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An Aγ-globin G->A gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production.

Giulia BreveglieriNicoletta BianchiLucia Carmela CosenzaMaria Rita GamberiniFrancesco ChiavilliCristina ZuccatoGiulia MontagnerMonica BorgattiIlaria LamprontiAlessia FinottiRoberto Gambari
Published in: BMC medical genetics (2017)
As a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G->A) genotype is frequently under genetic linkage with β0-thalassemia mutations, but not with the β+-thalassemia mutation here studied (i.e. β+IVSI-110) and that this genetic combination has been selected within the population of β0-thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G->A) polymorphism of the Aγ-globin gene associated in β039 thalassemia patients with high HbF in erythroid precursor cells.
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