HLA typing in idiopathic hemochromatosis: Distinction between homozygotes and heterozygotes with biochemical expression
Mark L. Bassett, June W. Halliday, Lawrie W. Powell – 1 March 1981 – In a study of 20 families with idiopathic hemochromatosis, relatives of probands were classified as either homozygous, heterozygous, or normal according to their HLA phenotype. An abnormality in the serum iron concentration, total iron‐binding capacity, or serum ferritin concentration was present in all homozygotes and in 25% of heterozygotes. In heterozygotes, the mean total iron‐binding capacity was significantly decreased, and the mean hepatic iron concentration was significantly increased compared to normals.