Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
blood disorder |
| gptkbp:affects |
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 |
blood test
genetic testing |
| gptkbp:firstDescribed |
1925
|
| gptkbp:hasCarrierState |
gptkb:thalassemia_minor
|
| gptkbp:hasSevereForm |
gptkb:thalassemia_major
|
| https://www.w3.org/2000/01/rdf-schema#label |
Thalassemia
|
| 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:Red_Blood_Cell
|
| gptkbp:bfsLayer |
6
|