Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants
نویسندگان
چکیده
منابع مشابه
Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil.
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, H63D and S65C. In...
متن کاملSolid-phase amplification for detection of C282y and H63D hemochromatosis (HFE) gene mutations.
BACKGROUND There is a need for simple, rapid, and inexpensive methods for the detection of single-nucleotide polymorphisms. Our aim was to develop a single-tube ELISA-like PCR assay and evaluate it by detecting the common C282Y and H63D mutations found in the hemochromatosis gene (HFE) by use of clinical samples. METHODS The method, termed solid-phase amplification (SPA), involves dual liquid...
متن کاملPrevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.
CONTEXT Population-based estimates of the prevalence of disease-associated mutations, such as hemochromatosis (HFE) gene mutations, are needed to determine the usefulness of genetic screening. OBJECTIVE To estimate the prevalence of the HFE mutations C282Y and H63D in the US population. DESIGN Cross-sectional population-based study of samples in the DNA bank from phase 2 of the Third Nation...
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...
متن کاملHFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
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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ژورنال
عنوان ژورنال: Annals of Hematology
سال: 2009
ISSN: 0939-5555,1432-0584
DOI: 10.1007/s00277-008-0679-1