Overview

The Thalassaemia Laboratory of the Cyprus Institute of Neurology and Genetics was established in 1990. Since then, and in close collaboration with a team of specialised doctors and laboratory personnel at the Thalassaemia Centre, we have been an integral part of the national thalassaemia prevention programme in Cyprus.

When the laboratory was first established, our effort was to provide prenatal diagnosis of thalassaemia by molecular techniques to all Cypriot couples at risk, as well as to couples from neighbouring countries. The various forms of haemoglobinopathies arise from a large number of mutations, and Cyprus has a high incidence of α- and β-thalassaemia and of other haemoglobinopathies. Ever since its inception, our laboratory has therefore been expanding its diagnostic services to include advanced molecular techniques for the identification of novel mutations and to detect a large range of known thalassaemia defects. In consequence, we can now offer routine molecular diagnosis for most forms of thalassaemia and have successfully established our laboratory as a reference centre in the field. Over and above our interest in the thalassaemias, our laboratory offers molecular diagnosis for several other inherited diseases. To download the paper The Thalassaemias, which also includes a summary of diagnostic services offered by our group, please click here.

Alongside it diagnostic work, our group follows several lines of research of the thalassaemias, including the development of non-invasive diagnostic approaches and the identification and improvement of therapeutic agents, such as inducers of fetal haemoglobin. Our group endeavours to establish a national research and treatment programme for the gene therapy of thalassaemia in concert with national and international partners, and actively collaborates with various governmental and other services in Cyprus, as well as with centres in other countries, to strengthen its role in research and diagnosis. The international orientation of the Thalassaemia Laboratory is most apparent from its leading role in the Euro-mediterranean ITHANET project and its development and maintenance of the ITHANET Portal and associated resources for haemoglobinopathy diagnosis, research and treatment.