Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings.

Community genetics Pub Date : 2008-01-01 Epub Date: 2008-03-26 DOI:10.1159/000113873

A Cao, R Congiu, M C Sollaino, M F Desogus, F R Demartis, D Loi, M Cau, R Galanello

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引用次数: 30

Abstract

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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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。

目的:在本文中，我们描述了撒丁岛13- 14岁学生中地中海贫血和葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的7年筛查计划的大纲和结果。方法:该方案有几个步骤:地中海贫血的正规教育、要求父母知情同意、血液检测和遗传咨询。结果:在63,285名受试者中，6,521名(10.3%)为β -地中海贫血的杂合子，16,175名(25.6%)为α -地中海贫血，101名是血红蛋白变体携带者。G6PD缺乏症男性为半合子1420例(16.4%)，女性为杂合子1893例(20.6%)。结论:整个岛对该方案的接受程度非常高，而且都是均匀的，这表明并证实了撒丁岛人口对旨在预防纯合子-地中海贫血的任何倡议都非常感兴趣。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Community genetics

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