Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
blood disorder |
| gptkbp:affects |
hemoglobin production
|
| gptkbp:cause |
gallstones
iron overload growth retardation |
| gptkbp:complication |
pulmonary hypertension
extramedullary hematopoiesis leg ulcers |
| gptkbp:diagnosedBy |
blood test
genetic testing |
| gptkbp:hasSeverity |
intermediate between thalassemia minor and thalassemia major
|
| https://www.w3.org/2000/01/rdf-schema#label |
beta-thalassemia intermedia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:HBB_gene
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
gptkb:Mediterranean_populations
gptkb:Middle_Eastern_populations gptkb:South_Asian_populations |
| gptkbp:symptom |
jaundice
splenomegaly bone deformities mild anemia |
| gptkbp:treatment |
blood transfusions
folic acid supplementation iron chelation therapy |
| gptkbp:type |
gptkb:beta-thalassemia
|
| gptkbp:bfsParent |
gptkb:beta-thalassemia
gptkb:non-transfusion-dependent_thalassemia |
| gptkbp:bfsLayer |
6
|