title: Coexistence of a novel beta-globin gene deletion (codons 81-87) with the codon 30 (G-->C) mutation in an Indian patient with beta0-thalassemia.
abstract: We identified and characterized a novel beta0-thalassemia mutation due to the deletion of 22 bases from codons 81 through 87, found in a compound heterozygous state with codon 30 (G-->C) in a patient originating from West Bengal State, India. The deletion causes a shift in the reading frame of the coding sequence and creates a stop codon at position 81. Direct and inverted repeat sequences present in the deleted region might be involved in the origin of this mutation. The patient had moderate anemia and did not require blood transfusions (thalassemia intermedia).
authors.affiliation: Department of Haematology, Christian Medical College Hospital, Vellore, India. rvshaji@cmcvellore.ac.in
authors.forename: Ramachandran V
authors.initials: RV
authors.lastname: Shaji
authors.forename: Alok
authors.initials: A
authors.lastname: Srivastava
authors.forename: Rajagopal
authors.initials: R
authors.lastname: Krishnamoorthy
authors.forename: Mammen
authors.initials: M
authors.lastname: Chandy
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D012091:Repetitive Sequences, Nucleic Acid; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins