An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Thalassemia | MONDO:0000984 | 15 | |
| Beta-thalassemia and related diseases | MONDO:0017145 | 13 | |
| Congenital nonspherocytic hemolytic anemia | MONDO:0006506 | 13 | |
| Hereditary methemoglobinemia | MONDO:0018963 | 5 | |
| Sickle cell disease | MONDO:0011382 | 4 | HBB |
| Sickle cell-beta-thalassemia disease syndrome | MONDO:0016668 | 2 | |
| Hemoglobin C disease | MONDO:0016242 | ||
| Hemoglobin D disease | MONDO:0019537 | ||
| Hemoglobin E disease | MONDO:0016243 | ||
| Hemoglobinopathy Toms River | MONDO:0017238 | ||
| Hereditary persistence of fetal hemoglobin | MONDO:0020989 | ||
| Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | MONDO:0016672 | ||
| Homozygous hemoglobin O Arab disease | MONDO:0979355 | ||
| Sickle cell-hemoglobin E disease syndrome | MONDO:0016671 | ||
| Sickle cell-hemoglobin d disease syndrome | MONDO:0016670 | ||
| Sulfhemoglobinemia, congenital | MONDO:0008502 | ||
| Unstable hemoglobin disease | MONDO:0020459 |
Rare disease
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