BACKGROUND AND OBJECTIVE Alpha-1 antitrypsin deficiency is an underdiagnosed condition in patients with chronic obstructive pulmonary disease. Diagnosis of this genetic condition is confirmed by genetic verification of pathology, but for screening purposes quantitative methods can be useful. The aim of our study was to evaluate sensitivity and specificity of quantitative methods for alpha-1 ant...

Human SERPINA1 gene is located on chromosome 14q31-32.3 and is organized into three (IA, IB, and IC) non-coding and four (II, III, IV, V) coding exons. This gene produces α1-antitrypsin (A1AT), a prototypical member of the serpin superfamily of proteins. We demonstrate that human peripheral blood leukocytes express not only a product corresponding to the transcript coding for the full-length A1...

Hepatitis C virus (HCV) infection represents a serious health problem. The -174 G/C mutation in the pro inflammatory cytokine interleukin-6 (IL-6) is associated with developing liver diseases. Likewise, the S and Z mutations in the serine protease inhibitor α1-antitrypsin (A1AT) are associated with pulmonary emphysema and/or liver cirrhosis. We explored the distribution of the single nucleotide...

A stable polymorphism of the Pi alleles M1, M2 and M3 close to their observed frequencies has been predicted, simply by relating fitness to the proportion of each genotype having alpha 1-antitrypsin (alpha 1-AT) levels greater than 100 mg/100 ml. By further specifying that the rare S and Z genotypes with low alpha 1-AT levels have enhanced fertility, equilibria of the M, S and Z alleles have al...

BACKGROUND Alpha-1 antitrypsin deficiency is under-recognized. We hypothesized that respiratory therapists (RTs) could help improve the detection rate of individuals with alpha-1 antitrypsin deficiency. The American Association for Respiratory Care (AARC) and Alpha-1 Foundation recently collaborated to create an online alpha-1 antitrypsin deficiency training program for RTs. This study aimed to...

BACKGROUND Alpha-1 antitrypsin deficiency is a common genetic condition that predisposes to emphysema and liver disease. Alpha-1 antitrypsin deficiency is under-recognized, so affected individuals often experience long delays in diagnosis and visits to multiple physicians before correct diagnosis. Reasoning that inadequate knowledge about alpha-1 antitrypsin deficiency could contribute to this ...