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

Yi Chuan. 2019 Aug 20;41(8):669-676. doi: 10.16288/j.yczz.19-131.
[Article in Chinese]

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.

Publication types

  • Review

MeSH terms

  • Fetal Hemoglobin / genetics
  • Genotype
  • Humans
  • Phenotype
  • Transcription Factors / genetics
  • alpha-Globins / genetics
  • beta-Globins / genetics
  • beta-Thalassemia / genetics*
  • gamma-Globins / genetics

Substances

  • Transcription Factors
  • alpha-Globins
  • beta-Globins
  • gamma-Globins
  • Fetal Hemoglobin