Preferred Label : Hemoglobin Beta Heterozygous Hemoglobin E Plus Insufficiency Genotype;
NCIt synonyms : BE/B ; (BE/B ); HBB Heterozygous Hb E with Insufficiency Genotype; HBB Heterozygous Hemoglobin E with Insufficiency Genotype; (B /BE); B /BE;
NCIt related terms : beta-globin genotype (BE/B );
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 an HBB 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been replaced by lysine (BE). 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 : CL1773704;
Origin ID : C185531;
UMLS CUI : C5669974;
Automatic exact mappings (from CISMeF team)
- Semantic type(s)
- related_to_genetic_biomarker
