Hemochromatosis (HFE: H63D, S65C, C282Y) (3)
Hemochromatosis is hereditary systemic disease described with iron accumulation in the body, causing damage of almost all organs and tissues. Disease development is associated to HFE hemochromatosis gene mutations. Severe, multiple organ pathology is developed in the event of untimely treatment.
Hemochromatosis gene encodes the protein much similar to the proteins of the main histocompatibility complex - HLA in properties. Changes in its structure are the cause of impaired transport of iron into the cytoplasm and its accumulation in tissues.