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A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

Overall, the maintenance of intracellular Cu homeostasis primarily relies on the regulation of Cuproenzymes, Cu chaperones, and Cu transport protein, while disruption of this balance can lead to metabolic disorders and even cell death (Asthana et al., 2014)

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The most common form of HH is caused by mutations in the HFE gene, with most cases of HH presenting in patients who are homozygous for the Cys282Tyr mutation