Definition of Hereditary atransferrinemia
Hereditary atransferrinemia: A genetic disorder in which there is absence of transferrin, a plasma protein that transports iron through the blood.
Atransferrinemia is characterized by anemia and hemosiderosis (iron deposition) in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale).
The disease is inherited as an autosomal recessive trait. It is due to mutation of both of a person's transferrin genes. The gene is in chromosome band 3q21.
Atransferrinemia can be treated effectively by plasma infusions of transferrin.
Last Editorial Review: 6/14/2012
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