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: M Longinotti, P Pistidda, L Oggiano, L Guiso, L Frogheri, F Dore, S Pardini, S Bonfigli, E Rimini, S Angioni
• Journal: Clinical genetics (Clin Genet) Vol. 46 Issue 3 Pg. 238-43 (Sep 1994) ISSN: 0009-9163 [Print] Denmark
• PMID: 7820938 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Genetic Counseling
• Genetic Testing
• Humans
• Italy
• Phenotype
• beta-Thalassemia (genetics, prevention & control)