Journal ArticleDOI
Association Between Genetic Polymorphisms and Hb F Levels in Heterozygous β-Thalassemia 3.5 kb Deletions.
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TLDR
This study is the first to demonstrate that the rs4895441, rs9399137 of HMIP are associated with elevated Hb F levels in the heterozygous β-thal 3.5 kb deletion.Abstract:
Single nucleotide polymorphisms (SNPs) in several genetic modifying factors have been related to Hb F levels, including Gγ XmnI polymorphism, B-cell lymphoma/leukemia 11 A (BCL11A), HBS1L-MYB inter...read more
Citations
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Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population
TL;DR: Wang et al. as mentioned in this paper investigated a new approach of comprehensive analysis of thalassemia alleles based on third-generation sequencing (TGS) for identification of α- and β-globin gene variants.
Journal ArticleDOI
Identification and Functional Analysis of Known and New Mutations in the Transcription Factor KLF1 Linked with β-Thalassemia-like Phenotypes
Rosa Catapano,Raffaele Sessa,Silvia Trombetti,Elena Cesaro,Paola Izzo,A. Maki,Michela Grosso +6 more
TL;DR: In this paper , two novel KLF1 haploinsufficiency mutations that result in enhanced fetal-globin gene expression, C94X and P173fxP236, are described and functionally characterized.
Journal ArticleDOI
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
Chayada Soontornpanawet,Kritsada Singha,Hataichanok Srivorakun,Wanicha Tepakhan,Goonnapa Fucharoen,Supan Fucharoen +5 more
TL;DR: In this article , the authors reported the molecular characteristics and phenotype-genotype correlation in a large cohort of β0-thalassemia with 3.4 kb deletion and α-globin gene triplication.
References
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Journal ArticleDOI
Inherited haemoglobin disorders: an increasing global health problem.
TL;DR: It takes considerable time to establish expertise in developing programmes for the control and management of these conditions, and the lessons learned in developed countries will need to be transmitted to those countries in which they occur at a high frequency.
Journal ArticleDOI
Phenotype—genotype relationships in monogenic disease: lessons from the thalassaemias
TL;DR: Findings in the β-thalassaemias highlight the problems that might be encountered in defining the relationship between the genome and the environment in multifactorial disorders, in which the degree of heritability might be relatively low and several environmental agents are involved.
Journal ArticleDOI
DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
Guillaume Lettre,Vijay G. Sankaran,Marcos André Cavalcanti Bezerra,Aderson S Araujo,Manuela Uda,Serena Sanna,Antonio Cao,David Schlessinger,Fernando Ferreira Costa,Joel N. Hirschhorn,Stuart H. Orkin +10 more
TL;DR: Genotyping additional BCL11A SNPs, HBS1L-MYB SNPs and an SNP upstream of Gγ-globin (HBG2; the XmnI polymorphism) provided a clear example of inherited common sequence variants modifying the severity of a monogenic disease.
Journal ArticleDOI
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
Stephan Menzel,Chad Garner,Ivo Gut,Fumihiko Matsuda,Masao Yamaguchi,Simon Heath,Mario Foglio,Diana Zelenika,Anne Boland,Helen Rooks,Steve Best,Tim D. Spector,Martin Farrall,G. Mark Lathrop,Swee Lay Thein,Swee Lay Thein +15 more
TL;DR: A genome-wide association mapping strategy is applied to individuals with contrasting extreme trait values and a new F cell quantitative trait locus is mapped to BCL11A, which encodes a zinc-finger protein, on chromosome 2p15.
Journal ArticleDOI
Transcriptional silencing of γ-globin by BCL11A involves long-range interactions and cooperation with SOX6
Jian Xu,Vijay G. Sankaran,Min Ni,Min Ni,Tobias F. Menne,Rishi V. Puram,Woojin Kim,Stuart H. Orkin,Stuart H. Orkin +8 more
TL;DR: In this article, the authors determine chromatin occupancy of BCL11A at the human b-globin locus and other genomic regions in vivo by high-resolution chromatin immunoprecipitation (ChIP)chip analysis.