Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hemoglobin autosomal recessive disease |
| 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 |
| https://www.w3.org/2000/01/rdf-schema#label |
beta-thalassemia major
|
| 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
|