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Screening of alpha-1 antitrypsin deficiency in a blood donors cohort of the North-Italian area

2015; Lippincott Williams & Wilkins; Linguagem: Inglês

10.1183/13993003.congress-2015.pa1135

1531-5487

Ilaria Ferrarotti, Luciano Corda, Nuccia Gatta, Stefania Ottaviani, Alessia Braghini, Marianna Arici, Giovanna Lanzani, Federica Benini, Angelo Giudo Corsico, Bruno Balbi,

Pulmonary Hypertension Research and Treatments

Alpha1-antitrypsin deficiency (AATD) is an under-diagnosed hereditary disorder characterized by reduced serum levels of alpha1-antitrypsin (AAT) and increased risk to develop lung emphysema at an early age and chronic liver disease. Current guidelines for AATD state that adult population screening should only be done in high-risk areas. Italy has a medium-low prevalence of AATD. Nevertheless, a recent population screening conducted in a small village, closed-in alpine valley North of Brescia demonstrated a high AATD prevalence with low levels of genetic mixing 1 . A total of 1009 blood donors from five villages of the North-Italian valleys have been investigated for AATD. Blood samples were collected as Dried Blood Spot (DBS). We performed the determination of AAT serum levels and S/Z genotyping.The rare mutations were identified by sequencing of coding exons of the SERPINA1 gene. We diagnosed 37 subjects with intermediate AAT (3.7%), that is not far from previous epidemiological data in the general population 2 . No severe AATD has been detected. Allelic frequencies of S, Z and rare deficient alleles were 0.99, 0.35, and 0.54 %, respectively, with marked differences among villages. The screening of a population in at-risk areas, such as Italian alpine valleys, allowed early diagnosis of AATD-related diseases or the identification of asymptomatic AATD individuals and made it possible to apply prevention measures. Moreover, this pilot study enabled the creation in that area of a precise mapping of AAT genotypes, which are in close relationship with the population movements in Italy. Corda et al, Respiration 2011;82:418–425. De Serres aet al, Monaldi Arch Chest Dis 2005;63:3,133-141.