title: Population-based genetic screening.
abstract: A preventive genetic programme aimed to control beta-thalassemia in the Sardinian population is based on a combination of increased awareness of the population, carrier screening, genetic counselling and prenatal diagnosis. As a result, the registry of thalassemia major demonstrated a profound decline in the incidence of this disease from 1 per 250 to 1 per 1200 live births, with 90% of cases effectively prevented.
authors.affiliation: Università Studi Cagliari, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: M C
authors.initials: MC
authors.lastname: Rosatelli
authors.forename: R
authors.initials: R
authors.lastname: Galanello
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005914:Globins / Q000235:genetics; D006266:Health Education; D006801:Humans; D015994:Incidence; D007558:Italy / Q000453:epidemiology; D008297:Male; D008403:Mass Screening / Q000379:methods; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011159:Population Surveillance; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012042:Registries; D013789:Thalassemia / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*
chemical_list: D005914:Globins