Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings

Community Genet. 2008;11(3):121-8. doi: 10.1159/000113873. Epub 2008 Mar 26.

Abstract

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.

MeSH terms

  • Adolescent
  • Female
  • Genetic Counseling
  • Genetic Testing / organization & administration*
  • Glucosephosphate Dehydrogenase Deficiency / diagnosis
  • Glucosephosphate Dehydrogenase Deficiency / epidemiology*
  • Heterozygote
  • Humans
  • Italy / epidemiology
  • Male
  • Patient Education as Topic
  • Program Evaluation
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / epidemiology*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / epidemiology*