Professor Joseph Borg has made an oral poster presentation on behalf of the Haemoglobin Research Group at the University of Malta and Mater Dei Hospital during the annual meeting of the American Society of Haematology that was held online.

The authorship included post-doctoral fellow Dr Laura Grech, Staff Scientist Ms Ruth Galdies, Clinical Nurse Ms Carmen Attard, and Genetics Consultant Professor Christian A. Scerri together with Professor Sjaak Phillipsen from the Erasmus Medical Centre, Rotterdam The Netherlands and Professor Alex Felice of this University.

The presentation was entitled "Genetic Heterogeneity of KLF1, a Master Regulator of Erythropoiesis, Revealed an Autosomal Recessive Ψβ-Thalassaemia and a Very Strong Promoter In Vivo." 

It dealt with critical and important genetic loci that control and regulate levels of human foetal haemoglobin under normal and perturbed erythropoiesis.

The research highlighted the importance of combined variant genetic loci and their role in augmenting levels of foetal haemoglobin in vivo. In turn, the findings may hold promise for the design of treatment modalities aimed at β-Thalassaemia and related haemoglobinopathies. 

The University of Malta has a long tradition of research on human haemoglobin and the rare blood disease known as Thalassaemia. Professor Frank Vella (Saskatchewan, Canada) was a pioneer of haemoglobin research. The clinical work of Dr Cachia and Dr Agius Ferrante in Paediatrics was followed by the contributions of Professor Joe Louis Grech and Professor Maurice Cauchi in the Department of Pathology and Professor WH Bannister in the Department of Physiology and Biochemistry, Faculty of Medicine and Surgery.

The thalassaemia project was developed jointly between the University of Malta and the Malta Department of Health.

Professor Alex Felice in the Department of Physiology and Biochemistry, Faculty of Medicine and Surgery pursued the research that led to the discovery of other haemoglobin variants as well as the β-globin gene mutation of the Maltese thalassaemia.

Professor Christian Scerri who now runs the Thalassaemia Clinic at Mater Dei Hospital and Professor Borg who runs the Haemoglobin research read for their Ph.D. degrees in Professor Felice’s laboratory under his academic supervision.

The team developed the clinical and testing program that led to the uncovering of the role of KLF1 as a master regulator of red blood cell and Haemoglobin physiology while providing high quality testing and clinical services for patients and families.

The paper may be read online.