Alpha1-antitrypsin (alpha1-AT) deficiency is diagnosed as a two-stage procedure (concentration and phenotype). However the latter does not provide clues to the presence of null genes without family studies and obtaining blood from patients at a distance often proves difficult. The aim of the study was to assess the feasibility of genotyping alpha1-AT using buccal cells. Mouthwash specimens were...

Complete absence of data on alpha 1 antitrypsin in this country prompted us to determine serum levels using radial immunodiffusion (RID) and phenotypes by isoelectric focusing (IEF) in 100 healthy adults (52 males and 48 females). Mean serum alpha 1 antitrypsin concentration in healthy subjects was 2.47 +/- 0.08 g/l and the main phenotypes MM (70%), M1 M2 (28%) and FM 3 (2%) are infrequent in o...

Discovery of AAT deficiency by Laurell and Eriksson in 1963 [2] provided a foundation for current thinking about the pathogenesis of pulmonary emphysema [3,4]. Although AAT deficiency has become one of the best understood genetic disorders at a molecular and protein level, many questions about the clinical disease remain unanswered. Current American and International research projects should pr...

Alpha 1-antitrypsin deficiency is associated with pulmonary emphysema and liver cirrhosis. The pathogenesis and treatment is reviewed with particular emphasis on gene therapy for emphysema. The technology of gene transfer using viruses and liposomes is developing fast and animal experiments have confirmed the feasibility of gene therapy for alpha 1-antitrypsin deficiency (AATD). So far only sub...

The alpha-1-antitrypsin (alpha 1 AT) Pi phenotypes have been determined by isoelectric focusing in a series of 228 patients having a histologically diagnosed malignant lymphoma and in 250 healthy controls. The Pi MZ phenotype occurred in 13 patients with lymphoma (5 . 8%) and in five of 250 healthy individuals (2%). Furthermore, one patient with a Pi SS and three patients with an abnormal unkno...

A patient with coexistent hemochromatosis and alpha-1-antitrypsin deficiency which led to cirrhosis and death despite adequate therapy for hemochromatosis is reported. Evaluation of the family revealed first degree relatives with iron overload and others with alpha-1-antitrypsin deficiency but none with both conditions. The role of family studies in the early recognition and possible prevention...