نتایج جستجو برای: hemochromatosis (hfe) gene polymorphisms
تعداد نتایج: 1171061 فیلتر نتایج به سال:
conclusions polymorphism in the hemochromatosis gene may confer some degree of risk for hcv infection, and individuals carrying the h and c alleles may be susceptible to this disease; however, a larger sample of hcv patients and healthy individuals may be necessary to further illustrate the role of these polymorphisms in hcv. patients and methods hfe gene polymorphisms were examined in a total ...
BACKGROUND Chronic hepatitis C virus (HCV) infection is frequently associated with elevated serum iron markers. Polymorphisms in the hemochromatosis (HFE) genes are responsible for iron accumulation in most cases of hemochromatosis, and may play a role in HCV infection. OBJECTIVES We aimed to assess the prevalence of HFE gene polymorphisms in a group of Iranian HCV-infected patients, and to e...
Malaria is an endemic parasitosis and its causitive agent, Plasmodium, has a metabolism linked to iron supply. HFE is a gene with the polymorphisms C282Y and H63D, which are associated with a progressive iron accumulation in the organism leading to a disease called hereditary hemochromatosis. The aim of the present study was to determine the allelic and genotypic frequencies of the HFE gene pol...
Human hemochromatosis protein (HFE) is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM). However, the effect of other single nucleotide variation (SNV) in the HFE...
background: there are no data on the frequency and biochemical expression of the hemochromatosis associated mutations, c282y and h63d, in iranian adult population. this is the first study among iranians that may advocate a screening program. materials and methods: we investigated the frequency of the c282y/h63d hfe gene mutations in a group of 1029 randomly selected iranian blood donors as well...
Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions. Despite this high prevalence, the mutation cau...
Hereditary hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by increased dietary iron absorption. Due to the absence of an effective excretory mechanism, the excess iron in the body may accumulate resulting in toxic effects. The HFE gene also affects the activity of hepcidin, a hormone which acts as a negative regulator of iron metabolism. In this study, we performe...
Type 1 Hemochromatosis: A Review of the History, Inheritance and Treatment of Iron Overload Disorder
Hereditary hemochromatosis (also known as type 1 hemochromatosis, iron overload disorder, or the Celtic Curse) is a genetic disorder characterized by an autosomal recessive inheritance pattern. This review project focused on gathering comprehensive data about history, causes, inheritance, diagnosis, and treatment of disorder. Through such research, it was discovered that may occur due to one tw...
RATIONALE Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific region. Recently, non-HFE-related hemochromatosis has been reported in patients from the Asian countries. PATIENT CONCERNS We report the case of...
Hereditary hemochromatosis (HFE), which affects 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals in Western population, results in multiple organ damage caused by iron deposition, and is treatable if detected early. C282Y mutation in HFE gene has been known to be responsible for the most hereditary hemochromatosis cases and 5-10% of white subjects are heterozygous for this...
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