|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:blood_disorder
gptkb:hemoglobin
|
|
gptkbp:affects
|
hemoglobin production
|
|
gptkbp:causedBy
|
mutations in HBB gene
|
|
gptkbp:complication
|
gptkb:liver_disease
heart failure
endocrine disorders
|
|
gptkbp:diagnosedBy
|
gptkb:blood_test
genetic testing
|
|
gptkbp:firstDescribed
|
1925
|
|
gptkbp:frequency
|
common in malaria-endemic regions
|
|
gptkbp:hasCarrierState
|
yes
|
|
gptkbp:ICD-10_code
|
D56.1
|
|
gptkbp:inheritance
|
Mendelian
|
|
gptkbp:inheritsFrom
|
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D013788
|
|
gptkbp:namedAfter
|
Greek letter beta
|
|
gptkbp:OMIM
|
603903
|
|
gptkbp:prevalence
|
gptkb:Middle_East
gptkb:South_Asia
gptkb:Southeast_Asia
gptkb:Mediterranean_region
|
|
gptkbp:prevention
|
prenatal screening
genetic counseling
|
|
gptkbp:proteinAffected
|
beta-globin
|
|
gptkbp:relatedTo
|
gptkb:alpha-thalassemia
sickle cell disease
|
|
gptkbp:riskFactor
|
family history
ethnic background
|
|
gptkbp:subspecies
|
gptkb:beta-thalassemia_intermedia
gptkb:beta-thalassemia_major
gptkb: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:Beam_Therapeutics
|
|
gptkbp:bfsLayer
|
5
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
beta-thalassemia
|