Preferred Label : Hemoglobin Alpha Genotype Finding;
NCIt synonyms : Alpha Globin Genotype Finding; HBA Genotype Finding;
NCIt definition : A genetic finding indicating the genotype in a subject for the genes that encode hemoglobin
subunit alpha, HBA1 and HBA2. Since the two HBA genes encode the same protein and
are co-located on chromosome 16, the normal genotype is comprised of 2 maternal alpha
genes and 2 paternal alpha genes (aa/aa).;
NCIt note : Deviations from the normal hemoglobin alpha genotype are associated with various types
alpha-thalassemia or may affect the clinical hematological presentation for patients
with concurrent mutations associated with beta-thalassemia.;
NCI Metathesaurus CUI : CL1773694;
Origin ID : C185501;
UMLS CUI : C5669946;
Semantic type(s)
- related_to_genetic_biomarker
