Inherited and acquired disorders characterized by ineffective erythropoiesis as the major mechanism of anemia
| Inherited disorders |
| Thalassemia |
| Transfusion-dependent β-thalassemia (also known as β-thalassemia major) |
| Nontransfusion-dependent β-thalassemia (also known as β-thalassemia intermedia; including β-thalassemia/Hb E) |
| Inherited sideroblastic anemias |
| X-linked sideroblastic anemia, associated with mutations in ALAS2 |
| Autosomal recessive sideroblastic anemia, associated with mutations in SLC25A38 |
| CDAs |
| CDA type I, associated with mutations in CDAN1 or CDIN1 |
| CDA type II, associated with biallelic mutations in SEC23B |
| CDA type III, associated with a unique mutation in KIF23 |
| CDA type IV, associated with a unique mutation in KLF1 |
| Acquired disorders |
| Megaloblastic anemias |
| MDSs |
| SF3B1-mutant MDS |
| Inherited disorders |
| Thalassemia |
| Transfusion-dependent β-thalassemia (also known as β-thalassemia major) |
| Nontransfusion-dependent β-thalassemia (also known as β-thalassemia intermedia; including β-thalassemia/Hb E) |
| Inherited sideroblastic anemias |
| X-linked sideroblastic anemia, associated with mutations in ALAS2 |
| Autosomal recessive sideroblastic anemia, associated with mutations in SLC25A38 |
| CDAs |
| CDA type I, associated with mutations in CDAN1 or CDIN1 |
| CDA type II, associated with biallelic mutations in SEC23B |
| CDA type III, associated with a unique mutation in KIF23 |
| CDA type IV, associated with a unique mutation in KLF1 |
| Acquired disorders |
| Megaloblastic anemias |
| MDSs |
| SF3B1-mutant MDS |
This is not an exhaustive list of conditions with ineffective erythropoiesis.
CDAs, congenital dyserythropoietic anemias; Hb E, hemoglobin E.