Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb Riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser].
We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an α(+)-thalassemia (α(+)-thal) phenotype: Hb Riccarton HBA1:c.154G>A) [α51(CE9)Gly→Ser] and a novel mutation, HBA1:c.301-2A>T that affects the splicing acceptor site of the second intron and leads to a non functional α-globin chain. Cloning of the HBA1 PCR (polymerase chain reaction) product and direct sequencing of the clones revealed that both mutations were in cis.
Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Ciudad de Buenos Aires, Argentina.
Karen G
KG
Scheps
Amanda
A
Binaghi
Viviana
V
Varela
D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D001483:Base Sequence; D005260:Female; D023061:Gene Order; D005838:Genotype; D006442:Glycated Hemoglobin / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D022821:RNA Splice Sites; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal; D022821:RNA Splice Sites; C502560:hemoglobin Riccarton