UNIVERSITY OF MALTA RESEARCH SEMINARS Abstract form Title: Genetics and Therapeutics of Foetal Haemoglobin in Thalassaemia Presenter: Prof Alex E Felice Contact address: Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida MSD 06, Malta Tel: (+356)23402774 Fax: (+356)21343535 Email: [email protected] Presentation date: Monday 1st November 2004 Abstract (approximately 200-250 words) Haemoglobin heterogeneity in human erythrocytes is due to tight developmental control of alternate globin gene expression. The perinatal transition of γ-globin to β-globin biosynthesis with HbA (or α2β2) largely replacing HbF (or α2γ2) is likely to be regulated by interplay between a number of “cis-acting” DNA sequences including the XmnI site, 5’ to the γ globin gene. Data on HbF Malta I heterozygotes and homozygotes and β-thalassaemia G homozygotes or double heterozygotes suggested differential regulation at this site, influencing the number of F-erythrocytes and the HbF/F-erythrocyte. The genetic interactions are subject to pharmacological control in sickle cell disease and β-thalassaemia. New data regarding effects of hydroxyurea on γ-globin gene expression will be presented.