Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder blood disorder |
| gptkbp:affects |
hemoglobin production
|
| gptkbp:alsoKnownAs |
beta thalassemia major
|
| gptkbp:causedBy |
mutations in the HBB gene
|
| gptkbp:complication |
gptkb:liver_disease
heart failure endocrine disorders iron overload growth retardation |
| gptkbp:diagnosedBy |
genetic testing
blood tests |
| gptkbp:firstDescribed |
1925
|
| https://www.w3.org/2000/01/rdf-schema#label |
Cooley's anemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:Thomas_Cooley
|
| gptkbp:prevalence |
gptkb:Mediterranean_populations
gptkb:Middle_Eastern_populations gptkb:South_Asian_populations |
| gptkbp:symptom |
fatigue
jaundice enlarged spleen severe anemia pale skin bone deformities delayed growth |
| gptkbp:treatment |
bone marrow transplant
iron chelation therapy regular blood transfusions |
| gptkbp:bfsParent |
gptkb:thalassemia_major
|
| gptkbp:bfsLayer |
6
|