The research progress on β-thalassemia modifier genes

Le résumé fourni par la source

Previous studies showed that β-thalassemia is a monogenic disease caused by β-globin gene mutations.The epidemiological and genetic research have found that β-thalassemia has significant genetic and phenotypic heterogeneity,which imply the possibility of other latent pathopoiesis genes,in addition to the β-globin gene (HBB gene ). Latest researches put forward the notion of β-thalassemia modifier genes.They can influence the expression,synthesis and stability of globin,and thus affect the balance of α and non-α globin chains.Modifier genes and their gene polymorphism are associated with the clinical phenotypes and deserve further investigation.New findings should be helpful to the understanding of etiology and mechanisms of the β-thalassemia,offer more potential therapeutic target genes,and provide a guidance to clinical medicine,gene therapy and personalized medicine. Key words: β-thalassemia; Modifier genes

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.