transfusion-dependent thalassemia
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
hematologic disorder |
| gptkbp:affects |
hemoglobin production
|
| gptkbp:alternativeName |
gptkb:beta-thalassemia_major
gptkb:TDT |
| gptkbp:causedBy |
mutation in HBB gene
|
| gptkbp:complication |
gptkb:liver_disease
cardiac disease iron overload endocrine dysfunction |
| gptkbp:hasDiagnosticMethod |
genetic testing
hemoglobin electrophoresis |
| https://www.w3.org/2000/01/rdf-schema#label |
transfusion-dependent thalassemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
higher in Mediterranean, Middle Eastern, South Asian, and African populations
|
| gptkbp:requires |
lifelong transfusion support
|
| gptkbp:riskFactor |
family history of thalassemia
|
| gptkbp:subspecies |
gptkb:anemia
|
| gptkbp:symptom |
gptkb:anemia
fatigue jaundice pallor |
| gptkbp:treatment |
hematopoietic stem cell transplantation
iron chelation therapy regular blood transfusions |
| gptkbp:bfsParent |
gptkb:non-transfusion-dependent_thalassemia
|
| gptkbp:bfsLayer |
6
|