Hereditary haemochromatosis

Hereditary haemochromatosis is an inherited disorder in which excessive intestinal iron absorption leads to iron accumulation and can damage organs, especially the liver, heart, and pancreas.

HFE gene: A gene encoding a protein that helps regulate iron absorption by influencing hepcidin production. Most cases arise from variants in this gene that disrupt iron regulation.
Iron metabolism: The processes that absorb, transport, store, and recycle iron in the body. The disorder results from altered control within this system.
Serum ferritin: A blood measurement of ferritin, a protein that stores iron inside cells. It helps estimate iron stores, though inflammation and liver disease can also raise it.
Ferroportin disease: An inherited iron disorder caused by variants in the SLC40A1 gene encoding ferroportin. It can cause iron overload but differs genetically and often has a different iron-distribution pattern.
Hepcidin: A peptide hormone produced mainly by the liver that limits iron entry into blood. Inappropriately low hepcidin permits continued intestinal iron absorption.
Intestinal iron absorption: The movement of dietary iron from the intestine into the body. Its excessive regulation-independent uptake initiates iron accumulation.
Liver biopsy: A procedure that removes a small liver sample for microscopic and chemical analysis. It can assess liver injury and iron when noninvasive tests are insufficient.
Juvenile haemochromatosis: A rare, early-onset iron-overload disorder usually caused by HJV or HAMP variants. It resembles HFE disease but often causes severe complications at a younger age.
Ferroportin: A membrane protein that exports iron from cells into the bloodstream. Hepcidin controls ferroportin, linking iron absorption to systemic iron levels.
Autosomal recessive inheritance: Inheritance in which a condition typically requires pathogenic variants in both gene copies. Common HFE-related disease usually follows this inheritance pattern.

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