The celtic coincidence--the frequency and clinical characterisation of hereditary haemochromatosis in patients with coeliac disease.
BACKGROUND
Hereditary Haemochromatosis (HH) and Coeliac disease (CD) are common disorders in Northern European populations, particularly the Irish population.


OBJECTIVE
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.


CONCLUSIONS
The HFE mutations associated with Hereditary Haemochromatosis are not more common in Irish CD patients.
Leyden
J
J
Dept of Pathology, Mater Misericordiae University Hospital, Dublin.
Kelleher
B
B
Ryan
E
E
Barrett
S
S
O'Keane
J C
JC
Crowe
J
J
D002446:Celiac Disease / Q000175:diagnosis*; D015331:Cohort Studies; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006432:Hemochromatosis / Q000175:diagnosis* / Q000208:ethnology* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D006801:Humans; D007494:Ireland; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins