atransferrinemia

Term ID

DOID:0050649

Synonyms

• familial hypotransferrinemia

Definition

A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. (3)

References

• GARD:9595
• NCI:C125693
• OMIM:209300
• ORDO:1195

Ontology

Human Disease   ( DOID:0050649 )