Molecular basis of D-negative phenotype (literature review and case reports)

Abstract

The molecular basis of the D-negative phenotype formation in humans is presented in this article. Causes of true and false D-negative phenotype appearance are described. The basis of true D-negative phenotype are changes in the genome, that lead to complete lack of RhD antigen expression on the red blood cells surface, or defective expression of RhD antigen, not detectable by serological methods. The reason for the false D-negative phenotype is the insufficient sensitivity of routine serological methods. Cases of true and false D-negative phenotype identified during the examination of the Russia residents are described. We were able to identify one case of true (RHDψ) and five cases of false D-negative phenotype (RHD weak type 2 – two cases, RHD weak type 15 – one case and RHD weak type 20 – two cases) by molecular method.

Keywords

• gene
• genotype
• phenotype
• rhesus
• rhesus complex
• alloimmunization
• true negative d-phenotype
• false negative d-phenotype
• alleles
• mutations
• erythrocyte antigens