Preferred Label : Hemoglobin Beta Homozygous Insufficient Genotype;
NCIt synonyms : HBB Homozygous Insufficient Genotype; HBB Insufficient Genotype; B /B ; (B /B );
NCIt related terms : beta-globin genotype (B /B );
NCIt definition : A genetic finding indicating that both copies of chromosome 16 each have a copy of
the hemoglobin beta gene (HBB) with mutations that lead to hemoglobin subunit beta
insufficiency (B ). This genotype is associated with beta thalassemia intermedia.;
NCI Metathesaurus CUI : CL1773702;
Origin ID : C185525;
UMLS CUI : C5669969;
Semantic type(s)
- related_to_genetic_biomarker
