Results of programmes for antenatal detection of thalassemia in reducing the incidence of the disorder

Abstract

The characteristics and the effectiveness of programmes designed to prevent β-thalassemia major present in high frequency in several areas of the world such as Cyprus, Greece and Sardinia are reviewed. All these programmes are based on heterozygote detection, counselling and foetal diagnosis. The target population for screening have been couples at marriage, conception or early pregnancy. Awareness of the problem and involvement of the population was achieved via mass-media or personal approaches through lectures or discussions. Parent's Association were consulted and have been actively involved. Information leaflets have been made available to prospective couples at several critical areas. Education on thalassemias was introduced into the school curriculum. Counselling was based on a private interview at which the several options available were discussed with the individual carrier or the couple. Prenatal diagnosis was chosen by the large majority of couples counselled. All these programmes resulted in a decline of thalassemia major births by 50–97%. The reasons for residual cases were mostly lack of information and, less frequently, misdiagnoses or refusal of fetal diagnoses.