NCIt definition : A laboratory finding indicating that the subject expresses abnormal hemoglobin containing
2 variant forms of the hemoglobin subunit beta protein (HBB). One HBB protein variant
has the amino acid substitution glutamic acid to valine at residue 6, which is associated
with the formation of hemoglobin S (HbS), while the other variant has a glutamic acid
to lysine substitution at residue 121, which is associated with the formation of hemoglobin
O-Arab (HbO(Arab)). Subjects expressing this compound heterozygous HBB genotype may
have severe sickling hemoglobinopathy with clinical manifestations similar to those
of homozygous sickle cell anemia.;
NCIt note : The amino acid residue numbering for the hemoglobin subunit beta protein variants
in this concept do not include the initiator methionine, which is post-translationally
removed during hemoglobin synthesis.;
Automatic exact mappings (from CISMeF team)