Molecular Biology Reports

, Volume 39, Issue 1, pp 753–759

Should we screen for hereditary hemochromatosis in healthy Lebanese: a pilot study

  • Rami A. R. Mahfouz
  • Doja S. Sarieddine
  • Khalil M. Charafeddine
  • Rabab N. Abdul Khalik
  • Najwa K. Cortas
  • Rose T. Daher
Article

DOI: 10.1007/s11033-011-0795-1

Cite this article as:
Mahfouz, R.A.R., Sarieddine, D.S., Charafeddine, K.M. et al. Mol Biol Rep (2012) 39: 753. doi:10.1007/s11033-011-0795-1
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Abstract

Hereditary hemochromatosis (HHC) is a genetic disorder of iron metabolism characterized by abnormal accumulation of iron that may lead to organ damage and death. Diagnosis is usually based on various genetic and phenotypic criteria. The study goals were to perform mutation analysis for 18 different mutations associated with HHC in healthy Lebanese, determine their allele frequency, and compare iron-overload status in identified carriers versus those found to be wild-type for mutations analyzed. 116 healthy adults (59 males and 57 females) underwent DNA testing for 18 different HHC mutations, and biochemical testing for percent transferrin saturation (%TS) and ferritin. C282Y mutation was not detected. Only H63D mutation (rs1799945) was found with an overall carrier frequency of 25.8% (24.1% heterozygous and 1.7% homozygous). %TS and ferritin differed significantly between genders. %TS and ferritin were significantly higher in males with H63D mutation when compared to males with wild-type (P = 0.001, 0.019; respectively); but not in females. The proportion of subjects with increased %TS and serum ferritin was not statistically different between those with H63D mutation and the wild-type in either gender. In addition, none of the subjects had concurrent increase in %TS and ferritin. In conclusion, the H63D carrier frequency in healthy Lebanese is comparable to other populations in the region, and it does not result in significant biochemical iron overload. Moreover, in the absence of the C282Y mutation, genetic screening for HHC is not recommended according to this preliminary study in healthy Lebanese.

Keywords

Hemochromatosis C282Y H63D Lebanon Transferrin saturation Ferritin 

Copyright information

© Springer Science+Business Media B.V. 2011

Authors and Affiliations

  • Rami A. R. Mahfouz
    • 1
  • Doja S. Sarieddine
    • 1
  • Khalil M. Charafeddine
    • 1
  • Rabab N. Abdul Khalik
    • 1
  • Najwa K. Cortas
    • 1
  • Rose T. Daher
    • 1
  1. 1.Department of Pathology and Laboratory MedicineAmerican University of Beirut Medical CenterBeirutLebanon

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