Preferred Label : Hemoglobin Beta Heterozygous Hemoglobin E Plus Null Genotype;
NCIt synonyms : (B0/BE); (BE/B0); BE/B0; HBB Heterozygous Hemoglobin E with Null Genotype; HBB Heterozygous Hb E with Null Genotype; B0/BE;
NCIt related terms : beta-globin genotype (BE/B0);
NCIt definition : A genetic finding indicating that one copy of chromosome 16 has a hemoglobin beta
gene (HBB) with a mutation that produces a hemoglobin subunit beta variant, the hemoglobin
beta E variant, where the glutamic acid residue at position 27 has been replaced by
lysine (BE) and the other copy has HBB loss of function or gene deletion mutations
(B0). This genotype is associated with beta thalassemia intermedia.;
NCIt note : The hemoglobin subunit beta variant is often reported in the literature as Glu26Lys
but that numbering does not include the initiator methionine, which is post-translationally
removed during hemoglobin synthesis.;
NCI Metathesaurus CUI : CL1773719;
Origin ID : C185532;
UMLS CUI : C5669975;
Semantic type(s)
- concept_is_in_subset
- related_to_genetic_biomarker
