臨床および実験腫瘍学ジャーナル

Hereditary haemochromatosis

Chandapure Sindhura

Iron is an essential element for the living body. It is stored in human body in the form of ferritin and hemosiderin in various locations like liver, spleen, marrow, duodenum, skeletal muscle and other anatomic areas. Human body lack iron excretion function, the transformation of ferritin into hemosiderin reduces iron toxicity. If there is an increase in level of non transferrin-bound iron, both in whole body iron overload and in localized iron deposition it leads to hazardous free radicals which further leads to various disorders. Hereditary hemochromatosis is generally caused by certain variants in the HFE gene. If two of these variants are inherited, one from each parent, then it leads to hereditary hemochromatosis and risk of developing high iron levels. The faulty haemochromatosis gene (HFE) is present on the short arm of 6 chromosome. The candidate gene HFE for Hereditary haemochromatosis (HH) , encodes a major histocompatability complex class 1-like molecule that is involved in iron uptake. C282Y and H63D are two common mutations.A single mutation, 845A in the gene leads to substitution of tyrosine for cysteine at 282 amino acid in C282Y, it is a missense mutation