hemoglobin H disease

GPTKB entity

Statements (28)
Predicate Object
gptkbp:instanceOf gptkb:disease
hemoglobin
gptkbp:causedBy alpha thalassemia
deletion of three alpha-globin genes
gptkbp:complication iron overload
growth retardation
gptkbp:diagnosedBy genetic testing
hemoglobin electrophoresis
https://www.w3.org/2000/01/rdf-schema#label hemoglobin H disease
gptkbp:ICD-10_code D56.0
gptkbp:inheritance autosomal recessive
gptkbp:MeSH_ID D006454
gptkbp:namedAfter gptkb:hemoglobin_H
gptkbp:OMIM 141800
gptkbp:prevalence higher in Mediterranean populations
higher in Southeast Asia
gptkbp:symptom gptkb:anemia
fatigue
jaundice
hepatosplenomegaly
pallor
gallstones
gptkbp:treatment gptkb:splenectomy
blood transfusion
folic acid supplementation
gptkbp:bfsParent gptkb:HBA1_gene
gptkb:HBA2_gene
gptkbp:bfsLayer 6