title: A 12-year preventive program for beta-thalassemia in Northern Sardinia.
abstract: From 1980 to 1991, 6.3% of the adult population of the province of Sassari, Northern Sardinia, underwent voluntary beta-thalassemia screening. Of the 28,000 subjects examined, 15.7% proved to be heterozygotes for beta-thalassemia. In addition, the screening of 7500 students in 26 villages in Sassari province fixed the frequency of beta-thalassemia in this part of Sardinia at 10.4%. Of the 539 couples at risk to be expected from this figure, the screening detected 43% (234). The data suggest that inductive screening played a major role in the efficiency of this preventive beta-thalassemia program. Follow up of 221 pregnancies found to be at risk for homozygous beta-thalassemia and referred to the Antenatal Diagnosis Service, Cagliari, Southern Sardinia, showed that antenatal diagnosis was carried out in 80% of them. The overall percentage of couples refusing antenatal diagnosis was 10.8%, but over the years the acceptance rate for the procedure increased from 87% to 96%. Atypical hematological findings in 1.5% of 468 members of the couples at risk required globin chain synthesis and molecular analyses to define the precise beta-thalassemia genotype. Heterogeneous "mild" beta-thalassemia mutations as well as coexisting delta-thalassemia were found in silent type I and type II beta-thalassemia carriers which, without chain synthesis and DNA investigations, would have escaped detection.
authors: Istituto di Ematologia, Università di Sassari, Italy.
authors: M
authors: M
authors: Longinotti
authors: P
authors: P
authors: Pistidda
authors: L
authors: L
authors: Oggiano
authors: L
authors: L
authors: Guiso
authors: L
authors: L
authors: Frogheri
authors: F
authors: F
authors: Dore
authors: S
authors: S
authors: Pardini
authors: S
authors: S
authors: Bonfigli
authors: E
authors: E
authors: Rimini
authors: S
authors: S
authors: Angioni
mesh_terms: D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007558:Italy; D010641:Phenotype; D017086:beta-Thalassemia / Q000235:genetics / Q000517:prevention & control*