Cargando…

Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia

Background: Thalassemia was the most common monogenic diseases worldwide, which was caused by mutations, deletions or duplications in human globin genes which disturbed the synthesis balance between α- and β-globin chains of hemoglobin. There were many classics methods to diagnose thalassemia, but a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhong, Guoxing, Zhong, Zeyan, Guan, Zhiyang, Chen, Dina, Wu, Zhiyong, Yang, Kunxiang, Chen, Dan, Liu, Yinyin, Xu, Ruofan, Chen, Jianhong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511401/ https://www.ncbi.nlm.nih.gov/pubmed/36171890 http://dx.doi.org/10.3389/fgene.2022.984996

Ejemplares similares

DNA methylation patterns of β-globin cluster in β-thalassemia patients
por: Bao, Xiuqin, et al.
Publicado: (2020)

β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain
por: Ropero, Paloma, et al.
Publicado: (2022)

β-Globin chain abnormalities with coexisting α-thalassemia mutations
por: Guvenc, Birol, et al.
Publicado: (2012)

Coordinated β-globin expression and α2-globin reduction in a multiplex lentiviral gene therapy vector for β-thalassemia
por: Nualkaew, Tiwaporn, et al.
Publicado: (2021)

Reciprocal regulation of γ-globin expression by exo-miRNAs: Relevance to γ-globin silencing in β-thalassemia major
por: Sun, Kuo-Ting, et al.
Publicado: (2017)

Spectrum of Beta Globin Gene Mutations in Egyptian Children with β-Thalassemia
por: El-Shanshory, MR, et al.
Publicado: (2014)

CRISPR/Cas9-mediated β-globin gene knockout in rabbits recapitulates human β-thalassemia
por: Yang, Yi, et al.
Publicado: (2021)

The phenomena of balanced effect between α-globin gene and of β-globin gene
por: Zhong, Liangying, et al.
Publicado: (2018)

Prevalence of β(S)-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil
por: Shimauti, Eliana LitsukoTomimatsu, et al.
Publicado: (2015)

PB2238: ΒETA-THALASSEMIA INTERMEDIA: INTERACTION OF ΑLPHA-GLOBIN GENE TRIPLICATION WITH ΒETA-THALASSEMIA HETEROZYGOUS IN SPAIN
por: Ropero, P., et al.
Publicado: (2022)

Distribution of β-Globin Gene Mutations in Thalassemia Minor Population of Kerman Province, Iran
por: Saleh-Gohari, N, et al.
Publicado: (2010)

Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia
por: Steinberg-Shemer, Orna, et al.
Publicado: (2017)

Rapid molecular diagnostics of large deletional β(0)-thalassemia (3.5 kb and 45 kb) using colorimetric LAMP in various thalassemia genotypes
por: Tepakhan, Wanicha, et al.
Publicado: (2021)

SOX6 Downregulation Induces γ-Globin in Human β-Thalassemia Major Erythroid Cells
por: Li, Jing, et al.
Publicado: (2017)

Investigation of RFLP Haplotypes β-Globin Gene Cluster in Beta-Thalassemia Patients in Central Iran
por: Sajadpour, Zahra, et al.
Publicado: (2019)

Biochemical and molecular analysis of the beta-globin gene and LCR region on Saudi β-thalassemia patients
por: Alafari, Hayat, et al.
Publicado: (2020)

An Aγ-globin G->A gene polymorphism associated with β(0)39 thalassemia globin gene and high fetal hemoglobin production
por: Breveglieri, Giulia, et al.
Publicado: (2017)

The Frequency and Importance of Common α-globin Gene Deletions Among β-Thalassemia Carriers in an Iranian Population
por: Moosavi, Azam, et al.
Publicado: (2017)

Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia
por: Mettananda, Sachith, et al.
Publicado: (2017)

