title: beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.
abstract: Sickle-cell anemia results from an A leads to T transversion in the second nucleotide of codon 6 of the beta-globin gene. We now report an uncommon beta-thalassemia gene that contains a deletion of this nucleotide. Thus, one mutation (GAG leads to GTG) produces sickle-cell anemia, while the other (GAG leads to GG) eliminates beta-globin production. These data establish that different alterations affecting one specific nucleotide can produce either an abnormal hemoglobin or beta-thalassemia. Moreover, the nucleotide sequence comprising codons 6-8 of the beta-globin gene appears to be particularly susceptible to mutations affecting nucleotide number.
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D003062:Codon; D004247:DNA / Q000032:analysis; D004262:DNA Restriction Enzymes; D005809:Genes, Regulator; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D013789:Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes