title: Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italia. acao@mcweb.unica.it
authors: A
authors: A
authors: Cao
authors: R
authors: R
authors: Congiu
authors: M C
authors: MC
authors: Sollaino
authors: M F
authors: MF
authors: Desogus
authors: F R
authors: FR
authors: Demartis
authors: D
authors: D
authors: Loi
authors: M
authors: M
authors: Cau
authors: R
authors: R
authors: Galanello
mesh_terms: D000293:Adolescent; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000458:organization & administration*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000453:epidemiology*; D006579:Heterozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D010353:Patient Education as Topic; D015397:Program Evaluation; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000453:epidemiology*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology*