Original Paper

Thalassaemia and Glucose-6-Phosphate Dehydrogenase Screening in 13- to 14-Year-Old Students of the Sardinian Population: Preliminary Findings
A. Cao^a, R. Congiu^b, M.C. Sollaino^b, M.F. Desogus^b, F.R. Demartis^b, D. Loi^b, M. Cau^b, R. Galanello<sup>b

a</sup>Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche e
^bDipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Ospedale Microcitemico, Cagliari, Italia

Address of Corresponding Author

Community Genet 2008;11:121-128 (DOI: 10.1159/000113873)

  Key Words

• Screening
• Thalassaemia
• Haemoglobinopathies
• Glucose-6-phosphate dehydrogenase

  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 -thalassaemia, 16,175 (25.6%) for -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 -thalassaemia.

Copyright © 2008 S. Karger AG, Basel

  Author Contacts

Prof. Antonio Cao
Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche
Via Jenner s/n
IT-09121 Cagliari (Italy)
Tel. +39 070 503 341, Fax +39 070 609 5524, E-Mail acao@mcweb.unica.it

  Article Information

Published online: March 26, 2008
Number of Print Pages : 8
Number of Figures : 3, Number of Tables : 2, Number of References : 24