" /> Hemoglobin Alpha Genotype Finding - CISMeF





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;

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09/07/2025


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