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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Adult
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Base Sequence
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DNA Mutational Analysis
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Female
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Fetal Diseases / diagnosis
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Gene Frequency
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Genetic Carrier Screening
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Genetic Counseling
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Globins / genetics
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Health Education
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Humans
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Incidence
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Italy / epidemiology
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Male
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Mass Screening* / methods
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Molecular Sequence Data
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Polymerase Chain Reaction
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Population Surveillance*
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Pregnancy
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Prenatal Diagnosis
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Registries
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Thalassemia / classification
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Thalassemia / diagnosis
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Thalassemia / epidemiology
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Thalassemia / genetics
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Thalassemia / prevention & control*