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Inherited hemoglobinopathy
rareAn inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.
- Identifiers
- MONDO:0019050 Orphanet:68364
- Also known as
- Hemoglobinopathies / iron metabolism · hereditary hemoglobinopathy
Subtypes
Disease Rare Not rare Subtypes
- 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 HBB 4
- 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
Projects
Including projects on subtypes.
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