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.
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).
Shaji
Ramachandran V
RV
Department of Haematology, Christian Medical College Hospital, Vellore, India. rvshaji@cmcvellore.ac.in
Srivastava
Alok
A
Krishnamoorthy
Rajagopal
R
Chandy
Mammen
M
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*
D005914:Globins