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: alex.felice@um.edu.mt
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.