影响β-地中海贫血表型的遗传修饰作用

doi:10.16288/j.yczz.19-131

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Hereditas(Beijing) ›› 2019, Vol. 41 ›› Issue (8): 669-676.doi: 10.16288/j.yczz.19-131

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Effect of genetic modifiers on the clinical severity of β-thalassemia

Qianqian Zhang,Xuan Shang,Wanying Lin,Xiangmin Xu()

Department of Medical Genetics, Southern Medical University, Guangzhou 510800, China

Received:2019-05-13 Revised:2019-07-29 Online:2019-08-20 Published:2019-08-05
Contact: Xu Xiangmin E-mail:xixm@smu.edu.cn
Supported by:
Supported by the National Key Research and Development Program of China(2018YFA0507803);The National Natural Science Foundation of China(81870148)

Abstract

Abstract:

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.

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