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H63D syndrome is a very rare clinical phenotype based on a homozygous mutation of the HFE gene.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.
In the U.S., the frequency of the C282Y and H63D mutations is 5.4% and 13.5%, respectively. Whereas, the worldwide frequency of the C282Y and H63D mutations is about 1.9% and 8.1%, respectively, so mutation in H63D allele are more than C282Y allele. [74] The prevalence of mutations in
[21] [22] Allele frequencies of H63D in ethnically diverse western European populations are 10-29%. [23] and in North American non-Hispanic whites are 14-15%. [24] 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.
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 ...
Other mutations, which inactivate the enzyme (= null alleles) are lethal when inherited homozygously (two defective copies of the TPI gene), but have no obvious effect in heterozygotes (one defective and one normal copy). However, the frequency of heterozygous null alleles is much higher than expected, indicating a heterozygous advantage for ...
A transheterozygote is a diploid organism that is heterozygous at two different loci (genes). Each of the two loci has one natural (or wild type) allele and one allele that differs from the natural allele because of a mutation. Such an organism can be created by crossing together two organisms that carry one mutation each, in two different ...
[9] [10] The minor allele in heterozygous areas of the genome is likely to have mild fitness consequences compared to de-novo mutations because selection has had time to remove deleterious alleles. When allelic gene conversion removes the major allele at these sites organisms are likely to experience a mild decline in fitness.
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.