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HomozygoteHeterozygoteGenotypePolymorphism, GeneticAllelesCysteineMutationGene FrequencyRNA, Transfer, TyrMolecular Sequence DataGenetic Predisposition to DiseaseHemochromatosisPolymorphism, Single NucleotideAmino Acid SequencePhenotypeRNA, Transfer, CysDisulfidesTyrosineAmino Acid SubstitutionBase SequenceMutagenesis, Site-DirectedHaplotypesGenetic VariationHeterozygote DetectionCase-Control StudiesPoint MutationApolipoprotein E2Genes, LethalPedigreeBinding SitesMice, Mutant StrainsPolymerase Chain ReactionModels, MolecularGenes, RecessiveAlbinismMutation, MissensePolymorphism, Restriction Fragment LengthCatechol O-MethyltransferaseHyperlipoproteinemia Type IIDNA Mutational AnalysisMethylenetetrahydrofolate Reductase (NADPH2)Protein ConformationCrosses, GeneticGenetic Association StudiesKineticsDNA PrimersAsian Continental Ancestry GroupRisk FactorsCystineSequence Homology, Amino AcidGenetic TestingProtein BindingProtein Structure, TertiaryExonsMembrane ProteinsHyperlipoproteinemia Type IIIDNAGenes, DominantRecombinant ProteinsLinkage DisequilibriumEuropean Continental Ancestry GroupPeroxiredoxinsGenetic MarkersHair ColorChromosome MappingGenetic LinkageStructure-Activity RelationshipHistocompatibility Antigens Class IValineApolipoproteins EHemoglobins, AbnormalModels, GeneticAtaxia TelangiectasiaFerritinsAlanineProtein Structure, SecondaryEscherichia coliArginineOxidation-ReductionCrystallography, X-RayCodonGaucher DiseasePromoter Regions, GeneticCatalysisOxidoreductases Acting on CH-NH Group DonorsXanthomatosisCarrier ProteinsIronHemoglobin ESulfhydryl CompoundsEthylnitrosoureaSequence AlignmentCloning, MolecularSubstrate SpecificityThalassemiaJewsCatalytic Domainalpha 1-Antitrypsin DeficiencyOdds RatioTransferrin

C282YSerum ferritinHomozygousGeneHemochromatosisIronEuropean

C282Y11

• An HFE-stratified random sample of 1438 participants including all C282Y homozygotes with iron studies 12 years apart were examined by physicians blinded to participants' HFE genotype. (nih.gov)
• To determine if genetic variants significantly associated with the risk of alcohol- and NAFLD-related cirrhosis also modulate the cirrhosis risk in C282Y homozygotes. (medscape.com)
• Variants in PCSK7, PNPLA3, TM6SF2, MBOAT7 and HSD17B13 were genotyped in 1319 C282Y homozygotes, from six European countries, of whom 171 (13.0%) had cirrhosis. (medscape.com)
• I 2 = 0%) and the cirrhosis risk in C282Y homozygotes. (medscape.com)
• rs236918 was confirmed in this much larger population of C282Y homozygotes. (medscape.com)
• More detailed genetic testing of C282Y homozygotes would allow risk stratification and help guide future management. (medscape.com)
• Thus, there is considerable variability in the proportion of C282Y homozygotes who develop iron overload. (medscape.com)
• [ 7 ] In a large individual patient meta-analysis of C282Y homozygotes, increased serum ferritin concentrations were found in 32% of men and 26% of women while excess liver iron concentrations were found in 42% of men and 19% of women. (medscape.com)
• C282Y homozygotes account for up to 90% of clinical cases of HH. (medscape.com)
• C282Y homozygotes (A) by the screening test. (cdc.gov)
• Clinical specificity [ D / (B + D) ] is the proportion of individuals not affected with clinical manifestations of primary iron overload (B+D) who are correctly identified as not being C282Y homozygotes (D) by the screening test. (cdc.gov)

Serum ferritin1

• Biochemical HFE hemochromatosis and non-expressing p.Cys282Tyr homozygotes: Begin annual measurement of serum ferritin concentration when serum ferritin concentration exceeds 300 ng/mL (men) and 200 ng/mL (women). (nih.gov)

Homozygous1

• Offer molecular genetic testing to the adult sibs of a proband homozygous for p.Cys282Tyr to allow early diagnosis and surveillance. (nih.gov)

Gene3

• 11. Hemochromatosis gene HFE Cys282Tyr mutation analysis in a cohort of Northeast German hospitalized patients supports assumption of a North to South allele frequency gradient throughout Germany. (nih.gov)
• Patients must have a gene abnormality of Hfe gene Cys282Try homozygote. (nih.gov)
• HH is predominantly attributable to a cysteine to tyrosine substitution at position 282 (p.Cys282Tyr) within the homeostatic iron regulator ( HFE ) gene and is the most common autosomal recessive disorder in adults of northern European origin. (medscape.com)

Hemochromatosis2

• Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE hemochromatosis nor iron overload are present. (nih.gov)
• Offspring of an individual with HFE hemochromatosis inherit one HFE p.Cys282Tyr variant from the parent with HFE hemochromatosis. (nih.gov)

Iron2

• No symptoms suggestive of heart disease or any other medical conditions, negative Hfe genotyping for Cys282Tyr or His63Asp with normal ferritin and iron saturation. (nih.gov)
• Non-expressing p.Cys282Tyr homozygotes: phlebotomy is not indicated, because these individuals do not have iron overload. (nih.gov)

European1

• Because the HFE p.Cys282Tyr heterozygote prevalence in persons of European origin is high (11%, or 1/9), some parents of HFE p.Cys282Tyr homozygotes have two abnormal HFE alleles. (nih.gov)