Lack of association between hemochromatosis and alpha-antitrypsin deficiency.
alpha 1-Antitrypsin (AAT) deficiency of phenotype PiZ and idiopathic hemochromatosis (IH) predispose to the development of cirrhosis and liver cell carcinoma. Several reports have suggested an association between these two inborn errors. To elucidate this question we used a monoclonal antibody against the PiZ gentic variant of AAT to analyze and compare the PiZ gene frequency in an area (county of Jämtland in Central Sweden) with a high, and another area (the city of Malmö in Southern Sweden) with a low IH prevalence. The PiZ gene frequencies did not differ between the areas. We also analyzed sera from 27 unrelated adult males with hemochromatosis diagnosed in the high IH area for the presence of the PiZ gene product but none was a carrier of the PiZ allele. These findings strongly refute any association between. AAT deficiency and IH.
D000328:Adult; D000911:Antibodies, Monoclonal / Q000032:analysis; D001782:Blood Donors; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005787:Gene Frequency; D006432:Hemochromatosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D013548:Sweden; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000911:Antibodies, Monoclonal; D000515:alpha 1-Antitrypsin