Amato Antonio, Cappabianca Maria Pia, Lerone Maria, Colosimo Alessia, Grisanti Paola, Ponzini Donatella, Di Biagio Paola, Perri Maria, Gianni Debora, Rinaldi Silvana, Piscitelli Roberta
Centro Studi Microcitemie Roma, Associazione Nazionale per la lotta contro le Microcitemie in Italia (ANMI Onlus), Rome, Italy,
J Community Genet. 2014 Jul;5(3):265-8. doi: 10.1007/s12687-013-0171-z. Epub 2013 Oct 27.
To reduce the incidence of β-thalassaemia major and other severe haemoglobin-related disorders by the early identification of healthy carriers, the Centro Studi Microcitemie Roma has been organising since 1975 a prevention programme in Latium, an Italian central region. This programme entails two different types of carrier screening on a voluntary basis: a universal screening offered to secondary school students and a screening offered to young adults. In 36 years of scholastic screening (from 1975 until 2011), 1,466,100 students have been examined and 26,786 (1.8 %) carriers of non-α thalassaemia have been identified. In the extra-scholastic screening, 388,690 adult subjects (including the carriers' relatives) have been examined and a total of 38,457 (9.9 %) carriers of non-α thalassaemia have been detected. These results demonstrate that the precocious identification of healthy carriers allowed the identification of at-risk couples and reduced to zero the birth of affected babies in the Latium native population. This programme does not involve huge resources and is relatively inexpensive and, as such, it is essential to be offered to the total Latium scholastic and extra-scholastic population, which is epidemiologically changing due to migratory fluxes from countries in which haemoglobin disorders are common.
为通过早期识别健康携带者来降低重型β地中海贫血及其他严重血红蛋白相关疾病的发病率,罗马小红细胞研究中心自1975年起在意大利中部地区拉齐奥组织了一项预防计划。该计划包括两种不同类型的自愿携带者筛查:面向中学生的普遍筛查和面向年轻人的筛查。在36年的学校筛查(从1975年至2011年)中,共检查了1,466,100名学生,确定了26,786名(1.8%)非α地中海贫血携带者。在校外筛查中,共检查了388,690名成年受试者(包括携带者的亲属),共检测出38,457名(9.9%)非α地中海贫血携带者。这些结果表明,对健康携带者的早熟识别能够识别出有风险的夫妇,并使拉齐奥本地人口中受影响婴儿的出生率降为零。该计划不需要大量资源,成本相对较低,因此,必须向整个拉齐奥的学校和校外人口提供,由于来自血红蛋白疾病常见国家的移民潮,该地区的流行病学情况正在发生变化。