Iron deficiency anaemia due to congenital intestinal malabsorption

Iron deficiency due to hereditary abnormal intestinal absorption is still poorly understood. Several proteins in gut cells contribute to iron absorption and can be defective. One of these proteins, hephaestin is a key component in intestinal iron transport, shedding light on the mechanism by which dietary iron is absorbed into the body. Up to now hephaestin deficiency has been only known through experimental studies but, if existing in humans, it may be a cause of severe microcytic hypochromic anemia.