|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:blood_disorder
|
|
gptkbp:affects
|
gptkb:hemoglobin
|
|
gptkbp:canBeDetectedPrenatally
|
yes
|
|
gptkbp:cause
|
shortness of breath
irritability
weakness
frequent infections
delayed puberty
dark urine
poor appetite
yellowish skin
|
|
gptkbp:causedBy
|
mutations in HBA or HBB genes
|
|
gptkbp:complication
|
gptkb:liver_disease
heart failure
bone deformities
growth retardation
|
|
gptkbp:diagnosedBy
|
gptkb:blood_test
genetic testing
|
|
gptkbp:firstDescribed
|
1925
|
|
gptkbp:hasCarrierState
|
gptkb:thalassemia_minor
|
|
gptkbp:hasSevereForm
|
gptkb:thalassemia_major
|
|
gptkbp:ICD-10_code
|
D56
|
|
gptkbp:MeSH_ID
|
D013792
|
|
gptkbp:namedAfter
|
Greek word 'thalassa' meaning sea
|
|
gptkbp:OMIM
|
604131
|
|
gptkbp:prevalence
|
gptkb:Middle_East
gptkb:South_Asia
gptkb:Mediterranean_region
|
|
gptkbp:prevention
|
genetic counseling
carrier screening
|
|
gptkbp:relatedTo
|
sickle cell disease
hemoglobinopathies
|
|
gptkbp:riskFactor
|
family history
ethnic background
|
|
gptkbp:symptom
|
gptkb:anemia
fatigue
jaundice
enlarged spleen
pale skin
|
|
gptkbp:transmission
|
autosomal recessive inheritance
|
|
gptkbp:treatment
|
blood transfusion
bone marrow transplant
iron chelation therapy
|
|
gptkbp:type
|
beta thalassemia
alpha thalassemia
|
|
gptkbp:bfsParent
|
gptkb:Hematologist
gptkb:Red_Blood_Morphology
gptkb:Stem_Cell_Therapy
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Thalassemia
|