Serum Ferritin as a Possible Marker of the Hemochromatosis Allele

Abstract

To determine whether a correlation exists between the biochemical expression of hemochromatosis and the HLA genotype, we studied 174 family members of 32 persons with the disease. Persons who shared both HLA haplotypes with the proband (and presumably having two hemochromatosis alleles) differed significantly from those who shared only one haplotype (and presumably having one hemochromatosis allele) in terms of serum iron (P<0.001 for both sexes), unsaturated iron-binding capacity (P<0.01 for female and P<0.0001 for male subjects) and serum ferritin (P<0.0001 for female and P<0.00001 for male subjects). The only significant difference between relatives having one hemochromatosis allele and age and sex-matched controls was related to serum ferritin values in male subjects (P<0.05, despite considerable overlap). In our hands, serum ferritin was the best indicator of disordered iron metabolism and was elevated among most homozygous but among few heterozygous family members. (N Engl J Med 301:169–174, 1979)