Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Phenotype-genotype correlation in haemochromatosis subjects

  • 97 Accesses

  • 60 Citations


Haemochromatosis is a common autosomal recessive genetic disorder of iron metabolism. A candidate gene was recently identifed (HLA-H) and two amino acid substitutions (C282Y and H63D) were characterized. Haemochromatosis probands (n = 478) from Brittany were selected from their iron status markers, primarily serum iron, serum ferritin and transferrin saturation. We investigated the relationships between haemochromatosis phenotype and genotypes at the HLA-H locus and surrounding markers. As already reported, we observed that the C282Y substitution is unambiguously associated with the haemochromatosis phenotype, haemochromatosis patients homozygous for the substitution (Tyr/Tyr) accounting for 81.2% of all haemochromatosis patients. A clear heterogeneity in serum ferritin and transferrin saturation values, and in iron removed by phlebotomy was observed among haemochromatosis patients that is correlated with the presence of two subgroups of individuals homozygous and non-homozygous for the mutant allele C282Y, the latter being characterized by lower phenotypic values. In this subgroup, sequencing did not reveal any other mutation in the HLA-H gene, hence the genotype remained unclear. Thus, an additional non-genetic cause, other mutations or another gene can not be excluded as explanations for the results in these patients.

This is a preview of subscription content, log in to check access.

Author information

Additional information

Received: 3 February 1997 / Accepted: 14 August 1997

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Mura, C., Nousbaum, J., Verger, P. et al. Phenotype-genotype correlation in haemochromatosis subjects. Hum Genet 101, 271–276 (1997). https://doi.org/10.1007/s004390050628

Download citation


  • Iron
  • Ferritin
  • Transferrin
  • Amino Acid Substitution
  • Mutant Allele