hemoglobin S

GPTKB entity

Statements (25)
Predicate Object
gptkbp:instanceOf hemoglobin
gptkbp:affects red blood cells
gptkbp:alsoKnownAs gptkb:HbS
gptkbp:aminoAcidChange glutamic acid to valine at position 6 of beta-globin chain
gptkbp:associatedWith gptkb:anemia
painful vaso-occlusive crises
gptkbp:cause sickle cell disease
sickling of red blood cells
gptkbp:diagnosedBy hemoglobin electrophoresis
gptkbp:discoveredBy gptkb:James_V._Neel
gptkbp:discoveredIn 1949
gptkbp:encodedBy gptkb:HBB_gene
gptkbp:form fibers under low oxygen conditions
gptkbp:foundIn humans
https://www.w3.org/2000/01/rdf-schema#label hemoglobin S
gptkbp:inheritance autosomal recessive
gptkbp:molecularWeight approximately 64,500 Da
gptkbp:mutationAssociatedWith gptkb:hemoglobin_A
gptkbp:prevalence people of African descent
gptkbp:resistantTo malaria
gptkbp:treatment gptkb:hydroxyurea
blood transfusions
bone marrow transplant
gptkbp:bfsParent gptkb:hemoglobin
gptkbp:bfsLayer 5