alpha-thalassemia (HbH disease)
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
hemoglobin |
| gptkbp:affects |
hemoglobin
|
| gptkbp:causedBy |
deletion of three alpha-globin genes
|
| gptkbp:complication |
gallstones
growth retardation hemolytic crisis |
| gptkbp:diagnosedBy |
genetic testing
hemoglobin electrophoresis |
| https://www.w3.org/2000/01/rdf-schema#label |
alpha-thalassemia (HbH disease)
|
| gptkbp:ICD-10_code |
D56.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:HBA1_gene
gptkb:HBA2_gene |
| gptkbp:namedAfter |
Hemoglobin H
|
| gptkbp:OMIM |
141800
|
| gptkbp:prevalence |
higher in Mediterranean populations
higher in Southeast Asia |
| gptkbp:symptom |
gptkb:anemia
fatigue jaundice splenomegaly pallor |
| gptkbp:treatment |
gptkb:splenectomy
blood transfusion iron chelation therapy |
| gptkbp:bfsParent |
gptkb:non-transfusion-dependent_thalassemia
|
| gptkbp:bfsLayer |
6
|