Whole-exome sequencing for <i>RH</i> genotyping and alloimmunization risk in children with sickle cell anemia.

ABSTRACT: RH genes are highly polymorphic and encode the most complex of the 35 human blood group systems. This genetic diversity contributes to Rh alloimmunization in patients with sickle cell anemia (SCA) and is not avoided by serologic Rh-matched red cell transfusions. Standard serologic testing does not distinguish variant Rh antigens. Single nucleotide polymorphism (SNP)-based DNA arrays detect many RHD and RHCE variants, but the number of alleles tested is limited. We explored a next-generation sequencing (NGS) approach using whole-exome sequencing (WES) in 27 Rh alloimmunized and 27 matched non-alloimmunized patients with SCA who received chronic red cell transfusions and were enrolled in a multicenter study. We demonstrate that WES provides a comprehensive RH geno

SUBMITTER: Chou ST 

PROVIDER: S-EPMC5727856 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature