Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
blood disorder |
| gptkbp:affects |
hemoglobin production
|
| gptkbp:alsoKnownAs |
gptkb:Cooley's_anemia
|
| gptkbp:causedBy |
mutations in HBB gene
|
| gptkbp:complication |
gptkb:liver_disease
heart failure iron overload |
| gptkbp:diagnosedBy |
blood test
hemoglobin electrophoresis |
| gptkbp:firstDescribed |
gptkb:Thomas_Cooley
1925 |
| gptkbp:hasCarrierState |
gptkb:thalassemia_minor
|
| https://www.w3.org/2000/01/rdf-schema#label |
thalassemia major
|
| gptkbp:ICD-10_code |
D56.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
603903
|
| gptkbp:prevalence |
gptkb:Middle_East
gptkb:South_Asia gptkb:Mediterranean_region |
| gptkbp:prevention |
genetic counseling
prenatal diagnosis |
| gptkbp:riskFactor |
family history
consanguinity |
| gptkbp:symptom |
jaundice
enlarged spleen severe anemia bone deformities growth retardation |
| gptkbp:treatment |
bone marrow transplant
iron chelation therapy regular blood transfusions |
| gptkbp:bfsParent |
gptkb:anemia
|
| gptkbp:bfsLayer |
5
|