Congenital atransferrinemia

Orpha code: 1195OMIM code: 209300

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.

Disease data
Classification

Disease

Synonyms
Congenital hypotransferrinemia
Wrodzona hipotransferynemia
ORPHA code
1195
OMIM code
209300
ICD10 code
E88.0
ICD11 code
5D0Y

No additional description.

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