RESUMO
This update of the Landsteiner-Wiener (LW) blood group system (Grandstaff Moulds MK. The LW blood group system: a review. Immunohematology 2011;27:136-42. Storry JR. Review: the LW blood group system. Immunohematology 1992;8:87-93) reports new information on the distribution of genetic variants in ICAM4 and reviews the complex serologic identification of the high-prevalence LWEM antigen. The role of ICAM4 in sickle cell disease and malaria susceptibility is discussed.
Assuntos
Anemia Falciforme , Antígenos de Grupos Sanguíneos , Humanos , Anemia Falciforme/genética , Antígenos de Grupos Sanguíneos/genéticaRESUMO
BACKGROUND AND OBJECTIVES: Variant RHD genes associated with the weak D phenotype can result in complete or partial D-epitope expression on the red cell. This study examines the genetic classification in Australian blood donors with a weak D phenotype and correlates RHD variants associated with the weak D phenotype against D-epitope profile. MATERIALS AND METHODS: Following automated and manual serology, blood samples from donors reported as 'weak D' (n = 100) were RHD genotyped by a commercial SNP-typing platform and Sanger sequencing. Two commercial anti-D antibody kits were used for extended serological testing for D-epitope profiles. RESULTS: Three samples had wild-type RHD exonic sequences, and 97 samples had RHD variants. RHD*weak D type 1, RHD*weak D type 2 or RHD*weak D type 3 was detected in 75 donors. The remaining 22 samples exhibited 17 different RHD variants. One donor exhibited a novel RHD*c.939+3A>C lacking one D-epitope. Weak D types 1·1, 5, 15, 17 and 90 showed a partial D-epitope profile. CONCLUSION: The array of RHD variants detected in this study indicated diversity in the Australian donor population that needs to be accommodated for in future genotyping strategies.
