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241 IRON OVERLOAD IN NOVA SCOTIA (IRONS) PROJECT: THE FREQUENCY OF HFE GENE TESTING BETWEEN 2001 AND 2005 N Ahmed, B Nassar*, C Burgess+, G Hirsch+, KM Peltekian Classic hereditary hemochromatosis (HHC) is an autosomal recessive disease which results in excess tissue iron deposition leading to multiple organ injury. The largely Celtic origins of the Atlantic Region of Canada would suggest that there is a high prevalence of HHC in Nova Scotia. There is only one central laboratory that performs HFE gene mutations in Nova Scotia that has performed more than 12,000 referrals since 1997. We report the prevalence of HFE gene mutations tested at the Clinical Chemistry Laboratory between 2001 and 2005.
Departments of Medicine, *Laboratory Medicine, +Nursing, Dalhousie University and Capital District Health Authority, Halifax, Nova Scotia
METHODS: Demographic data was extracted from the Laboratory Information Systems and the electronic database of Clinical Chemistry Laboratory. The records before 2001 are in paper format and they are being entered into an electronic database for future studies. HFE gene testing is performed by routine methodology to identify the C282Y and H63d mutations. Research Ethics Board approval was received prior to initiation of IRONS Project.
RESULTS: During the study period, 3300 subjects were tested for HFE gene mutations. The mean age is 53 ± 13 yrs, 54% males. Age and sex distribution of this cohort similar to the general population of Nova Scotia. Although 600 physicians had referred subjects for HFE gene testing, 50% of referrals came from 60 physicians. The frequency of HFE gene mutations were: wild type (CCHH) 43%, heterozygote for H63d (CCHd) 23%, homozygous for H63d only (CCdd) 4%, compound heterozygote (CYHd) 7%, heterozygote for C282Y (CYHH) 17% and homozygote for C282Y (YYHH) 7%. Out of 3300, 231 subjects (107 males, 124 females) were identified. Clinical characterization of these subjects will be done separately in the future.
CONCLUSIONS: This is the first time in Nova Scotia the frequency of HFE gene mutations have been described in subjects referred for testing. Although, this is a biased cohort it raises the need for future population-based studies in Atlantic Canada.