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Correlation of variants in regulatory regions of γ-globin genes and KLF1 with high levels of fetal hemoglobin in adults (Bachelor thesis)

Καραμήτσου, Κωνσταντίνα/ Karamitsou, Konstantina

Fetal hemoglobin (HbF) is a protein expressed in low levels in adults. On the contrary, Hereditary Persistence of Fetal Hemoglobin (HPFH) is a syndrome characterized by high levels of HbF, which can be beneficial for its carriers, if they suffer from beta-hemoglobinopathy. In this diploma thesis, the analysis of the regulatory elements of gamma-globin genes and KLF1 for potential mutations, in samples of individuals with both normal and elevated levels of HbF, is presented. The HPFH samples derive from the same family and the results from their analysis can be correlated to their phenotype. The results of the study of the rest samples are compared to those of a matching population from genomic databases. The experimental procedure consists of PCR reactions for the targeted regions, with PCR products sent for Sanger sequencing. The results of this analysis can be useful for ameliorating the symptoms of people suffering from beta-hemoglobinopathies.