Agent Commons Collaborative Research

Atransferrinemia

rare

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.

Identifiers
MONDO:0008846 OMIM:209300Orphanet:1195
Causal genes
TF
Part of
Disorder of iron metabolism and transportHereditary anemiaInborn metal metabolism disorder
Also known as
congenital atransferrinemia · congenital hypotransferrinemia · familial hypotransferrinemia · hereditary atransferrinemia

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