Atransferrinemia

Hereditary or congenital atransferrinemia, also referred to as hypotransferrinemia, is a very rare, congenital (congenital ) Stoffwechselkerkrankung. Cause is probably genetic mutations in the transferrin gene, so that either too little or no transferrin is formed. The disease is inherited as an autosomal recessive trait.

Transferrin is a protein that plays an important role in iron transport. Iron is needed among others for the formation of the red blood pigment (hemoglobin ), the component of red blood cells (RBCs ) is. When transferrin deficiency too little iron is transported to the places where the red blood cells are formed ( erythropoiesis ). The result is a severe iron deficiency anemia. In other organs, particularly the liver, it comes in addition to a strong iron deposition or iron overload ( hemosiderosis ).

Swell

• Hereditary atransferrinemia at Online Mendelian Inheritance in Man
• Andrews NC: Disorders of iron metabolism. In: N Engl J Med, 1999 Dec 23, 341 (26 ) :1986 -95. PMID 10607817
• D. Ganten, K. Ruck Paul: Handbook of Molecular Medicine, 12 vols Bd.6: Selected monogenic hereditary diseases Springer 1st Edition 1999, p 459 ISBN 978-3540655299
• RL Hamill et al. Congenital atransferrinemia. A case report and review of the literature. In: Am J Clin Pathol, August 1991, 96 ( 2) :215 -8. PMID 1862777

• Metabolic disease
• Hereditary disease
• Disease in pediatrics