Rare genetic defects leading to iron overload
Disease . | Inheritance . | Gene . | Clinical features . |
|---|---|---|---|
| Hypotransferrinemia | AR | TF | Anemia, iron overload |
| Aceruloplasminemia | AR | CP | Anemia, iron overload |
| DMT1 defects | AR | SLC11A2 | Anemia, iron overload, neurologic symptoms |
| Hyperferritinemia-cataract* | AD | L-ferritin | Bilateral cataract |
| African iron overload | ? | ? | Iron overload |
| Neonatal hemochromatosis | ? | ? | Liver failure, iron overload |
Disease . | Inheritance . | Gene . | Clinical features . |
|---|---|---|---|
| Hypotransferrinemia | AR | TF | Anemia, iron overload |
| Aceruloplasminemia | AR | CP | Anemia, iron overload |
| DMT1 defects | AR | SLC11A2 | Anemia, iron overload, neurologic symptoms |
| Hyperferritinemia-cataract* | AD | L-ferritin | Bilateral cataract |
| African iron overload | ? | ? | Iron overload |
| Neonatal hemochromatosis | ? | ? | Liver failure, iron overload |
DMT1 indicates divalent metal transporter 1; AR, autosomal recessive; SLC11A2, solute carrier family 11, member 2; AD, autosomal dominant; ?, uncertainty of the genetic condition (see “Rare genetic defects of iron loading” for details).
The condition is not characterized by systemic iron overload.