HFE GENE MUTATIONS

FREQUENCY OF TWO COMMON HFE GENE MUTATIONS (C282Y & H63D) IN AN IMMIGRANT POPULATION (BRITISH PAKISTANIS) IN UK.

  • Nadir Ali Sargodha Medical College, Sargodha.
  • Bashir Ahmed Independent Medical College, Faisalabad.
  • Humaira Akram Sargodha Medical College, University of Sargodha, Sargodha.
  • Junaid Akhtar Sargodha Medical College, University of Sargodha, Sargodha.
  • Ross Williams School of Life Sciences, College of Science, University of Lincoln, UK.
  • Ron Dixon School of Life Sciences, College of Science, University of Lincoln, UK.
Keywords: 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.

Author Biographies

Nadir Ali, Sargodha Medical College, Sargodha.

MBBS, M.Phil (Forensic Medicine)
UK
Assistant Professor,
Forensic Medicine& Toxicology
Department,

Bashir Ahmed, Independent Medical College, Faisalabad.

MBBS, DMJ
Head & Associate Professor,
Forensic Medicine & Toxicology,

Humaira Akram, Sargodha Medical College, University of Sargodha, Sargodha.

MBBS, FCPS
Professor of Gynaecology,

Junaid Akhtar, Sargodha Medical College, University of Sargodha, Sargodha.

M.Phil (Basic Medical Sciences)
Lecturer,

Ross Williams, School of Life Sciences, College of Science, University of Lincoln, UK.

PhD, Post Doc.
Senior Lecturer,

Ron Dixon, School of Life Sciences, College of Science, University of Lincoln, UK.

PhD, Post Doc.
Reader,

Published
2018-01-10