Preferred Label : Hemoglobin Alpha Three Copies Deleted Genotype;
NCIt synonyms : (a-/--); (--/-a); HBA Three Copies Deleted Genotype; (--/a-); -a/--; --/a-; a-/--; --/-a; (-a;--);
NCIt related terms : alpha-globin genotype ( - - / a - );
NCIt definition : A genetic finding indicating that one copy of chromosome 16 has only one functional
copy of a hemoglobin alpha (HBA) gene and the other copy of has no functional HBA
genes. This genotype is associated with hemoglobin H disease.;
NCI Metathesaurus CUI : CL1779354;
Origin ID : C185517;
UMLS CUI : C5669961;
Peut être observé dans la(les) pathologie(s)
- Semantic type(s)
- related_to_genetic_biomarker
