non-transfusion-dependent thalassemia
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:anemia
medical condition |
| gptkbp:alternativeName |
gptkb:NTDT
mild thalassemia |
| gptkbp:causedBy |
mutation in HBB gene
mutation in HBA1 gene mutation in HBA2 gene |
| gptkbp:complication |
gptkb:bone
pulmonary hypertension gallstones iron overload leg ulcers |
| gptkbp:distinctFrom |
gptkb:transfusion-dependent_thalassemia
|
| gptkbp:hasDiagnosticMethod |
genetic testing
complete blood count hemoglobin electrophoresis |
| https://www.w3.org/2000/01/rdf-schema#label |
non-transfusion-dependent thalassemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
higher in Mediterranean, Middle Eastern, South Asian, and Southeast Asian populations
|
| gptkbp:subspecies |
gptkb:hemoglobin_E/beta-thalassemia
gptkb:alpha-thalassemia_(HbH_disease) gptkb:beta-thalassemia_intermedia |
| gptkbp:symptom |
gptkb:anemia
fatigue jaundice splenomegaly |
| gptkbp:treatment |
gptkb:hydroxyurea
folic acid supplementation iron chelation therapy blood transfusion (occasional) |
| gptkbp:bfsParent |
gptkb:Exjade
|
| gptkbp:bfsLayer |
5
|