Preferred Label : Hemoglobin Beta Genotype Finding;
NCIt synonyms : Beta Globin Genotype Finding; HBB Genotype Finding;
NCIt definition : A genetic finding indicating the genotype composition in a subject for the HBB gene
that is located on chromosome 16 and encodes hemoglobin subunit beta. There is one
maternal copy and one paternal copy of the HBB gene (B/B).;
NCIt note : Deviations from the normal hemoglobin beta genotype are associated with beta-thalassemia.;
NCI Metathesaurus CUI : CL1773710;
Origin ID : C185523;
UMLS CUI : C5669967;
Semantic type(s)
- related_to_genetic_biomarker
