Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings.
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.
Cao
A
A
Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italia. acao@mcweb.unica.it
Congiu
R
R
Sollaino
M C
MC
Desogus
M F
MF
Demartis
F R
FR
Loi
D
D
Cau
M
M
Galanello
R
R
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*