Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
blood disorder |
| gptkbp:affects |
hemoglobin
|
| gptkbp:causedBy |
mutations in HBB gene
|
| gptkbp:complication |
gptkb:liver_disease
heart failure endocrine disorders iron overload |
| gptkbp:diagnosedBy |
blood test
genetic testing hemoglobin electrophoresis |
| gptkbp:firstDescribed |
1925
|
| gptkbp:frequency |
common in Mediterranean populations
rare in North America |
| gptkbp:gene |
gptkb:HBB
|
| gptkbp:hasCarrierState |
beta thalassemia trait
|
| https://www.w3.org/2000/01/rdf-schema#label |
Beta thalassemia
|
| gptkbp:ICD-10_code |
D56.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
11
|
| gptkbp:MeSH_ID |
D013792
|
| gptkbp:mortalityRate |
increased without treatment
|
| gptkbp:OMIM |
603903
|
| gptkbp:prevalence |
gptkb:Middle_East
gptkb:South_Asia gptkb:Southeast_Asia gptkb:Mediterranean_region |
| gptkbp:prevention |
prenatal screening
genetic counseling |
| gptkbp:prognosis |
improved with regular transfusions and chelation
|
| gptkbp:relatedTo |
sickle cell disease
alpha thalassemia |
| gptkbp:riskFactor |
family history
consanguinity |
| gptkbp:subspecies |
beta thalassemia intermedia
beta thalassemia major beta thalassemia minor |
| gptkbp:symptom |
gptkb:anemia
fatigue jaundice enlarged spleen pale skin bone deformities delayed growth |
| gptkbp:treatment |
blood transfusion
bone marrow transplant iron chelation therapy |
| gptkbp:bfsParent |
gptkb:Editas_Medicine
|
| gptkbp:bfsLayer |
5
|