HFE GENE MUTATIONS
FREQUENCY OF TWO COMMON HFE GENE MUTATIONS (C282Y & H63D) IN AN IMMIGRANT POPULATION (BRITISH PAKISTANIS) IN UK.
DOI:
https://doi.org/10.29309/TPMJ/2018.25.01.551Keywords:
HFE Gene Mutations (C282Y & H63D), Hereditary Hemochromatosis (HH)Abstract
Objectives: To determine the frequency of two common HFE Gene Mutations
(C282Y & H63D) in an immigrant population (British Pakistanis) in UK. Study Design: Cross
sectional study. Setting: University of Lincoln UK. Duration: Duration of study was 12 months
from 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 ancestral
origin Pakistani chromosomes (100 samples; 50 male and 50 female) were analysed by PCRRFLP
for the presence of the H63D and C282Y mutations. Results: Eight individuals were found
to be heterozygous for the H63D mutation and one individual was found to be homozygous
for 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 ancestral
origin population from Pakistan. The C282Y mutation was not detected at all. Conclusion: We
found that our results are close to Saudi-Arabian and Indian population (8.5% & 9.1% H63D
mutation, respectively) and in accordance with the global spread of the H63D mutation.
