Authors: Rami A R Mahfouz Doja S Sarieddine Khalil M Charafeddine Rabab N Abdul Khalik Najwa K Cortas Rose T Daher
Publish Date: 2011/05/07
Volume: 39, Issue: 1, Pages: 753-759
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 ironoverload status in identified carriers versus those found to be wildtype 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 258 241 heterozygous and 17 homozygous TS and ferritin differed significantly between genders TS and ferritin were significantly higher in males with H63D mutation when compared to males with wildtype P = 0001 0019 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 wildtype 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 LebaneseThis study was supported by a fund from the Medical Practice Plan and from the Chairman’s fund of the Pathology and Laboratory Medicine Department at the American University of Beirut Medical Center The authors are also grateful to Dr Ghazi Zaatari Department Chairman for his continuous support
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