2024-03-01)

Molecular characterisation of β-globin gene mutations in Penang and Kedah, Malaysia
by: Kho, Siew Leng, et al.
Published: (2014)

Editing the core region in HPFH deletions alters fetal and adult globin expression for treatment of β-hemoglobinopathies
by: Vigneshwaran Venkatesan, et al.
Published: (2023-06-01)

Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population
by: Xiuqin Bao, et al.
Published: (2023-04-01)

Role of microRNA in hydroxyurea mediated HbF induction in sickle cell anaemia patients
by: Neha Kargutkar, et al.
Published: (2023-01-01)

The chromatin "landscape" of a murine adult β-globin gene is unaffected by deletion of either the gene promoter or a downstream enhancer.
by: Brenda Cadiz-Rivera, et al.
Published: (2014-01-01)

β-Globin Gene Cluster Haplotypes in Iranian Patients with β-Thalassemia
by: Rahimi Z., et al.
Published: (2005-09-01)

β-Globin Gene Cluster Haplotypes in Iranian Patients with β-Thalassemia
by: Z Rahimi, et al.
Published: (2005-09-01)

Molecular cloning of human epsilon-globin gene.
by: Proudfoot, N, et al.
Published: (1979)

Detection of Rare Beta Globin Gene Mutations in Northwestern Iran
by: M Haghi, et al.
Published: (2007-04-01)

Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome.
by: Steensma, D, et al.
Published: (2004)

The evolution of the α- and β-globin gene clusters in human populations
by: Hill, A, et al.
Published: (1986)

Ameliorating β-thalassaemia by manipulating expression of the α-globin gene
by: Mettananda, S
Published: (2015)

Prenatal Diagnosis of Different Polymorphisms of β-globin Gene in Ahvaz
by: Ali Dehghanifard, et al.
Published: (2013-06-01)

Prenatal Diagnosis of different Polymorphisms of β-globin Gene in Ahvaz
by: Ali Dehghanifard, et al.
Published: (2013-04-01)

Molecular rearrangements of the human alpha-globin gene cluster.
by: Higgs, D, et al.
Published: (1985)

Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster
by: Giovanna Cardiero, et al.
Published: (2023-01-01)

Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population.
by: Gallienne, A, et al.
Published: (2009)

A 16.5 kb deletion in the alpha globin cluster associated with an extremely mild phenotype
by: Rugless, M, et al.
Published: (2007)

Deletion of the mouse alpha globin regulatory element (HS-26) has an unexpectedly mild phenotype.
by: Anguita, E, et al.
Published: (2003)

Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype.
by: Anguita, E, et al.
Published: (2002)

Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.
by: Hatton, C, et al.
Published: (1990)

GEOGRAPHIC-DISTRIBUTION OF ALPHA-GLOBIN AND BETA-GLOBIN GENE-CLUSTER POLYMORPHISMS
by: Wainscoat, J, et al.
Published: (1989)

Impact of annotation error in α-globin genes on molecular diagnosis.
by: J Francis Borgio
Published: (2017-01-01)

Synergistic silencing of α-globin and induction of γ-globin by histone deacetylase inhibitor, vorinostat as a potential therapy for β-thalassaemia
by: Mettananda, S, et al.
Published: (2019)

β globin mutations in Turkish, Northern Iraqi and Albanian patients with β thalassemia major
by: Veysel Sabri Hancer, et al.
Published: (2018-06-01)

Hemoglobin Agenogi - A rare abnormal beta globin chain variant
by: Sunita Sharma, et al.
Published: (2016-01-01)

Identification of two novel β-globin gene mutations HBB: exon3del, HBB: c.−81A>C
by: YaXuan Cao, et al.
Published: (2023-12-01)

Epigenetic Regulation of β-Globin Genes and the Potential to Treat Hemoglobinopathies through Epigenome Editing
by: Letizia Fontana, et al.
Published: (2023-02-01)

Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: a case report
by: Waseem Chauhan, et al.
Published: (2022-10-01)

A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element.
by: Viprakasit, V, et al.
Published: (2006)

Characterisation of beta globin gene cluster deletions using multiplex-Gap-PCR and Multiplex Ligation-dependent Probe Amplification (MLPA)
by: Redzuwan, Yasmin Mohamad
Published: (2018)

Molecular basis of a high Hb A2/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction with α-globin gene triplication
by: Chayada Soontornpanawet, et al.
Published: (2023-05-01)

Hepatitis B Virus Pre-S Gene Deletions and Pre-S Deleted Proteins: Clinical and Molecular Implications in Hepatocellular Carcinoma
by: Yueh-Te Lin, et al.
Published: (2021-05-01)

The effect of ferritin level and gene expression of β-globin promoter with β-thalassemia patients in al-qadisiyah governorate, Iraq
by: Mayssam Makki Salih, et al.
Published: (2023-01-01)