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Molecular basis of a high Hb A(2)/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction with α-globin gene triplication

BACKGROUND: β(0)-thalassemia deletion removing 5´β-globin promoter usually presents phenotype with high hemoglobin (Hb) A(2) and Hb F levels. We report the molecular characteristics and phenotype-genotype correlation in a large cohort of the β(0)-thalassemia with 3.4 kb deletion. METHODS: A total of...

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Detalles Bibliográficos
Autores principales:	Soontornpanawet, Chayada, Singha, Kritsada, Srivorakun, Hataichanok, Tepakhan, Wanicha, Fucharoen, Goonnapa, Fucharoen, Supan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	PeerJ Inc. 2023
Materias:	Biochemistry
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10163868/ https://www.ncbi.nlm.nih.gov/pubmed/37159832 http://dx.doi.org/10.7717/peerj.15308

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