Service related research programs

• Studies on the molecular basis of different forms of thalassaemia in Cyprus and other neighbouring countries.
• Determination of the frequencies of the different forms of thalassaemia

• Standardization of simple methods for the identification of thalassaemia mutations

Genotype/phenotype correlation studies in thalassaemia

• Genotype/phenotype correlation studies in thalassaemia intermedia patients and determination of the genetic factors responsible for ameliorating the clinical condition of beta-thalassaemia patients.
• Genotype/phenotype correlation studies in HbH disease patients

• Genotype/phenotype correlation studies in carriers of thalassaemia traits

Drug therapy for thalassaemia

The aim of the project is to find compounds that increase the level of foetal haemoglobin and can be used for thalassaemia treatment.

• A large number of compounds are examined and their effect on the level of foetal haemoglobin is determined. New medicinal products will be developed.

• The effect of a number of drugs on the reactivation of foetal haemoglobin is examined. Groups of patients receiving each drug are examined and the values for a number of parameters (FBC, HbS levels, HbF, F cells, mRNA and others) are determined.

Development of a diagnostic chip for thalassaemia

The aim of this work is the introduction of a large number of mutations/polymorphisms of the beta globin locus on a chip and the subsequent validation of the chip as a diagnostic tool. This work is carried out in the course of the Framework program 5 (FP5) EUMEDIS.

Non-Invasive Prenatal Diagnosis for Thalassaemia (NIPD)

The aim of the project is to determine whether the analysis of cell-free foetal DNA detected in the maternal blood can be used for the reliable determination of foetal single gene disorders, especially for haemoglobinopathies. This work is carried our in the course of the Framework Program 6 (FP6) SAFE.

Globin expression studies

The aim of this project is to streamline and standardise a number of expression systems to expedite studies of potential globin mutants/variants identified by the department.

Ithanet - Electronic infrastructure for thalassaemia research network

Ithanet is a Euromediterranean network of research centres conducting molecular and clinical research on thalassaemia and related haemoglobinopathies. The consortium of Ithanet comprises all major European research institutions active in the field and a number of collaborating partner institutions from non-EU
Mediterranean and Black-Sea countries. Ithanet associates 25 partners from 16 countries, including scientific and medical communities, patients and their families, and patient associations.
Ithanet aims to strengthen research and treatment of haemoglobinopathies by:

• creating an inclusive research environment
• promoting common research strategies and resources
• facilitating the dissemination of research results
• improving quality and availability of health care services

The CING Thalassaemia Department is the coordinating partner of Ithanet, and a member of the Steering Committee.

Identification of beta-thalassaemia mutations in ancient skeletal remains

The aim of this project is the molecular analysis of skeletal remains found in 12th-16th century AD graves in an  archaeological site in old Nicosia . Osteological examination of a number of infant remains, identified specimens which exhibit skeletal malformations typical to untreated thalassaemic children. The results of this study will give valuable information on the history of thalassaemia in Cyprus .