Beta Thalassemia

GPTKB entity

Statements (40)
Predicate Object
gptkbp:instanceOf genetic disorder
blood disorder
gptkbp:affects hemoglobin
gptkbp:alsoKnownAs gptkb:Cooley's_anemia
gptkbp:causedBy mutations in HBB gene
gptkbp:complication gptkb:liver_disease
heart failure
bone deformities
iron overload
gptkbp:diagnosedBy blood test
genetic testing
gptkbp:firstDescribed 1925
https://www.w3.org/2000/01/rdf-schema#label Beta Thalassemia
gptkbp:ICD-10_code D56.1
gptkbp:inheritance autosomal recessive
gptkbp:managedBy hematologist
gptkbp:MeSH_ID D013789
gptkbp:OMIM 613985
gptkbp:prevalence gptkb:Middle_East
gptkb:South_Asia
gptkb:Southeast_Asia
gptkb:Mediterranean_region
gptkbp:prevention prenatal screening
genetic counseling
gptkbp:riskFactor family history
ethnic background
gptkbp:subspecies Beta Thalassemia intermedia
Beta Thalassemia major
Beta Thalassemia minor
gptkbp:symptom gptkb:anemia
fatigue
jaundice
enlarged spleen
pale skin
delayed growth
gptkbp:treatment blood transfusion
bone marrow transplant
iron chelation therapy
gptkbp:bfsParent gptkb:Target_Cells
gptkbp:bfsLayer 8