Population-based genetic screening

Curr Opin Genet Dev. 1991 Jun;1(1):48-53. doi: 10.1016/0959-437x(91)80040-s.

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

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Fetal Diseases / diagnosis
  • Gene Frequency
  • Genetic Carrier Screening
  • Genetic Counseling
  • Globins / genetics
  • Health Education
  • Humans
  • Incidence
  • Italy / epidemiology
  • Male
  • Mass Screening* / methods
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Population Surveillance*
  • Pregnancy
  • Prenatal Diagnosis
  • Registries
  • Thalassemia / classification
  • Thalassemia / diagnosis
  • Thalassemia / epidemiology
  • Thalassemia / genetics
  • Thalassemia / prevention & control*

Substances

  • Globins