Preferred Label : Hemoglobin Alpha with Heterozygous Triplication;
NCIt synonyms : (aa/aaa); aa/aaa; HBA with Heterozygous Triplication Genotype;
NCIt related terms : alpha-globin genotype with triplication (aa / aaa);
NCIt definition : A genetic finding indicating that one copy of chromosome 16 has two functional copies
of the hemoglobin alpha (HBA) genes and the other copy of chromosome 16 has three
functional copies due to chromosomal rearrangement. This genotype is associated with
the alpha thalassemia silent carrier trait.;
NCI Metathesaurus CUI : CL1773691;
Origin ID : C185502;
UMLS CUI : C5669947;
Peut être observé dans la(les) pathologie(s)
- Semantic type(s)
- related_to_genetic_biomarker
