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Atransferrinemia

Abstract

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NORD is very grateful to Alex Knisely, MD, Institute of Liver Studies/Histopathology, King's College Hospital, London, UK, for assistance in the preparation of this report.

Synonyms of Atransferrinemia

congenital atransferrinemia
hereditary atransferrinemia
hypotransferrinemia

Disorder Subdivisions

No subdivisions found.

General Discussion

Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood (hypochromic, microcytic anemia) and by the accumulation of excess iron in the body (hemosiderosis). Symptoms may vary based upon the severity of anemia and upon the extent of iron accumulation in the body and the specific organs affected. Common symptoms include recurrent infections and growth delays. Atransferrinemia is principally caused by mutations of the transferrin (TF) gene and is inherited as an autosomal recessive trait. Atransferrinemia is classified as an iron overload disorder. A milder form of atransferrinemia, known as hypotransferrinemia, is caused by mutations in the same gene.

Organizations related to Atransferrinemia

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