Estimates of PI*S and PI*Z Alpha-1 antitrypsin deficiency alleles prevalence in the Caribbean and North, Central and South America.

摘要: Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility individuals with this to both lung and liver disease as well other several adverse health effects. Studies develop accurate estimates magnitude genetic disorder in any given country critical for development screening programs detection, diagnosis, treatment those and/or families at risk. In present study, prevalence two major alleles PI S Z were estimated 25 countries Caribbean North, Central, South America supplement our previous studies on 69 worldwide. Method. Using data PIZ mother that provided majority immigrants these countries, epidemiological various subgroups indigenous Central it was possible new formulas estimate numbers each five phenotypic classes, namely MS, MZ, SS, SZ ZZ country. Results. When grouped into six different geographic regions, study demonstrated striking differences when comparisons made numeric tables, maps figures. Highly significant risk Deficiency found European, Mestizo Mulatto populations studied America. Conclusions. Our PIS among effects associated are added results from earlier we now have 94 193 worldwide listed CIA FactBook.