Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hemoglobin |
| gptkbp:affects |
hemoglobin
|
| gptkbp:alsoKnownAs |
HbE disease
E-beta thalassemia (when co-inherited with beta thalassemia mutation) |
| gptkbp:causedBy |
mutation in HBB gene
|
| gptkbp:complication |
gptkb:anemia
jaundice gallstones |
| gptkbp:diagnosedBy |
hemoglobin electrophoresis
|
| gptkbp:firstDescribed |
1954
|
| https://www.w3.org/2000/01/rdf-schema#label |
hemoglobin E disease
|
| gptkbp:ICD-10_code |
D55.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
613673
|
| gptkbp:prevalence |
gptkb:Bangladesh
gptkb:Cambodia gptkb:Laos gptkb:Southeast_Asia gptkb:Thailand gptkb:Vietnam gptkb:Northeast_India |
| gptkbp:prognosis |
generally good
|
| gptkbp:riskFactor |
family history
ethnic background (Southeast Asian descent) |
| gptkbp:symptom |
microcytosis
mild anemia mild splenomegaly |
| gptkbp:treatment |
supportive care
folic acid supplementation blood transfusion (rarely needed) |
| gptkbp:bfsParent |
gptkb:hemoglobin_E
|
| gptkbp:bfsLayer |
6
|