|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:autosomal_recessive_disease
gptkb:hemoglobin
|
|
gptkbp:alsoKnownAs
|
gptkb:Cooley's_anemia
|
|
gptkbp:characterizedBy
|
hepatosplenomegaly
severe anemia
bone deformities
iron overload
ineffective erythropoiesis
|
|
gptkbp:complication
|
gptkb:liver_disease
cardiac failure
growth retardation
endocrine dysfunction
|
|
gptkbp:diagnosedBy
|
genetic testing
hemoglobin electrophoresis
|
|
gptkbp:firstDescribed
|
gptkb:Thomas_Cooley
1925
|
|
gptkbp:frequency
|
common in Mediterranean populations
rare in North America
|
|
gptkbp:ICD-10_code
|
D56.1
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:mutationAssociatedWith
|
gptkb:HBB_gene
|
|
gptkbp:OMIM
|
613985
|
|
gptkbp:onset
|
early childhood
|
|
gptkbp:prevalence
|
gptkb:Middle_East
gptkb:South_Asia
gptkb:Southeast_Asia
gptkb:Mediterranean_region
|
|
gptkbp:prognosis
|
improved survival with modern therapy
reduced life expectancy without treatment
|
|
gptkbp:relatedTo
|
gptkb:alpha-thalassemia
gptkb:beta-thalassemia_intermedia
gptkb:beta-thalassemia_minor
|
|
gptkbp:riskFactor
|
consanguinity
family history of thalassemia
|
|
gptkbp:screening
|
newborn screening
prenatal genetic testing
|
|
gptkbp:symptom
|
fatigue
jaundice
pallor
delayed growth
dark urine
facial bone abnormalities
|
|
gptkbp:treatment
|
hematopoietic stem cell transplantation
iron chelation therapy
regular blood transfusions
|
|
gptkbp:bfsParent
|
gptkb:beta-thalassemia
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
beta-thalassemia major
|