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]

KAREN G. SCHEPS; AMANDA BINAGHI; VIVIANA VARELA

HEMOGLOBIN

TAYLOR & FRANCIS INC

Año: 2012 vol. 36 p. 504 - 507

0363-0269

We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an ?¿(+)-thalassemia (?¿(+)-thal) phenotype: Hb Riccarton HBA1:c.154G>A) [?¿51(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 ?¿-globin chain. Cloning of the HBA1 PCR (polymerase chain reaction) product and direct sequencing of the clones revealed that both mutations were in cis.