Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
hemoglobin
|
| gptkbp:aminoAcidChange |
glutamic acid to lysine at position 26
|
| gptkbp:associatedWith |
gptkb:hemoglobin_E/beta-thalassemia
gptkb:hemoglobin_E_disease |
| gptkbp:diagnosedBy |
DNA analysis
hemoglobin electrophoresis |
| gptkbp:discoveredBy |
Janis V. Holt
|
| gptkbp:discoveredIn |
1954
|
| gptkbp:fullName |
Hemoglobin E
|
| https://www.w3.org/2000/01/rdf-schema#label |
HbE
|
| gptkbp:ICD-10_code |
gptkb:D56.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
point mutation
|
| gptkbp:mutationLocation |
gptkb:beta-globin_gene
|
| gptkbp:prevalence |
high in Southeast Asia
common in Bangladesh common in Cambodia common in Laos common in Thailand common in Vietnam |
| gptkbp:significance |
usually mild anemia
can cause severe disease with beta-thalassemia |
| gptkbp:bfsParent |
gptkb:Hemoglobin_electrophoresis
|
| gptkbp:bfsLayer |
6
|