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J Community Genet. 2014 Jul;5(3):265-8. doi: 10.1007/s12687-013-0171-z. Epub 2013 Oct 27.

Carrier screening for inherited haemoglobin disorders among secondary school students and young adults in Latium, Italy.

Journal of community genetics

Antonio Amato, Maria Pia Cappabianca, Maria Lerone, Alessia Colosimo, Paola Grisanti, Donatella Ponzini, Paola Di Biagio, Maria Perri, Debora Gianni, Silvana Rinaldi, Roberta Piscitelli

Affiliations

  1. Centro Studi Microcitemie Roma, Associazione Nazionale per la lotta contro le Microcitemie in Italia (ANMI Onlus), Rome, Italy, [email protected].

PMID: 24163007 PMCID: PMC4059842 DOI: 10.1007/s12687-013-0171-z

Abstract

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.

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