نتایج جستجو برای: h63d
تعداد نتایج: 365 فیلتر نتایج به سال:
Hereditary hemochromatosis (HH) is the most frequent genetic disease in populations of European origin. The HH gene was cloned by Feder et al. in 1996, and 2 major mutations were discovered: C282Y and H63D. Geographical differences with mutation frequencies have been published (1, 2) with a decreasing gradient of occurrence in Europe from north to south. HH leads to liver iron overload and rais...
To identify a new marker of expression of disease, independent of HFE genotype in patients with hereditary haemochromatosis (HHC), the total peripheral blood lymphocyte counts were analysed according to iron status in two groups of subjects with HFE mutations. The groups consisted of 38 homozygotes for C282Y, and 107 heterozygotes for the C282Y or compound heterozygotes for C282Y and H63D. For ...
Classic hereditary hemochromatosis is an autosomal recessive disorder characterized by iron overload and sequence variants in the HFE gene. The HFE gene is located at 6p21.3 and contains 2 common single nucleotide polymorphisms (SNPs) C282Y and H63D, which are routinely tested for in the molecular diagnostics laboratory. In this study, we used DNA samples from 59 patients in which clinicians wa...
Background : Finding an association between HFE mutations and hepatitis C especially in those with iron overload is the focus of recent researches. We examined the frequency of these mutations and ferritin level in a group of patients with different stages of hepatitis B and healthy individuals. Materials and methods : A total of 75 (18 carrier, 57 chronic) cases of HBsAg positive patients and...
Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer.
BACKGROUND Iron is a pro-oxidant that may promote carcinogenesis. Mutations in the hemochromatosis (HFE) gene are associated with increased total body iron stores in some individuals. We assessed the risk of colon cancer among individuals with and without HFE gene mutations. METHODS We performed a population-based, case-control study in North Carolina. Case patients with colon cancer and cont...
To the Editor: In her recent letter to BLOOD, Dr Lynas reports the development of a ‘‘cheaper and more rapid polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) technique’’1 for detection of mutations in HFE,2 the candidate gene for hemochromatosis. The PCR-RFLP method discussed by Dr Lynas uses Rsa I and Bcl I to cleave products amplified using primers designed by F...
The diagnosis of cryptogenic cirrhosis is an exclusion diagnosis. It has become far less frequent over the last decades , but it still effects a significant number of patients. Many previously unknown chronic liver disease entities were described in the second half of the last century, including chronic viral hepatitis B, C and D, along with refined criteria for diagnosing autoimmune hepatitis ...
BACKGROUND The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in Z-1AT patients, it seems that liver disease progression is linked to still unknown genetic factors...
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...
UNLABELLED The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study to estimate the prevalence of elevated iron indices and hemochromatosis-related morbidity for compound heterozygotes. In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stra...
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