We report 40 cases of homozygous bêta thalassaemia, aged between 3 and 24 months, who were observed between January 1990 and June 1996 at the Thalassaemia Centre, Paediatric Department, Catania University.
A questionnaire was used to find out the parents'knowledge of their risk before the birth of the affected children and showed that the persistence of Mediterranean anaemia in Sicily was mainly because of the following reasons : (1) poor information (62.5%), (2) laboratory error (12.5%), (3) difficulty in the differential diagnosis of bêta thalassaemia trait (10%), and (4) not performing prenatal testing or selective abortion of an affected fetus (15%). We conclude that improved preventive measures at various medical and social levels can remove risk factors and so further reduce the incidence of Mediterranean anaemia in Sicily.
Mots-clés Pascal : Thalassémie bêta, Homozygotie, Epidémiologie, Sicile, Italie, Europe, Information, Prévention, Conseil génétique, Diagnostic, Prénatal, Homme, Hémopathie, Anémie hémolytique, Hémoglobinopathie, Maladie héréditaire, Génétique
Mots-clés Pascal anglais : bêta-Thalassemia, Homozygozity, Epidemiology, Sicily, Italy, Europe, Information, Prevention, Genetic counseling, Diagnosis, Prenatal, Human, Hemopathy, Hemolytic anemia, Hemoglobinopathy, Genetic disease, Genetics
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 97-0520820
Code Inist : 002B19A01. Création : 13/02/1998.