Haemochromatosis gene frequency in a control and diabetic Irish population

Abstract

Background: Hereditary haemochromatosis is inherited in an autosomal recessive manner. Two major mutations have been identified and the condition is emerging as one of the most common recessive mutations among subjects of Northern European descendants.

Aim: This study investigated the prevalence of C282Y, H63D and S65C (three mutations of clinical significance for haemochromatosis), in a diabetic and control population from the North West of Ireland.

Methods: DNA was extracted from whole blood samples of 249 known diabetics and 249 controls and assayed for the three genetic variants (C282Y, H63D and S65C).

Results: The incidence for C282Y homozygosity is higher in the control population (1 in 83) when compared to the diabetic group (1 in 249). However, this is not statistically significant. S65C heterozygosity occurs with an incidence of 1 in 32 in control individuals and 1 in 124 in the diabetic population. The prevalence of the H63D mutation was similar in both populations.

Conclusion: For the three haemochromatosis mutations, there was no significant difference between the control group and the diabetic populations.