title: Idiopathic haemochromatosis. Family studies and results of a pilot prevalence survey.
abstract: HLA typing for the A and B loci was carried out in conjunction with measurements of iron status on 38 of the first-degree relatives of 8 patients suffering from idiopathic haemochromatosis (IHC). Seven of the 8 probands had the A3 allele, 2 in the homozygous form. Seven had the B7 allele and in 5 it was present with the A3 allele on the same chromosome. Six family members were diagnosed as homozygous for the HLA-linked iron-loading gene on the basis of genotype assessment, while 27 were assessed as being heterozygous. Five of the 6 homozygous subjects had developed significant iron overload. In contrast, disturbances of iron metabolism in the heterozygotes were mild and present in only 33%. Pseudodominant inheritance of IHC was noted in one family, presumably as the result of a homozygous/heterozygous mating. A pilot epidemiological survey was carried out on 222 Afrikaans-speaking men in an attempt to find affected individuals using the serum ferritin concentration as the screening test. One homozygous subject was identified (genotype A3, B7/A3, B7) and further family studies confirmed the presence of the HLA-linked iron-loading gene. These preliminary results suggest a disease frequency of about 4-5/1,000 in the Afrikaner population.
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D005260:Female; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010865:Pilot Projects
chemical_list: D005293:Ferritins; D007501:Iron