Atif Zaman
Abstract
Hemochromatosis, a common genetic disorder characterized by iron overload, is usually caused by mutations in the HFE gene. The C282Y homozygous genotype is the mutation most often implicated in the disorder; C282Y/H63D compound heterozygosity has been less well studied. To learn more about clinical outcomes associated with this heterozygous profile, …
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Hemochromatosis, a common genetic disorder characterized by iron overload, is usually caused by mutations in the HFE gene. The C282Y homozygous genotype is the mutation most often implicated in the disorder; C282Y/H63D compound heterozygosity has been less well studied. To learn more about clinical outcomes associated with this heterozygous profile, …
Key concepts: Compound heterozygosity, Hemochromatosis, Hereditary hemochromatosis, Loss of heterozygosity, Medicine, Heterozygote advantage, Genetic disorder, Genetics