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RHD variants in Polish blood donors routinely typed as D-.

ABSTRACT: BACKGROUND:Blood donors exhibiting a weak D or DEL phenotypical expression may be mistyped D- by standard serology hence permitting incompatible transfusion to D- recipients. Molecular methods may overcome these technical limits. Our aim was to estimate the frequency of RHD alleles among the apparently D- Polish donor population and to characterize its molecular background. STUDY DESIGN AND METHODS:Plasma pools collected from 31,200 consecutive Polish donors typed as D- were tested by real-time polymerase chain reaction (PCR) for the presence of RHD-specific markers located in Intron 4 and Exons 7 and 10. RHD+ individuals were characterized by PCR or cDNA sequencing and serology. RESULTS:Plasma cross-pool strategy revealed 63 RHD+ donors harboring RHD*01N.03 (n?=?17), RHD*15 (n?=?12), RHD*11 (n?=?7), RHD*DEL8 (n?=?3), RHD*01W.2 (n?=?3), RHD-CE(10) (n?=?3), RHD*01W.3, RHD*01W.9, RHD*01N.05, RHD*01N.07, RHD*01N.23, and RHD(IVS1-29G>C) and two novel alleles, RHD*(767C>G) (n?=?3) and RHD*(1029C>A). Among 47 cases available for serology, 27 were shown to express the D antigen CONCLUSION:1) Plasma cross-pool strategy is a reliable and cost-effective tool for RHD screening. 2) Only 0.2% of D- Polish donors carry some fragments of the RHD gene; all of them were C or E+. 3) Almost 60% of the detected RHD alleles may be potentially immunogenic when transfused to a D- recipient.

SUBMITTER: Orzinska A

PROVIDER: S-EPMC5497842 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature

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RHD variants in Polish blood donors routinely typed as D-.

Orzińska Agnieszka A Guz Katarzyna K Polin Helene H Pelc-Kłopotowska Monika M Bednarz Justyna J Gieleżyńska Agata A Sliwa Beata B Kowalewska Małgorzata M Pawłowska Elżbieta E Włodarczyk Bogusława B Malaga Alicja Żmudzin Małgorzata M Krzemienowska Magdalena M Srivastava Kshitij K Michalewska Bogumiła B Gabriel Christian C Flegel Willy A WA Brojer Ewa E

Transfusion 20130501 11 Suppl 2

<h4>Background</h4>Blood donors exhibiting a weak D or DEL phenotypical expression may be mistyped D- by standard serology hence permitting incompatible transfusion to D- recipients. Molecular methods may overcome these technical limits. Our aim was to estimate the frequency of RHD alleles among the apparently D- Polish donor population and to characterize its molecular background.<h4>Study design and methods</h4>Plasma pools collected from 31,200 consecutive Polish donors typed as D- were teste ...[more]

PMID: 23634715

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Project description:BackgroundHybrid genes are responsible for the formation of Rh variants and are common in patients with sickle cell disease (SCD). However, it is not usually possible to detect them by conventional molecular protocols. In the present study, hybrid genes were investigated using the Quantitative Multiplex Polymerase chain reaction of Short Fluorescent Fragments (QMPSF), a molecular protocol that quantifies the copy number of RHD and RHCE exons. In addition, we explored additional relevant information obtained with QMPSF, such as recognition of variant RHCE and RHD zygosity.Materials and methodsThree groups of subjects were selected for the study: patients with SCD, self-declared African descent donors (SDA), and D-negative donors. RHD and RHCE hybrids genes were investigated by the QMPSF method. Real-time multiplex polymerase chain reaction (PCR) assay was used to confirm the copy number of the RHD in two samples. Cloning was performed to investigate the allele. Relative RhD antigen density was investigated by flow cytometry, and RhCE phenotyping was performed with both tube and gel methods.ResultsIn the 507 samples analysed, hybrid allele frequencies were found in 20.08% of patients with SCD, in 18.22% of individuals in the SDA group, and 3.67% of D-negative donors. The SCD and SDA groups had a higher frequency of hybrid alleles, most commonly involving exon 8, with which we found an association with c.733C>G, a common polymorphism observed in individuals of African descent. Of note, two patients with SCD were shown to carry three gene copies, as confirmed by quantitative PCR; no increase in D expression was observed in these patients. In addition, the QMPSF guided the investigation of 144 RHCE variants and RHD zygosity, and two novel alleles were identified.DiscussionThe QMPSF was shown to identify hybrid alleles involved in altered Rh phenotypes in Brazilian donors and patients with SCD. The association of the hybrid RHCE-D(8)-CE allele with c.733C>G suggests this hybrid allele may be used as a marker to detect the most frequent variants found in patients with SCD.

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RHD variants in Polish blood donors routinely typed as D-.

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RHD variants in Polish blood donors routinely typed as D-.

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