Identification of the mutation affecting the KEL gene responsible for a K0 phenotype

MATTALONI, STELLA MARIS; ARNONI, CARINE; TRUCCO BOGGIONE, CAROLINA; LUJÁN BRAJOVICH, MELINA ELIANA; GARCIA BORRAS, SILVIA; BIONDI, CLAUDIA; CASTILHO, LILIAN; COTORRUELO, CARLOS

Londres

Congreso; 25th Regional Congress of the ISBT; 2015

ISBT

the Kell system is one of the most clinically relevant blood group. It comprises at least 34 antigens being KEL1/KEL2 (K/k), KEL3/KEL4 (Kpa/Kpb) and KEL6/KEL7 (Jsa/Jsb) antithetical and the most important epitopes. Most Kell antibodies are involved in the pathogenesis of hemolytic disease of the fetus and newborn and severe hemolytic transfusion reactions. Kell antigens are encoded by the KEL gene which comprises 19 exons. Single nucleotide polymorphisms (SNPs) are the most common cause of the different Kell phenotypes. Molecular defects may lead to the rare K0 (Knull) phenotype characterized by the absence of Kell antigens expression. Limited clinical data have been published regarding the significance of anti-Ku, seen in K0 individuals