Hb Bart syndrome

GPTKB entity

Statements (24)
Predicate Object
gptkbp:instanceOf gptkb:disease
genetic disorder
hemoglobin
gptkbp:alsoKnownAs alpha thalassemia major
gptkbp:causedBy deletion of all four alpha-globin genes
gptkbp:characterizedBy heart failure
edema
hepatosplenomegaly
severe anemia
hydrops fetalis
gptkbp:diagnosedBy genetic testing
hemoglobin electrophoresis
https://www.w3.org/2000/01/rdf-schema#label Hb Bart syndrome
gptkbp:inheritance autosomal recessive
gptkbp:namedAfter Hb Bart (hemoglobin Bart)
gptkbp:prevalence more common in Southeast Asia
gptkbp:prognosis usually fatal before or shortly after birth
gptkbp:symptom jaundice
pallor
ascites
gptkbp:treatment intrauterine transfusion
gptkbp:bfsParent gptkb:HBA1_gene
gptkb:HBA2_gene
gptkbp:bfsLayer 6