The Frequency and Importance of Common α-globin Gene Deletions Among β-Thalassemia Carriers in an Iranian Population
por: Moosavi, Azam, et al.
Publicado: (2018)

Induction of Fetal Hemoglobin by Introducing Natural Hereditary Persistence of Fetal Hemoglobin Mutations in the γ-Globin Gene Promoters for Genome Editing Therapies for β-Thalassemia
por: Lu, Dian, et al.
Publicado: (2022)

Targeted correction of a thalassemia-associated β-globin mutation induced by pseudo-complementary peptide nucleic acids
por: Lonkar, Pallavi, et al.
Publicado: (2009)

Effect of Cis Acting Potential Regulators in the β Globin Gene Cluster on the Production of HbF in Thalassemia Patients
por: Dabke, Pooja, et al.
Publicado: (2013)

Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China
por: Yuan, Yan, et al.
Publicado: (2023)

P1436: DEVELOPMENT OF A BETA-GLOBIN GENE REPLACEMENT STRATEGY AS A THERAPEUTIC APPROACH FOR ΒETA-THALASSEMIA
por: Wienert, B., et al.
Publicado: (2022)

Computational Analysis of Protein Structure Changes as a Result of Nondeletion Insertion Mutations in Human β-Globin Gene Suggests Possible Cause of β-Thalassemia
por: Qadah, Talal, et al.
Publicado: (2019)

Haplotype Analysis in Carriers of β-Globin Gene Mutation Facilitates Genetic Counseling in β-Thalassemia: A Cross-Sectional Study in Kerman Province, Iran
por: SALEH-GOHARI, Nasrollah, et al.
Publicado: (2020)

Efficient CRISPR-Cas9-based genome editing of β-globin gene on erythroid cells from homozygous β(0)39-thalassemia patients
por: Cosenza, Lucia Carmela, et al.
Publicado: (2021)

Analysis of rare thalassemia genetic variants based on third-generation sequencing
por: Peng, Cuiting, et al.
Publicado: (2022)

Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl
por: Panyasai, Sitthichai, et al.
Publicado: (2017)

Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β-Globin Gene with the IVSI-6 Thalassemia Mutation
por: Breveglieri, Giulia, et al.
Publicado: (2015)

Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis
por: Karnpean, Rossarin, et al.
Publicado: (2022)

Expression of γ-globin genes in β-thalassemia patients treated with sirolimus: results from a pilot clinical trial (Sirthalaclin)
por: Zuccato, Cristina, et al.
Publicado: (2022)

PB2532: VARIABLE HEMATOLOGICAL AND CLINICAL PHENOTYPES IN DOUBLE HETEROZYGOTES OF ΒETA-THALASSEMIA AND TRIPLICATED ΑLPHA-GLOBIN GENES
por: Delaporta, Polyxeni, et al.
Publicado: (2023)

Identification of rare thalassemia variants using third-generation sequencing
por: Liu, Qin, et al.
Publicado: (2023)

Loss of balancing selection in the βS globin locus
por: Salih, Niven A, et al.
Publicado: (2010)

5′HS5 of the Human β-globin Locus Control Region Is Dispensable for the Formation of the β-globin Active Chromatin Hub
por: Chan, Ping Kei, et al.
Publicado: (2008)

Molecular Characterization and Expression of α-Globin and β-Globin Genes in the Euryhaline Flounder (Platichthys flesus)
por: Lu, Weiqun, et al.
Publicado: (2011)

Single-cell polymerase chain reaction-based pre-implantation genetic diagnosis using fragment analysis for β-thalassemia in an Indian couple with β-globin gene mutations
por: Saxena, Shailaja Gada, et al.
Publicado: (2012)

Co-Treatment of Erythroid Cells from β-Thalassemia Patients with CRISPR-Cas9-Based β(0)39-Globin Gene Editing and Induction of Fetal Hemoglobin
por: Cosenza, Lucia Carmela, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_bqta20qhi8nf12qoagdl7q3hh8