| Autor: |
Noizat-Pirenne F; Centre National de Référence des Groupes Sanguins (CNRGS) and Institut National de la Transfusion Sanguine (INTS), France. pirenne@ints.fr, 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 |
| Jazyk: |
angličtina |
| Zdroj: |
Blood [Blood] 2002 Dec 01; Vol. 100 (12), pp. 4223-31. Date of Electronic Publication: 2002 Aug 01. |
| DOI: |
10.1182/blood-2002-01-0229 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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