RhD variants in Caucasians: consequences for checking clinically relevant alleles

Transfusion. 2004 Sep;44(9):1282-6. doi: 10.1111/j.1537-2995.2004.04063.x.

Abstract

Background: Weak D type carriers cannot be immunized against D except when antigen density is below 400 antigens per RBC, whereas partial D carriers can produce anti-D.

Study design and methods: A total of 168 blood samples from Caucasian individuals were studied because of weak D expression and/or anti-D production. Serologic analysis and molecular analysis were performed.

Results: In total, 70 partial D and 62 weak D were identified. Among weak D samples, 30 weak D Type 1 and 21 weak D Type 2 alleles were found. Five new alleles were characterized carrying 399G > T, 680T > C, 833G > A, 851C > T, and 1015G > A, respectively. According to previous studies, antigen density was up to 500 for weak D Type 1 and 2, except when there was a dCe haplotype in trans. Antigen density was below 400 antigens per red blood cell for the new variants and most other weak D variants.

Conclusion: These results provide molecular characterization of five new D variants. They also suggest that it would be advantageous to develop in routine laboratories weak D Type 1 and 2 genotyping for serologically depressed D antigen. It will help to avoid wasting of D- red blood cell units because carriers may safely receive D+ units.

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Blood Grouping and Crossmatching
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Isoantibodies / blood
  • Models, Molecular
  • Mutation, Missense
  • Point Mutation
  • Rh Isoimmunization / prevention & control
  • Rh-Hr Blood-Group System / genetics*
  • Rho(D) Immune Globulin
  • White People / genetics*

Substances

  • Isoantibodies
  • RHO(D) antibody
  • Rh-Hr Blood-Group System
  • Rho(D) Immune Globulin
  • Rho(D) antigen