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Reagents, Molecular Assay, Gene Anomaly, Mutation, HBB

Definition : Molecular assay reagents intended to identify mutations in the hemoglobin, beta (HBB) gene, located at chromosome 11p15.5, which encodes for beta chain of hemoglobin. Mutations at this locus have been identified in patients with a group of symptomatic disorders characterized by the presence of hemoglobin S (Hb S), especially sickle cell anemia (Hb SS); they are also associated with sickle-hemoglobin C disease (Hb SC) and with two types of sickle beta-thalassemia.

Entry Terms : "Drepanocytosis Gene Mutation Detection Reagents" , "Heinz Body Anemia Gene Mutation Detection Reagents" , "Cerebrovascular Disease Gene Mutation Detection Reagents" , "Sickle Cell Anemia Detection Reagents" , "Sickle Cell Diseases Gene Mutation Detection Reagents" , "Mediterranean Anemia Gene Mutation Detection Reagents" , "Cooley's Anemia Gene Mutation Detection Reagents" , "Beta-Thalassemia Gene Mutation Detection Reagents" , "Hemoglobin S Gene Diagnostic Reagents" , "Sickle Cell Anemia Gene Mutation Detection Reagents" , "Thalassemia Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Monogenic, Sickle Cell Anemia" , "HBB Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Monogenic, Thalassemia"

UMDC code : 24461

   

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