| Metadata | |
|---|---|
| ID | DOID:0080773 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080773 Copy |
| Name | delta beta-thalassemia |
| Definition | A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. https://pubmed.ncbi.nlm.nih.gov/31444804/, https://pubmed.ncbi.nlm.nih.gov/30706898/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:16360009 |
| SKOS |
exactMatch NCI:C172823 exactMatch GARD:0017165 exactMatch MESH:C562716 exactMatch ICD10CM:D56.2 exactMatch UMLS_CUI:C0271985 exactMatch ORDO:231237 exactMatch ICD9CM:282.45 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a autosomal dominant disease is_a beta thalassemia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |