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[Effect of genetic modifiers on the clinical severity of ß-thalassemia].
Yi Chuan ; 41(8): 669-676, 2019 Aug 20.
Artigo em Chinês | MEDLINE | ID: mdl-31447418
ß-thalassemia (ß-thal) is a fatal and disabling inherited blood disorder with diverse phenotypes. The same or similar genotype of ß-thal can manifest variable clinical severities. It is the hotspot and emphasis in the field of hematopathy and genetic diseases to explore genetic modifiers that influence the phenotype of ß-thal. This review illustrates the deteriorating and amelioratig modifiers from two aspects: genotypes of α-globin and quantitative trait locus of fetal hemoglobin (Hb F). Variations of transcription factors which reactive the γ-globin gene expression and ß-globin cluster cis-acting elements were introduced emphatically. Finally, clinical applications and future development prospects of ß-thal genetic modifiers are introduced by examples.
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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Talassemia beta Limite: Humanos Idioma: Chinês Revista: Yi Chuan Assunto da revista: Genética Ano de publicação: 2019 Tipo de documento: Artigo País de afiliação: China