Multicentric Origin of Hemochromatosis Gene (HFE) Mutations
نویسندگان
چکیده
منابع مشابه
Mutations in the hemochromatosis gene (HFE) and stroke.
BACKGROUND AND PURPOSE Increased serum iron is found to be a risk factor for stroke. Carriers of HFE C282Y and H63D mutations have elevated serum iron levels and may have an increased risk for stroke. We studied the association between HFE gene mutations, carotid atherosclerosis, and stroke. METHODS We compared the frequency of the HFE C282Y and H63D gene mutations in 202 prevalent and incide...
متن کاملHemochromatosis (HFE) gene mutations in Brazilian chronic hemodialysis patients.
Patients with chronic renal insufficiency (CRI) have reduced hemoglobin levels, mostly as a result of decreased kidney production of erythropoietin, but the relation between renal insufficiency and the magnitude of hemoglobin reduction has not been well defined. Hereditary hemochromatosis is an inherited disorder of iron metabolism. The importance of the association of hemochromatosis with trea...
متن کاملAnalysis of HFE And Non-HFE Gene Mutations in Brazilian Patients with Hemochromatosis
BACKGROUND Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2) and ferroportin 1...
متن کاملfrequency and biochemical expression of hemochromatosis (hfe) gene mutations in 1029 blood donors in iran
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...
متن کاملLow frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis
BACKGROUND Hereditary hemochromatosis (HH) is a common autosomal recessive disorder in populations of European descent. It is characterized by a variable prevalence of mutations in the hemochromatosis gene (HFE) in different countries and a complex relationship between the HFE genotype and the HH phenotype. Genetic analysis has not been conducted in Croatian patients with iron overload. The aim...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1999
ISSN: 0002-9297
DOI: 10.1086/302318