Estimation of the numbers and prevalences of the PI*S and PI*Z deficiency alleles of AAT Deficiency in Asia

¹ Center for the Evaluation of Risks to Human Reproduction National Toxicology Program, National Institute of Environmental Health Sciences, PO Box 12233, Research Triangle Park, NC 27709-2233 (U.S.A.)
² Internal Medicine Division, Respiratory Diseases Branch, Hospital Valle del Nalon, 33920 Langreo, Principado de Asturias, Spain
³ Bio-statistics Unit, Hospital Universitario Central de Asturias, 33006 Oviedo, Principado de Asturias, Spain

	Abstract

The present paper focuses on updating estimates of the numbers of individuals carrying the two most common deficiency alleles PI*S and PI*Z for alpha-1-antitrypsin deficiency (AAT Deficiency) in 20 countries located in Asia.

A total of 170 cohorts with 31,177 individuals were selected from 20 Asian countries. The total AAT Deficiency populations in the countries selected were 7,264 ZZ; 36,754 SZ; 6,672,479 MZ; 46,492 SS; and 16,881,108 MS. Marked differences among these Asian countries and regions also were found for the prevalence of the deficiency alleles PI*S and PI*Z. These numbers demonstrate that AAT Deficiency is not just a genetic disease that affects smaller numbers than various countries, for example, in Europe.

There were marked differences between the prevalences of the PI*S and PI*Z deficiency alleles among these 20 Asian countries as well as among the countries within a given geographic region in Asia. The largest numbers of ZZ phenotypes (3,000-14,000) were in Afghanistan, Pakistan, Saudi Arabia, and Thailand; with less than 1,700 in each of the remaining countries.