Haemochromatosis is a genetic disease associated with progressive iron overload, and is common among populations of northern European origin. HLA-H is a recently reported candidate gene for this condition. Two mutations have been identified, a substitution of cysteine for tyrosine at amino acid 282 (C282Y, nucleotide 845) and of histidine for aspartate at amino acid 63 (H63D, nucleotide 187). O...

Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C28...

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...

OBJECTIVES To determine the frequency of hereditary hemochromatosis gene mutations, C282Y and H63D, from 125 autochthonous blood donors originating from a Central region of Spain, to provide epidemiological data about HFE gene in the Iberian Peninsula. METHODS DNA extracted from blood samples was analyzed by PCR-RFLP. Restriction enzymes were Snab I and Bcl I for C282Y and H63D, respectively....

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...

La hemocromatosis hereditaria o genética engloba a un grupo de trastornos en los que distintas mutaciones generan una sobrecarga hierro afecta diferentes órganos y sistemas. Esta enfermedad librada su historia natural puede provocar cirrosis, hepatocarcinoma, diabetes mellitus artropatías entre otras patologías. El compromiso uno más componentes del eje hepcidina-ferroportina sistema metabolism...

BACKGROUND Inadequate hepcidin production leads to iron overload in nearly all types of hemochromatosis. We explored the acute response of hepcidin to iron challenge in 25 patients with HFE-hemochromatosis, in two with TFR2-hemochromatosis and in 13 controls. Sixteen patients (10 C282Y/C282Y homozygotes, 6 C282Y/H63D compound heterozygotes) had increased iron stores, while nine (6 C282Y/C282Y h...

BACKGROUND AND OBJECTIVES In Italy, the prevalence of C282Y is lower than in Northern European countries. We hypothesized a higher prevalence of C282Y in Northern than in Southern Italian populations. We previously identified a nonsense mutation (E168X) in hemochromatosis probands originating from a region in the north-west of Italy. We aimed to define the prevalence of C282Y and E168X in that ...

BACKGROUND Although most patients with hereditary haemochromatosis have HFE C282Y mutations, the lifetime risk to HFE C282Y homozygotes of developing fatal diseases such as hepatocellular carcinoma is uncertain. We have carried out a cross-sectional study to determine the proportion of diagnosed hepatocellular carcinoma patients who are homozygous for the HFE C282Y mutation; and to estimate the...

restriction endonuclease (3). The HFE Cys282Tyr and His63Asp mutations were detected by PCR-RFLP using the restriction endonucleases RsaI and BclI, respectively (4). Among the 100 patients with FV Leiden allele, 5 were heterozygous for the C282Y mutation, 26 were heterozygous for the H63D mutation, 2 were homozygous for the H63D mutation, and 1 was a double heterozygote for both mutations (Tabl...