Preferred Label : Hemoglobin Beta Heterozygous Null Genotype;
NCIt synonyms : HBB Heterozygous Null Genotype; B/B0; (B0/B); B0/B; (B/B0);
NCIt related terms : beta-globin genotype (B/B0);
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 loss of function
or gene deletion mutations (B0). This genotype is associated with beta thalassemia
minor.;
NCI Metathesaurus CUI : CL1773933;
Origin ID : C185582;
UMLS CUI : C5669985;
Semantic type(s)
related_to_genetic_biomarker