Table 3.
A list of genes involved in neurodegeneration with iron accumulation in the brain (NBIA).
| S. No. | Gene (OMIM) | Inheritance | Protein | Disorder (OMIM) | Role in Fe Metabolism | Other | Treatment |
|---|---|---|---|---|---|---|---|
| 1 |
SLC11A2
(600523) |
Autosomal recessive | DMT1 | Anemia, hypochromic microcytics with iron overload 1 (206,100) | Duodenal uptake Intracellular release | Increased Cu in brain associated with impulsivity in a rat model |
Erythropoietin (EPO) |
| 2 |
TMPRSS6
(609862) |
Autosomal recessive | Matriptase 2 | Iron-refractory, iron deficiency anemia (206,200) | Mutations lead to high hepcidin levels | ----- | ----- |
| 3 |
STEAP3
(609671) |
Autosomal dominant | STEAP3 | Anemia, hypochromic microcytics with iron overload 2 (615,234) | For cytoplasmic uptake endosomal ferrireductase is required | Hepatosplenomegaly Hypopituitarism Hypogonadism |
Transfusion Fe chelation |
| 4 |
TFRC
(190010) |
Autosomal recessive | Transferrin receptor 1 |
Immunodeficiency 46 (616,740) | Cellular uptake | Combined immunodeficiency Leukopenia Thrombocytopenia |
----- |
| 5 |
TF
(190000) |
Autosomal recessive | Transferrin | Atransferrinemia (209,300) | Fe transport in blood, uptake | Growth retardation (TF < 20 mg/dL) | Plasma infusions |