Eradication of Thalassemia Syndromes is today feasible through the organization of prevention programs adjusted to the requirements of the respective population. These programs are based on the massive screening for the detection of couples at risk, the application of precise prenatal diagnosis in all risk pregnancies and termination of pregnancy in case of affected fetus. Prevention programs for eradication of thalassemia have already been applied successfully in Cyprus, Italy (particularly Sardinia) and Greece.

To increase effectiveness, these programs have to be modified to meet the diagnosis of hematological phenotypes and molecular defects prevailing in the population. To this end, appropriate hematological and biochemical methods have to be selected for precise diagnosis of heterozygote couples at risk, supplemented by the most applicable DNA technique to identify the molecular defects. Selection of methodology for DNA analysis for precise prenatal diagnosis, is related to the type and prevalence of mutations in the population. In Greece with an extreme genetic heterogeneity of β andα thalassemias a combination of methods for DNA analysis is used. Prenatal diagnosis is basically carried during the first trimester of pregnancy on trophoblasts DNA and occasionally on DNA extracted from amniotic cells. Biosynthetic analysis of fetal blood in the second trimester has gradually been abandoned.

At present prenatal diagnosis on fetal cells isolated from maternal circulation and preimplantation material is at an experimental stage.