BRIEF REPORT
How do we identify RHD variants using a practical
molecular approach?
Carine Prisco Arnoni,
1
Flavia Roche Moreira Latini,
1
Janaína Guilhem Muniz,
1
Diana Gazito,
1
Rosangela de Medeiros Person,
1
Tatiane Aparecida de Paula Vendrame,
1
José Augusto Barreto,
1
and
Lilian Castilho
2
Serologic resolution of Rh discrepancies due to partial
D or weak D phenotypes is a frequent problem encoun-
tered during routine typing that can be solved by RHD
genotyping because it provides better characterization
of these variants. The objective of the current study
was to develop algorithms for identification of D variants
in multiethnic populations based on a logic sequence of
molecular tests using a large number of atypical RhD
specimens. Thus, a total of 360 blood samples with
atypical D antigen expression were analyzed. A previ-
ously published multiplex polymerase chain reaction
(PCR) procedure was performed and depending on
multiplex PCR analysis, the associated RHCE allele,
and D variant frequency in our population, an algorithm
was developed composed of six flow charts using spe-
cific PCR–restriction fragment length polymorphism
and/or specific exon sequencing. This strategy allowed
the identification of 22 different variants with few assays
and a much reduced cost. This study describes a
simple and practical algorithm that we use to determine
RHD genotypes in samples with unknown RHD. This
strategy is relatively easy to implement and the algo-
rithm can be adapted to populations with various ethnic
backgrounds after an initial assessment of the type and
frequency of D variants. Essentially, we demonstrate
that sequencing of all RHD exons is not necessary for
the identification of the majority of known D variants.
T
he majority of weak D phenotypes result
from single-nucleotide polymorphisms (SNPs)
in RHD encoding amino acid changes within
either the membrane-spanning domains or the
cytoplasmic loops of the protein. These changes can inter-
fere with the integration of the RhD protein in the mem-
brane leading to a reduced number of D antigen sites on
red blood cells (RBCs).
1
Partial D, in contrast to weak D, is
characterized by amino acid changes outside of the mem-
brane that can alter or create new epitopes.
2
Therefore,
individuals with partial D can make anti-D when stimu-
lated by transfusion or pregnancy. In fact, many partial D
are typed as D+ by direct agglutination and these individu-
als will be identified only after anti-D formation.
3
RHD
genotyping is useful for precise characterization of partial
D and weak D types in donors and recipients and is
a clinically important approach to prevent alloim-
munization of recipients with partial D, usually typed as
D+, when exposed to D+ RBCs or to some of the weak D
RBCs typed as D– by serologic methods. However, RHD
genotyping is not easy, because it is influenced by the size
of the gene, by the presence of rearrangements with
RHCE,
3
and by the high number of SNPs that are recog-
nized in variants found among different ethnic groups.
4
A multitude of different primers and probes is avail-
able for molecular genotyping of RHD making difficult the
ABBREVIATION: SNP(s) = single-nucleotide polymorphism(s).
From the
1
Colsan–Associação Beneficente de Coleta de Sangue,
São Paulo, SP, Brazil; and
2
INCTs–Hemocentro-Unicamp,
Campinas, SP, Brazil.
Address reprint requests to: Carine Prisco Arnoni,
Colsan–Associação Beneficente de Coleta de Sangue, Avenida
Jandira 1260, Indianópolis–CEP 04080-006, Brazil; e-mail:
carine.arnoni@colsan.org.br.
Received for publication July 26, 2013; revision received
November 28, 2013, and accepted November 29, 2013.
doi: 10.1111/trf.12557
© 2014 AABB
TRANSFUSION **;**:**-**.
Volume **, ** ** TRANSFUSION 1