Abstract
Objectives: To determine the frequency of two common HFE Gene Mutations(C282Y & H63D) in an immigrant population (British Pakistanis) in UK. Study Design: Crosssectional study. Setting: University of Lincoln UK. Duration: Duration of study was 12 monthsfrom 01/09/2012 to 31/08/2013. Material and Methods: Two hundred immigrant Pakistani (BP)chromosomes (100 samples; 50 male and 50 female) from major cities of UK and 200 ancestralorigin Pakistani chromosomes (100 samples; 50 male and 50 female) were analysed by PCRRFLPfor the presence of the H63D and C282Y mutations. Results: Eight individuals were foundto be heterozygous for the H63D mutation and one individual was found to be homozygousfor the H63D mutation, therefore, the H63D mutation was observed to have a frequency of 8%in immigrant Pakistani (BP) population sample and similar results were observed in ancestralorigin population from Pakistan. The C282Y mutation was not detected at all. Conclusion: Wefound that our results are close to Saudi-Arabian and Indian population (8.5% & 9.1% H63Dmutation, respectively) and in accordance with the global spread of the H63D mutation.
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