The RHD(1227G>A) DEL‐associated allele is the most prevalent DEL allele in Australian D– blood donors with C+ and/or E+ phenotypes. Issue 11 (4th June 2014)

• Record Type: Journal Article
• Authors: Scott, Stacy A.; Nagl, Lisa; Tilley, Louise; Liew, Yew‐Wah; Condon, Jenny; Flower, Robert; Hyland, Catherine A.
• Is Part Of: Transfusion. Volume 54:Issue 11(2014)
• Page Start: 2931
• Page End: 2940
• Publication Date: 2014-06-04
• Subjects: Hematology -- Periodicals; Blood -- Transfusion -- Periodicals; Blood Group Antigens -- Periodicals; Blood Preservation -- Periodicals; Blood Transfusion -- Periodicals; 615
• DOI: 10.1111/trf.12701
• Languages: English
• ISSNs: 0041-1132

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="trf12701-sec-0001" sec-type="section"> <title>Background</title> <p>Red blood cells (RBCs) with D antigen levels only detected by anti‐D adsorption‐elution and an antiglobulin test express a DEL phenotype. For two DEL types, including <italic>RHD(1227G</italic>><italic>A)</italic>, immunization of D– recipients has been reported. This study's aim was to measure the prevalence of DEL‐associated <italic>RHD</italic> alleles in a cohort of Australian D– donors to develop a model to estimate alloimmunization risk.</p> </sec> <sec id="trf12701-sec-0002" sec-type="section"> <title>Study Design and Methods</title> <p>D–, C+ and/or E+ blood donors were screened for <italic>RHD</italic> exons using quantitative polymerase chain reaction. Donors with <italic>RHD</italic> signals were DEL phenotyped with MCAD6 anti‐D. <italic>RHD</italic> alleles were characterized via single‐nucleotide polymorphism array or sequencing. Extended DEL phenotyping was performed with an anti‐D panel.</p> </sec> <sec id="trf12701-sec-0003" sec-type="section"> <title>Results</title> <p>Among 2027 donors, 39 carried <italic>RHD</italic> alleles that have been previously reported to associate with either the DEL or the weak D phenotype. An additional five donors carried previously unreported <italic>RHD</italic> alleles and exhibited the DEL phenotype: <italic>RHD(IVS2‐2delA)</italic>, <italic>RHD(IVS1</italic>+<italic>5G</italic>><italic>C)</italic>, <italic>RHD(ex9:del/CE)</italic>, and <italic>RHD(ex8:del/CE)</italic> represented twice. In total, DEL/weak D–associated <italic>RHD</italic> alleles were detected in 44 of 2027 donors or 2.17% (95% confidence interval, 1.54%‐2.81%). The <italic>RHD(1227G</italic>><italic>A)</italic> DEL allele was the most frequent (n = 16). The risk of transfusing D– females not more than 40 years of age with an <italic>RHD(1227G</italic>><italic>A)</italic> DEL RBC unit (when managed as D–) is estimated to be one in 149, 109 transfusions (range, 100, 680‐294, 490).</p> </sec> <sec id="trf12701-sec-0004" sec-type="section"> <title>Conclusion</title> <p>DEL/weak D–associated <italic>RHD</italic> alleles were found in 2.17% of Australian D–, C+ and/or E+ blood donors. This differs from previous European reports in that the clinically significant <italic>RHD(1227G</italic>><italic>A)</italic> DEL allele is the most prevalent.</p> </sec> </abstract>