Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a Group of Iranian Patients With Cryptogenic Cirrhosis

AUTHORS

Zahra Jowkar 1 , Bita Geramizadeh 2 , * , Mahmoud Shariat 1

1 Department of Pathology, Shiraz University of Medical Science, IR Iran

2 1) Department of Pathology, Shiraz University of Medical Science, Shiraz, IR Iran.2) Transplant Research Center, Shiraz University of Medical Science, [email protected], IR Iran

How to Cite: Jowkar Z, Geramizadeh B, Shariat M. Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a Group of Iranian Patients With Cryptogenic Cirrhosis, Hepat Mon. Online ahead of Print ; 11(11):887-889. doi: 10.5812/kowsar.1735143x.781.

ARTICLE INFORMATION

Hepatitis Monthly: 11 (11); 887-889
Article Type: Research Article
Received: January 10, 2011
Accepted: October 25, 2011
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Abstract

Background: The human HFE gene (a key component of iron homeostasis in humans) is involved in hereditary hemochromatosis, a common autosomal recessive genetic disorder that is characterized by excessive intestinal iron absorption and progressive iron overload.
Objectives: In this study, we assessed the frequency of two common forms of hemochromatosis HFE gene mutation (C282Y and H63D) in patients suffering from cryptogenic cirrhosis.
Patients and Methods: One hundred and fifty individuals were included in this study, in which 100 were patients with cryptogenic cirrhosis and 50 were from the normal population. All individuals were examined for common HFE gene mutations by amplification of nucleotide 845 C282Y and 187 H63D alleles and product analysis using the polymerase chain reaction method and restriction enzyme digestion.
Results: No case of either a homozygous or heterozygous C282Y mutation was found. For the H63D mutation, no homozygosity was detected but heterozygosity was detected in 22% of patients and in 28% of the normal population.
Conclusions: Hereditary hemochromatosis is not a major cause of cryptogenic cirrhosis in the Iranian population.


Implication for health policy/practice/research/medical education:
Hemochromatosis is a common disease in in western countries but by reading this article hepatologists will realize that this disease play a minor role in cirrhosis in Iran.

Please cite this paper as:
Jowkar Z ,Geramizadeh B, Shariat M. Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a Group of Iranian Patients With Cryptogenic Cirrhosis. Hepat Mon.2011;11(11): 887-889. DOI: 10.5812/kowsar.1735143x.781

Keywords

Mutation Iran Liver Cirrhosis Genes

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