RESUMO
alpha 1-antitrypsin (AAT) deficiency is an inherited condition characterized by low serum levels of AAT and an increased risk of developing pulmonary emphysema. The disease occurs mainly in Caucasians, but Southern Europe, including Italy, is considered a low prevalence area. We developed a national program in Italy in order to improve our knowledge of the epidemiology of AAT deficiency and to establish a registry of the AAT-deficient individuals. The program had two phases: the first lasted 36 months, during which blood from coupons mailed by respiratory physicians from throughout the country, was isoelectrofocused by the Central Laboratory in Rome. The second phase started in February 1996, and the Registry was established. Up to August 1998, 151 subjects with AAT deficiency have been identified and 64 have been enrolled in the Registry. We believe that such a program plays a crucial role in identifying AAT deficiency in a country such as Italy, with low prevalence and low awareness of this rare condition.
Assuntos
Programas de Rastreamento/organização & administração , Deficiência de alfa 1-Antitripsina/diagnóstico , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Programas Nacionais de Saúde , Prevalência , Desenvolvimento de Programas , Fatores de Risco , Deficiência de alfa 1-Antitripsina/epidemiologiaRESUMO
A total of 461 individuals, belonging to some Subsaharan populations (Beti, Bateke and Babenga Pygmies of Congo; Goun and Nago of Benin; Mbugu and Sango of the Central African Republic), and a sample of 231 individuals of the population of Rome (Italy) have been typed for red cell esterase D using conventional electrophoresis and isoelectric focusing. The Subsaharan populations showed a high variability of the frequency of the EsD2 allele (0.018-0.138) and the absence of the EsD5 allele which, on the contrary, reached a polymorphic frequency (0.017) in the Italian sample. These results suggest that the EsD5 allele has a Caucasian origin.
