Spectrum of Alpha-1 Antitripsin Deficiency Mutations Detected in Tenerife

Genetic Epidemiology of Alpha-1 Antitrypsin Deficiency in Macaronesia

“…Finally, at the University Hospital of Tenerife a retrospective analysis carried out on samples from 325 subjects referred for clinical suspicion of AATD, various uncommon genotypes, including several Mmalton, Mpalermo, QOcardiff, QOamersfoort, and other poorly labelled genotypes, were found. Overall, the percentage of patients carrying rare deficiency alleles was 7.7%, eighty percent of them PI*Mmalton and PI*Mpalermo [17][18][19].…”

“…The authors found 25 PI*ZZ, 69 PI*SZ, 25 PI*SS, and various uncommon, rare and null genotypes. Overall, the percentage of patients carrying rare deficiency alleles was 7.7%, eighty percent of them PI*Mmalton and PI*Mpalermo [17‒19].…”

“…A bibliographic search was carried out in MEDLINE, Embase (through Ovid), and Google Scholar, until December 2023, looking for studies on prevalence of AATD in the general population and in screening of people clinically suspected of being affected by AATD in Macaronesia, selecting studies published in journals reviewed by peers in order to create a database with reliable results. With the keywords "Alpha-1 antitrypsin deficiency" and the name of each archipelago, in English, and some articles cited in the bibliography of those selected, 16 articles were compiled: 2 on Madeira [7,8], 13 on the Canary Islands [9][10][11][12][13][14][15][16][17][18][19][20][21], and 1 on Cape Verde [22]. None was found about the Azores.…”

“…With this methodology, three studies carried out in the general population of Madeira [7], La Palma (Canary Islands) [11], and Cape Verde [22] were selected. In addition, three screening studies aimed at detecting AATD in respiratory patients with COPD or asthma, two carried out in La Palma [11] and one in Gran Canaria [17] were selected.…”