HBG2 and HBG1 Nucleotide Substitutions and Hbf Production in Thalassemia Patients | Biomedgrid

HbF represents the main hemoglobin fraction during fetal life. After birth, the synthesis of HbF decreases gradually and is replaced by HbA so that HbF levels are less than 2% in adults. During adulthood, HbF may be slightly or significantly elevated because of pathological or nonpathological causes such as HPFH. This status is caused either by fetal globin gene promoter variants or large deletions affecting the human fetal globin genes. In thalassemia, an increase in HbF is linked to β-thalassemia major, δβ-thalassemia or thalassemia intermedia and improves the clinical picture as γ globin chains compensate for the lack of functional β- globin chains. The degree of HbF persistence varies greatly among adults and is largely genetically controlled. Research of causes that induce the expression of γ globin gene can impact the definition of clinical condition, as well as provide potential targets for treatment of hemoglobinopathy, as an increase in HbF production ameliorates β-thalassemia severity. In this report we present full DNA analysis of both HBG2 and HBG1 genes in a cohort of 96 β- and/or α-thalassemia subjects with high HbF levels and 30 healthy individuals to update the list of HPFH polymorphisms.