Atransferrinemia (also called familial hypotransferrinemia) is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood. It 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). The condition is extremely rare, with only 10 documented cases worldwide. There are two forms of this condition that cause an absence of transferrin in the affected individual:
- Acquired atransferrinemia
- Congenital atransferrinemia
Contact the Genetic and Rare Diseases (GARD) Information Center for more information on atransferrinemia.
For more information on rare genetic disorders, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/
