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However, HFE is only part of the story, since many patients with mutated HFE do not manifest clinical iron overload, and some patients with iron overload have a normal HFE genotype. A possible explanation is the fact that HFE normally plays a role in the production of hepcidin in the liver, a function that is impaired in HFE mutations. [49]
This mutation is associated with diverse health issues, however H63D syndrome is the only known specific expression of a homozygous HFE-H63D mutation to date. The homozygous HFE-H63D mutation is the cause of classic and treatable hemochromatosis in only 6.7% of its carriers. [25] H63D syndrome is independently a distinct entity, and the ...
Majority of the cases of hemochromatosis are caused by mutations in the HFE (Homeostatic Iron Regulator) gene. [17] Type 3 HH is characterized by compound heterozygote mutations in both transferrin receptor 2 (TFR2) and HFE, i.e. a single mutation in each gene. HFE is located on chromosome 6 and TFR2 is located on chromosome 7.
At least 42 mutations involving HFE introns and exons have been discovered, most of them in persons with hemochromatosis or their family members. [25] Most of these mutations are rare. Many of the mutations cause or probably cause hemochromatosis phenotypes, often in compound heterozygosity with HFE C282Y.
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
567 12010 Ensembl ENSG00000166710 ENSG00000273686 ENSMUSG00000060802 UniProt P61769 P01887 RefSeq (mRNA) NM_004048 NM_009735 RefSeq (protein) NP_004039 NP_033865 Location (UCSC) Chr 15: 44.71 – 44.72 Mb Chr 2: 121.98 – 121.98 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse β 2 microglobulin (B2M) is a component of MHC class I molecules. MHC class I molecules have α 1, α 2, and ...
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
An additional aggravating mutation affecting variegate porphyria can be found at 6p21.3 on the HFE gene. [ 7 ] A 2006 clinical, biochemical and mutational study of eight Swiss variegate porphyria patients and their families found four novel PPOX gene mutations believed to be unique to the Swiss population.