In:
Transfusion, Wiley, Vol. 49, No. 3 ( 2009-03), p. 495-504
Abstract:
BACKGROUND: The rare Hr B – phenotype is encoded by the (C)ce s haplotype when present at the homozygous state. This haplotype contains two altered genes: a hybrid RHD‐CE‐D s gene segregated with a ce s allele of RHCE (733C 〉 G and 1006G 〉 T substitutions in Exon 5 and Exon 7 respectively). The aim of this study was to further investigate the molecular background of the (C)ce s haplotype. STUDY DESIGN AND METHODS: Twelve individuals with depressed C and/or depressed e phenotype were selected from their genomic DNA analysis showing both 733C 〉 G and 1006G 〉 T substitutions. Phenotypic expression of low‐ and high‐prevalence Rh antigens was studied. Complete sequences of RHD and RHCE transcripts were analyzed when obtained. RESULTS: A new hybrid RHD‐CE‐D s gene (Exons 1 and 2; complete Exon 3; Exons 8, 9, and 10 from RHD; and Exons 4 through 7 from RHCE ) segregated with a ce s allele, which genomic organization was almost identical to that of the classical (C)ce s haplotype, is described. The two different (C)ce s haplotypes encoded two different patterns of Rh antigen expression. Although both encoded weak e, VS, and did not produce D, V, hr B , or Hr B antigens, the new haplotype encoded a much weaker C antigen and red blood cells lacked expression of Rh42, in contrast to the classic (C)ce s haplotype. CONCLUSION: The study showed the heterogeneity of the molecular background of the weak C, VS+, hr B –, Hr B – phenotype in the black population. The screening of blood donors in this population for hr B – or Hr B – phenotype should implement the molecular characterization of Rh genes.
Type of Medium:
Online Resource
ISSN:
0041-1132
,
1537-2995
DOI:
10.1111/trf.2009.49.issue-3
DOI:
10.1111/j.1537-2995.2008.02005.x
Language:
English
Publisher:
Wiley
Publication Date:
2009
detail.hit.zdb_id:
2018415-3
