• Analysis of gene defects with advanced molecular biology techniques in patients with a variety of disorders have revealed numerous new and known mutations in DNA.

• The data will serve to provide diagnostic services, prevention among couples at risk, contribute to an understanding of gene control mechanisms and movements of populations.

Major Single Gene Disorders

Haemoglobinopathies in the Maltese Population

•  b-thalassaemia is common in the Mediterranean region. Therefore it is not surprising that 1.8% of the Maltese population have b-thalassaemia. On the other hand a-thalassaemia is rare in the Maltese population. Generally a population has a handful of specific thalassaemia mutations. The b-thalassaemia mutations found in the Maltese have been characterised. Besides, 2% of the Maltese have a benign globin variant: 1.8% have Hb F Malta I, which is linked to Hb Valletta and 0.2% have an a-globin variant. Hb St Luke’s and Hb Setif are the two a-globin variants that have been found in the Maltese.

Genetic epidemiology of diseases in the Maltese population