beta-thalassemia

GPTKB entity

Statements (46)
Predicate Object
gptkbp:instanceOf genetic disorder
hemoglobin
blood disorder
gptkbp:affects hemoglobin production
gptkbp:causedBy mutations in HBB gene
gptkbp:complication gptkb:liver_disease
heart failure
endocrine disorders
gptkbp:diagnosedBy blood test
genetic testing
gptkbp:firstDescribed 1925
gptkbp:frequency common in malaria-endemic regions
gptkbp:hasCarrierState yes
https://www.w3.org/2000/01/rdf-schema#label beta-thalassemia
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:virus
gptkb:Beam_Therapeutics
gptkbp:bfsLayer 5