IEMbase 0206: TF-related hereditary transferrin deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 206 |
| Nosology | 22.2.11.01 |
| Gene | TF |
| External IDs | OMIM:209300; ORPHA:1195 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No direct target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as TF-related hereditary transferrin deficiency, with alternate labels atransferrinemia and TF. Treatability is marked unknown.
The biochemical rows include increased liver iron and decreased serum transferrin. Characteristic clinical rows include hypochromic anemia, growth retardation, hemosiderosis, and recurrent infections. The treatment row lists plasma transfusion fortified with oral iron.
DisMech phenotype coverage
No local DisMech entry covers TF-related atransferrinemia. Hemochromatosis.yaml
shares the downstream concept of tissue iron overload but is mechanistically
opposite in important ways: hereditary hemochromatosis is primarily
hepcidin-insufficient iron hyperabsorption with high transferrin saturation,
whereas atransferrinemia is a transferrin-deficiency disorder with severe
anemia plus tissue iron deposition. The anemia and transferrin replacement
logic make it unsuitable as a hemochromatosis subtype.
Concordance and completeness
Judgement: true local disease gap.
IEMbase provides a small but distinctive transferrin-deficiency profile: TF/atransferrinemia identity, very low serum transferrin, hypochromic anemia, growth failure, infections, hemosiderosis, liver iron accumulation, and plasma plus iron treatment. DisMech currently has no canonical target for this mechanism.
Curation actions
- Do not map this record to
Hemochromatosis.yaml. - Consider a future TF-related atransferrinemia entry under iron transport disorders.
- Seed that future entry with low transferrin, hypochromic anemia, paradoxical tissue/liver iron overload, growth retardation, recurrent infections, hemosiderosis, and plasma transfusion with iron replacement.