A Cao, R Congiu, M C Sollaino, M F Desogus, F R Demartis, D Loi, M Cau, R Galanello
{"title":"撒丁岛13- 14岁学生的地中海贫血和葡萄糖-6-磷酸脱氢酶筛查:初步发现。","authors":"A Cao, R Congiu, M C Sollaino, M F Desogus, F R Demartis, D Loi, M Cau, R Galanello","doi":"10.1159/000113873","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>In this paper we describe the outline and results of a 7-year screening programme for thalassaemias and glucose-6-phosphate dehydrogenase (G6PD) deficiency in 13- to 14-year-old students from the Sardinian population.</p><p><strong>Method: </strong>This programme had several steps: formal education on thalassaemia, request of informed consent by parents, blood testing and genetic counselling.</p><p><strong>Results: </strong>Out of 63,285 subjects tested, 6,521 (10.3%) were heterozygotes for beta-thalassaemia, 16,175 (25.6%) for alpha-thalassaemia and 101 were carriers of a haemoglobin variant. One thousand four hundred and twenty (16.4%) males were hemizygotes for G6PD deficiency and 1,893 (20.6%) females were heterozygotes.</p><p><strong>Conclusion: </strong>The uptake of the programme was remarkably high and homogeneous across the island, indicating and confirming a great interest of the Sardinian population in any initiative directed at the prevention of homozygous beta-thalassaemia.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 3","pages":"121-8"},"PeriodicalIF":0.0000,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000113873","citationCount":"30","resultStr":"{\"title\":\"Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings.\",\"authors\":\"A Cao, R Congiu, M C Sollaino, M F Desogus, F R Demartis, D Loi, M Cau, R Galanello\",\"doi\":\"10.1159/000113873\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>In this paper we describe the outline and results of a 7-year screening programme for thalassaemias and glucose-6-phosphate dehydrogenase (G6PD) deficiency in 13- to 14-year-old students from the Sardinian population.</p><p><strong>Method: </strong>This programme had several steps: formal education on thalassaemia, request of informed consent by parents, blood testing and genetic counselling.</p><p><strong>Results: </strong>Out of 63,285 subjects tested, 6,521 (10.3%) were heterozygotes for beta-thalassaemia, 16,175 (25.6%) for alpha-thalassaemia and 101 were carriers of a haemoglobin variant. One thousand four hundred and twenty (16.4%) males were hemizygotes for G6PD deficiency and 1,893 (20.6%) females were heterozygotes.</p><p><strong>Conclusion: </strong>The uptake of the programme was remarkably high and homogeneous across the island, indicating and confirming a great interest of the Sardinian population in any initiative directed at the prevention of homozygous beta-thalassaemia.</p>\",\"PeriodicalId\":80975,\"journal\":{\"name\":\"Community genetics\",\"volume\":\"11 3\",\"pages\":\"121-8\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2008-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1159/000113873\",\"citationCount\":\"30\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Community genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000113873\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2008/3/26 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Community genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000113873","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2008/3/26 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings.
Objectives: In this paper we describe the outline and results of a 7-year screening programme for thalassaemias and glucose-6-phosphate dehydrogenase (G6PD) deficiency in 13- to 14-year-old students from the Sardinian population.
Method: This programme had several steps: formal education on thalassaemia, request of informed consent by parents, blood testing and genetic counselling.
Results: Out of 63,285 subjects tested, 6,521 (10.3%) were heterozygotes for beta-thalassaemia, 16,175 (25.6%) for alpha-thalassaemia and 101 were carriers of a haemoglobin variant. One thousand four hundred and twenty (16.4%) males were hemizygotes for G6PD deficiency and 1,893 (20.6%) females were heterozygotes.
Conclusion: The uptake of the programme was remarkably high and homogeneous across the island, indicating and confirming a great interest of the Sardinian population in any initiative directed at the prevention of homozygous beta-thalassaemia.
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