Effect of genetic modifiers on the clinical severity of β-thalassemia
Received date: 2019-05-13
Revised date: 2019-07-29
Online published: 2019-08-05
Supported by
Supported by the National Key Research and Development Program of China(2018YFA0507803);The National Natural Science Foundation of China(81870148)
β-thalassemia (β-thal) is a fatal and disabling inherited blood disorder with diverse phenotypes. The same or similar genotype of β-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 β-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 β-globin cluster cis-acting elements were introduced emphatically. Finally, clinical applications and future development prospects of β-thal genetic modifiers are introduced by examples.
Key words： β-thalassemia; fetal hemoglobin; genetic modifier effects; gene editing
Qianqian Zhang,Xuan Shang,Wanying Lin,Xiangmin Xu . Effect of genetic modifiers on the clinical severity of β-thalassemia[J]. Hereditas(Beijing), 2019 , 41(8) : 669 -676 . DOI: 10.16288/j.yczz.19-131
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