Atransferrinemia
Atransferrinemia
Definition
Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
Also known as atransferrinemia, congenital atransferrinemia, congenital hypotransferrinemia, familial hypotransferrinemia, hereditary atransferrinemia — per MONDO