Atransferrinemia (inherited condition) is an autosomal recessive metabolic disorder in which there is an absence oftransferrin, a plasma protein that transports iron through the blood, which results in a buildup of iron in the body's tissues as well as anemia.
Atransferrinemia is characterized by anemia and hemosiderosis 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). Atransferrinemia is extremely rare, with only eight cases documented worldwide.
First clinical signs:
- Severe microcytic hypochromic anemia,
- Growth retardation and
- Recurrent infections
- Iron overload occurs mainly in the liver, heart, pancreas, thyroid,kidney and bone joints
- Leading to mild to severe symptoms of liver and heart failure, arthropathy and hypothyroidism
- Liver storage disease
- Iron deposits in peripheral tissue
- Secondary hemochromatosis
- Death may occur due to heart failure or pneumonia
Treatment with infusions of plasma or purified apotransferrin may stabilise or correct the anemia and growth defects.