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Blood, Vol. 94 No. 12 (December 15), 1999:
pp. 4337-4342
DAR, a New RhD Variant Involving Exons 4, 5, and 7, Often in
Linkage With ceAR, a New Rhce Variant Frequently Found in
African Blacks
M.B. Hemker,
P.C. Ligthart,
L. Berger,
D.J. van Rhenen,
C.E. van
der Schoot, and
P.A. Maaskant-van Wijk
From the Laboratory for Transfusion Science, Bloodbank Rotterdam,
Rotterdam, The Netherlands; the Department of Immunohematology, CLB and
Laboratory for Experimental and Clinical Immunology, Academic Medical
Center, University of Amsterdam, Amsterdam, The Netherlands; the
Department of Hematology, University Hospital Rotterdam, Rotterdam, The
Netherlands; and the Department of Hematology, Academic Medical Center,
Amsterdam, The Netherlands.
The highly polymorphic Rh system is encoded by 2 homologous genes
RHD and RHCE. Gene rearrangements, deletions, or point
mutations may cause partial D and CE antigens. In this study, a new
RHD variant, DAR, and a new RHCE variant,
ceAR, are described in 4 Dutch African Blacks. Serologically,
DAR showed weaker reactions with a monoclonal antibody and polyclonal
antiserum against D. The DAR phenotype was characterized by complete
loss of at least 9 of 37 Rh D epitopes. Erythrocytes expressing ceAR
were all typed as VS , V+. DNA analysis
showed a partial D allele with only 3 mutations: C602G (exon 4), T667G
(exon 5), and T1025C (exon 7). The ceAR allele carried G48C (exon 1), a
hybrid exon 5 (A712G, C733G, A787G, and T800A), and A916G (exon 6). To
study the frequency of these variants, 326 South-African Blacks was
screened genomically. Of the 326 donors, 16 (4.9%) carried the DAR
allele, 20 (6.1%) the ceAR allele, and 14 (4.3%) both mutated
alleles. Five of these donors (1.5%) had the DAR phenotype, indicating
that they carried the DAR allele homozygously or next to a D-negative
allele. Immunogenicity of the D antigen for individuals with the DAR
phenotype was proven, because 1 of the 4 Dutch individuals produced
allo-antibodies against D after multiple transfusions with D-positive
blood. In a multiethnic society, the prevalence of this D phenotype
will increase and is therefore relevant in transfusion practice and in
prevention of hemolytic disease of the newborn.
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