Preferred Label : Hemoglobin Alpha cis-Deletion with Constant Spring Genotype;
NCIt synonyms : HBA cis-Deletion with Constant Spring Genotype; (aCSa/--); (--/aCSa); --/aCSa; aCSa/--; HBA cis-Deletion with CS Genotype;
NCIt related terms : alpha-globin genotype ( - - / aCSa);
NCIt definition : A genetic finding indicating that one copy of chromosome 16 has one functional copy
of a hemoglobin alpha (HBA) gene and one copy that encodes an HBA stop loss mutation
called hemoglobin Constant Spring (CS), while the other copy of chromosome 16 has
no functional HBA genes. This genotype is associated with a severe form of hemoglobin
H disease.;
NCI Metathesaurus CUI : CL1773711;
Origin ID : C185520;
UMLS CUI : C5669964;
Semantic type(s)
- related_to_genetic_biomarker
