Common Mutation of HFE among Iranian patients

Introduction: Hereditary hemochromatosis has a heterogeneous etiology; type 1 hemochromatosis due to mutations in the HFE gene is inherited in an autosomal recessive pattern. It is characterized by fatigue, joint pain, abdominal pain and weight loss. Here, HFE mutations are investigated in patients in Rajaei hospital.Materials & Methods: A total of 5 people with hereditary hemochromatosis who had early symptoms of the disease was studied. DNA was extracted from peripheral blood samples. All coding regions of HFE gene was amplified using PCR and sequenced.Results: The mean age of patients was 39 years, ranging from 12 years to 57 years. The c.187C> G variant was observed in 2 individuals. It was founds as a homozygous variant in 1 patient and heterozygote in other affected individualConclusion & discussion: HFE gene may not be common cause of hemochromatosis among Iranian patients.

Keywords:

HFE , Genotype , PCR.