title: Porphyria cutanea tarda and HLA-linked hemochromatosis. Evidence against a systematic association.
abstract: This study was designed to test the hypothesis that a hemochromatosis allele is implicated in the expression of porphyria cutanea tarda. HLA phenotypes were determined in 69 porphyria cutanea tarda patients, 42 of which had the sporadic type (normal erythrocyte uroporphyrinogen decarboxylase activity) and 27 unrelated patients who had the familial type (diminished erythrocyte uroporphyrinogen decarboxylase activity). The incidence of HLA antigen A3, a marker of the hemochromatosis allele, was identical in the sporadic patients (23.8%), in the familial patients (22.2%), and in the controls (24.5%). Furthermore, no clinical difference could be found between A3 and non-A3 patients. These results demonstrate no systematic association between hemochromatosis and porphyria cutanea tarda in the population studied. Another HLA-linked gene, however, could be implicated in the expression of the disease as HLA antigen DR7 presented an incidence statistically different (p less than 0.05) between sporadic (16.6%) and familial patients (43%).
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis* / Q000235:genetics; D006684:HLA-DR Antigens / Q000032:analysis; D006432:Hemochromatosis / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008875:Middle Aged; D011164:Porphyrias / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D012871:Skin Diseases / Q000201:enzymology / Q000235:genetics* / Q000276:immunology
chemical_list: D006680:HLA Antigens; D006684:HLA-DR Antigens