Abstract

HEREDIATRY HEMOCHROMATOSIS “AN ETIOLOGICAL CONCEPT”

Priya Shah*, Ankit Verma and Lalit Rana

.

Abstract

Hemochromatosis is now considered as an inherited autosomal recessive disorder. In 1935 it was identified as inherited disease. It mainly occur in caucasian with a prevalence of 1 in 300 to 500 individual. In this disorder iron is deposited in many organ and due to this, various complication arises like cirrhosis and fibrosis. HFE gene, which is located on chromosome no. 6 is responsible for the absorption regulation of iron in the body. HFE gene produce a protein called HFE protein that is bound to transferrin and thus regulate the absorption of iron from intestine. Mutation in the HFE gene cause production of altered protein, this can ultimately lead to the disruption in the absorption of iron. Low hepcidin secretion leads to increased duodenal absorption of dietary iron, most commonly in C282Y homozygous individual.

Keywords: Cirrhosis, Ferritin, Hemochromatosis, Hepicidin, HFE Protein.