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

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.

journal_name

Blood

journal_title

Blood

authors

Noizat-Pirenne F,Lee K,Pennec PY,Simon P,Kazup P,Bachir D,Rouzaud AM,Roussel M,Juszczak G,Ménanteau C,Rouger P,Kotb R,Cartron JP,Ansart-Pirenne H

doi

10.1182/blood-2002-01-0229

subject

Has Abstract

pub_date

2002-12-01 00:00:00

pages

4223-31

issue

12

eissn

0006-4971

issn

1528-0020

pii

2002-01-0229

journal_volume

100

pub_type

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