A 12-year preventive program for β-thalassemia in Northern Sardinia
| Autor: | Maurizio Roberto Longinotti, Simonetta Pardini, S. Angioni, L. Guiso, Silvana Bonfigli, P. Pistidda, L. Oggiano, A. Inzaina, E. Rimini, Frogheri L, Fausto Dore, P. Mulas |
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| Rok vydání: | 2008 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty medicine.diagnostic_test business.industry Obstetrics Genetic counseling Thalassemia Acceptance rate beta-Thalassemia Adult population Genetic Counseling Globin chain medicine.disease Phenotype Hemoglobinopathy Italy hemic and lymphatic diseases Genotype Genetics medicine Humans Genetic Testing business Genetics (clinical) Genetic testing |
| Zdroj: | Clinical Genetics. 46:238-243 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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