Background: Hereditary Haemochromatosis (HH) and Coeliac disease (CD) are common disorders in Northern European populations, particularly the Irish population.
Aims: To investigate whether there was increased frequency of the two common HFE gene mutations, C282Y and H63D, associated with HH amongst a cohort of CD patients, and to determine the penetrance of the HH associated genotypes in this cohort.
Methods: HFE genotypes of a cohort of CD patients were determined using standard PCR techniques. HFE allele frequencies were compared to those of a previously reported, ethnically similar, cohort of 800 neonates, using Fishers exact test. Patients with HH-associated genotypes were subsequently evaluated.
Results: The C282Y and H63D allele frequencies, 24/222 (11%) and 28/222 (13%) respectively, in the CD patients were similar to those of the neonatal group, 171/1600 (11%) and 242/1600 (15%). Eight patients had HH-associated genotypes, of which two demonstrated biochemical evidence of iron overload.
Conclusion: The HFE mutations associated with Hereditary Haemochromatosis are not more common in Irish CD patients.