Preferred Label : Hemoglobin Beta Heterozygous Insufficiency Plus Null Genotype;
NCIt synonyms : HBB Heterozygous Null with Insufficiency; B /B0; (B /B0); (B0/B ); B0/B ;
NCIt related terms : beta-globin genotype (B /B0);
NCIt definition : A genetic finding indicating that one copy of chromosome 16 has a hemoglobin beta
gene (HBB) with mutations that lead to hemoglobin subunit beta insufficiency (B )
and the other copy has HBB loss of function or gene deletion mutations (B0). This
genotype is associated with beta thalassemia intermedia.;
NCI Metathesaurus CUI : CL1773706;
Origin ID : C185529;
UMLS CUI : C5669972;
Semantic type(s)
- concept_is_in_subset
- related_to_genetic_biomarker
