Disease | Cause of Iron Loading |
---|---|
Atransferrinemia | Mutations in transferrin |
Aceruloplasminemia | Mutations in ceruloplasmin |
X-Linked hereditary sideroblastic anemia | Mutations inALAS2 2-a ineffective erythropoiesis |
Thalassemia major | Ineffective erythropoiesis |
Congenital dyserythropoietic anemia | Ineffective erythropoiesis |
Pyruvate kinase deficiency and other red cell enzyme deficiencies | Transfusions and ineffective erythropoiesis |
↵2-a Erythroid 5-aminolevulinate synthase.