Molecular RHD polymorphism in D negative C/E positive phenotypes.

TRUCCO BOGGIONE C; LUJÁN BRAJOVICH M; MUFARREGE N; MATTALONI S; BIONDI C; GARCÍA BORRÁS S; COTORRUELO C

Rosario

Congreso; XVIII Congreso y XXXVI Reunión Anual de la Sociedad de Biología de Rosario; 2016

Sociedad de Biología de Rosario

RHD null alleles express a D negative phenotype on the red blood cells (RBCs) membrane andDELallelesavery low amount ofthe RhD proteinthat can only bedetected with adsorption elution techniques. The aim of this work was to analyze the molecular basis of 780 D negative C/E positive samples.The presence of RHD allele was investigated by a PCR multiplex strategy.Samples carrying RHD alleles (D-/RHD+) were studied by exon scanning, microarray and sequencing. We found 117 D-/RHD+ samples.Molecular studies detected the RHD null alleles: RHD- CE(3-9)-D (n=15), RHD-CE-Ds (n=58), RHD-CE(4-8)-D (n=1), RHD-CE(4-9)-D (n=1), RHDψ (n=1), RHD(581insG)(n=19), RHD(1001T>A) (n=1),rG (n=1)andRHD-CE(4-7)-D2 (n=1) and the DEL variants RHD(M295I) (n=4),RHD(46T>C) (n=12)andRHD(IVS3+1G>A)(n=2).DEL alleles were detected in 2,31% and RHD null alleles in a 12,69% of the D-/RHD+ samples. The characterization of DEL alleles will prevent transfusion of this units to patients in risk of alloimmunization.