Objectives: In this paper we describe the outline and results of a 7-year screening programme for thalassaemias and glucose-6-phosphate dehydrogenase (G6PD) deficiency in 13- to 14-year-old students from the Sardinian population.
Method: This programme had several steps: formal education on thalassaemia, request of informed consent by parents, blood testing and genetic counselling.
Results: Out of 63,285 subjects tested, 6,521 (10.3%) were heterozygotes for beta-thalassaemia, 16,175 (25.6%) for alpha-thalassaemia and 101 were carriers of a haemoglobin variant. One thousand four hundred and twenty (16.4%) males were hemizygotes for G6PD deficiency and 1,893 (20.6%) females were heterozygotes.
Conclusion: The uptake of the programme was remarkably high and homogeneous across the island, indicating and confirming a great interest of the Sardinian population in any initiative directed at the prevention of homozygous beta-thalassaemia.
(c) 2008 S. Karger AG, Basel