Preferred Label : Hemoglobin Beta Heterozygous Insufficiency Genotype;
NCIt synonyms : B/B ; B /B; (B /B); HBB Heterozygous Insufficiency Genotype; (B/B );
NCIt related terms : beta-globin genotype (B/B );
NCIt definition : A genetic finding indicating that one copy of chromosome 16 has a functional copy
(B) of the hemoglobin beta gene (HBB) and the other copy has HBB mutations that lead
to hemoglobin subunit beta insufficiency (B ). This genotype is associated with beta
thalassemia minor.;
NCI Metathesaurus CUI : CL1773934;
Origin ID : C185581;
UMLS CUI : C5669984;
Semantic type(s)
related_to_genetic_biomarker