Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety

Blood. 2002 Dec 1;100(12):4223-31. doi: 10.1182/blood-2002-01-0229. Epub 2002 Aug 1.

Abstract

The molecular backgrounds of variants encountered in Afro-Caribbean black individuals and associated with the production of clinically significant antibodies against high-incidence antigens (anti-RH18, anti-RH34) and against Rhe epitopes were determined. We showed that RH:-18 phenotypes are produced by 3 distinct RHCE alleles: ceEK carrying 48G>C (exon 1), 712A>G, 787A>G, 800T>A (exon 5); ceBI carrying 48G>C (exon 1), 712A>G (exon 5), 818C>T (exon 6), 1132C>G (exon 8); and the already known ceAR allele carrying 48G>C (exon 1), 712A>G, 733C>G, 787A>G, 800T>A (exon 5), and 916A>G (exon 6). The RH:-34 phenotype is produced by the (C)ce(s) haplotype described previously and composed of a hybrid D-CE(3-8)-D gene with 4 extra mutations next to a ce(s) allele (733C>G; exon 5) with an extra mutation in exon 7 (1006G>T). Partial Rhe with risk of immunization against lacking epitopes can be produced by the new ce(s) allele carrying an extra mutation in exon 3 (340C>T) and by the ceMO allele described previously. A population of sickle cell disease patients was screened to estimate the incidence of these rare alleles, with the conclusion that a procedure is required to detect the associated phenotypes in black donors to ensure transfusion safety for patients. We also described a new variant [ce(s)(748)] and variants carrying different altered alleles in nonimmunized patients and for whom the risk of immunization is discussed.

MeSH terms

  • Alleles
  • Anemia, Sickle Cell / blood
  • Anemia, Sickle Cell / genetics
  • Black People / genetics*
  • Blood Grouping and Crossmatching / methods
  • Blood Transfusion
  • Caribbean Region / ethnology
  • Erythrocytes / immunology
  • Female
  • Genetic Variation
  • Glycoproteins / genetics*
  • Glycoproteins / immunology*
  • Humans
  • Isoantibodies / blood
  • Isoantigens / blood
  • Isoantigens / genetics
  • Male
  • Pedigree
  • Pregnancy
  • Rh Isoimmunization
  • Rh-Hr Blood-Group System / genetics
  • Rh-Hr Blood-Group System / immunology
  • Sequence Analysis, DNA
  • Serologic Tests

Substances

  • Glycoproteins
  • Isoantibodies
  • Isoantigens
  • RHCE protein, human
  • Rh-Hr Blood-Group System